• Efficacy and safety of maintenance olaparib and bevacizumab in ovarian cancer patients aged ≥65 years from the PAOLA-1/ENGOT-ov25 trial.
    • Sabatier R, Rousseau F, Joly F, Cropet C, Montégut C, Frindte J, Cinier S, Guerra Alía EM, Polterauer S, Yoshida H, Vergote I, Colombo N, Hietanen S, Largillier R, Canzler U, Gratet A, Marmé F, Favier L, Pujade-Lauraine E, Ray-Coquard I.
    • Eur J Cancer. 2022 Dec 10 [2023 Mar];181:42-52. doi: 10.1016/j.ejca.2022.11.029. Epub ahead of print.

    Related:

    •• Identifier: NCT02477644: Platine, Avastin and OLAparib in 1st Line (PAOLA-1). (ClinicalTrials.gov . Accessed 2023 Jan 10.)

    • Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female BRCA1 and BRCA2 Carriers: A Single Institution Experience in the Czech Republic.
    • Zimovjanova M, Bielcikova Z, Miskovicova M, Vocka M, Zimovjanova A, Marian Rybar M, Novotny J, Petruzelka L.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041072.
    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.
    • The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
    • Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
    • Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
    • Review
    • Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
    • Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.
    • Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
    • Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.
    • The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
    • Metcalfe KA, Gronwald J, Tung NM, McCuaig JM, Eisen A, Elser C, Foulkes WD, Neuhausen SL, Senter L, Moller P, Bordeleau L, Fruscio R, Velsher L, Zakalik D, Olopade OI, Eng C, Pal T, Cullinane CA, Couch FJ, Kotsopoulos J, Sun P, Lubinski J, Narod SA.
    • Cancer. 2022 Dec 26. doi: 10.1002/cncr.34615. Epub ahead of print.
    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.
    • Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
    • Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.
    • The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
    • Garsed DW, Pandey A, Fereday S, Kennedy CJ, Takahashi K, Alsop K, Hamilton PT, Hendley J, Chiew YE, Traficante N, Provan P, Ariyaratne D, Au-Yeung G, Bateman NW, Bowes L, Brand A, Christie EL, Cunningham JM, Friedlander M, Grout B, Harnett P, Hung J, McCauley B, McNally O, Piskorz AM, Saner FAM, Vierkant RA, Wang C, Winham SJ, Pharoah PDP, Brenton JD, Conrads TP, Maxwell GL, Ramus SJ, Pearce CL, Pike MC, Nelson BH, Goode EL, DeFazio A, Bowtell DDL.
    • Nat Genet. 2022 Dec 1:1-9. doi: 10.1038/s41588-022-01230-9. Epub ahead of print.

    Related:

    •• Research news: Study Unearths Features Found in Long-Term Survivors of Advanced Ovarian Cancer. (GenomeWeb)

    • Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant.
    • Bang YJ, Kwon WK, Kim JW, Lee JE, Jung BY, Kim M, Kim J, An J, Jung SP, Kim HK, Kim Z, Youn HJ, Ryu JM, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Ann Surg Treat Res. 2022 Dec;103(6):323-330. doi: 10.4174/astr.2022.103.6.323. Epub 2022 Dec 8.
    • Germline pathogenic variants associated with ovarian cancer: A historical overview.
    • Johansen EL, Thusgaard CF, Thomassen M, Boonen SE, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8 [eCollection 2022 Dec];44:101105. doi: 10.1016/j.gore.2022.101105.
    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.
    • Details Emerge About Why Cancers Caused by BRCA Mutations Recur.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 16.

    Related:

    •• Original research:

    Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

    • Comparing Characteristics of Pelvic High-grade Serous Carcinomas with and without Breast Cancer Gene Variants on MR Imaging.
    • Saida T, Shikama A, Mori K, Ishiguro T, Minaguchi T, Satoh T, Nakajima T.
    • Magn Reson Med Sci. 2022 Nov 12. doi: 10.2463/mrms.mp.2022-0061. Epub ahead of print.
    • BRCA2 gene mutation in cancer.
    • Xie C, Luo J, He Y, Jiang L, Zhong L, Shi Y.
    • Medicine (Baltimore). 2022 Nov 11;101(45):e31705. doi: 10.1097/MD.0000000000031705.
    • Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
    • Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL.
    • Nat Commun. 2022 Nov 7;13(1):6728. doi: 10.1038/s41467-022-34523-y.

    Related:

    •• Research news: Details Emerge About Why Cancers Caused by BRCA Mutations Recur. (Inside Precision Medicine)

    • ASO Visual Abstract: Impact of BRCA Mutation Status on Tumor Dissemination Pattern, Surgical Outcome, and Patient Survival in Primary and Recurrent High-Grade Serous Ovarian Cancer (HGSOC). A Multicenter, Retrospective Study of the Ovarian Cancer Therapy-Innovative Models Prolong Survival (OCTIPS) Consortium.
    • Glajzer J, Castillo-Tong DC, Richter R, Vergote I, Kulbe H, Vanderstichele A, Ruscito I, Trillsch F, Mustea A, Kreuzinger C, Gourley C, Gabra H, Taube ET, Dorigo O, Horst D, Keunecke C, Baum J, Angelotti T, Sehouli J, Braicu EI.
    • Ann Surg Oncol. 2022 Nov 5. doi: 10.1245/s10434-022-12681-z. Epub ahead of print.
    • Review

    Related:

    •• Original research:

    Impact of BRCA Mutation Status on Tumor Dissemination Pattern, Surgical Outcome and Patient Survival in Primary and Recurrent High-Grade Serous Ovarian Cancer: A Multicenter Retrospective Study by the Ovarian Cancer Therapy-Innovative Models Prolong Survival (OCTIPS) Consortium.

    • The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
    • Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ.
    • Int J Cancer. 2022 Nov 1;151(9):1626-1639. doi: 10.1002/ijc.34165. Epub 2022 Jul 6.
    • The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2.
    • Philpott S, Raikou M, Manchanda R, Lockley M, Singh N, Scott M, Evans DG, Adlard J, Ahmed M, Edmondson R, Woodward ER, Lamnisos A, Balega J, Brady AF, Sharma A, Izatt L, Kulkarni A, Tripathi V, Solomons JS, Hayes K, Hanson H, Snape K, Side L, Skates S, McGuire A, Rosenthal AN.
    • J Med Genet. 2022 Nov 1:jmedgenet-2022-108741. doi: 10.1136/jmg-2022-108741. Epub ahead of print.
    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report
    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.
    • MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
    • Manning-Geist B, Gordhandas S, Liu YL, Zhou Q, Iasonos A, Da Cruz Paula A, Mandelker D, Roche KL, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
    • Clin Cancer Res. 2022 Oct 14;28(20):4456-4465. doi: 10.1158/1078-0432.CCR-21-4183.

    Related:

    Commentary:

    Taking the Road Less Traveled: Following Molecular Trail Markers.

    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
    • Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
    • Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
    • Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
    • Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.
    • Bernard J, Mehros W, Gregoire J, Douville P, Renaud MC, Sebastianelli A, Langlais EL, Plante M.
    • J Obstet Gynaecol Can. 2022 Oct;44(10):1047-1053. doi: 10.1016/j.jogc.2022.06.005. Epub 2022 Jun 30.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
    • Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PP, Easton DF, Antoniou AC.
    • J Med Genet. 2022 Sep 26:jmedgenet-2022-108471. doi: 10.1136/jmedgenet-2022-108471. Epub ahead of print.
    • Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
    • Prakash R, Rawal Y, Sullivan MR, Grundy MK, Bret H, Mihalevic MJ, Rein HL, Baird JM, Darrah K, Zhang F, Wang R, Traina TA, Radke MR, Kaufmann SH, Swisher EM, Guérois R, Modesti M, Sung P, Jasin M, Bernstein KA.
    • Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
    • Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
    • Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
    • Características clínicas de pacientes con Cáncer de Mama y / o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina. [Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina.]
    • Martin CA, Suárez Villasmil L, Sembaj A, Gomez Balangione F, Zunino S, Montes CDC, Borello A, Del Castillo A, Zeballos M, Rossi NT.
    • Rev Fac Cien Med Univ Nac Cordoba. 2022 Sep 16;79(3):228-234. Spanish. doi: 10.31053/1853.0605.v79.n3.34533.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Impact of BRCA Mutation Status on Tumor Dissemination Pattern, Surgical Outcome and Patient Survival in Primary and Recurrent High-Grade Serous Ovarian Cancer: A Multicenter Retrospective Study by the Ovarian Cancer Therapy-Innovative Models Prolong Survival (OCTIPS) Consortium.
    • Glajzer J, Castillo-Tong DC, Richter R, Vergote I, Kulbe H, Vanderstichele A, Ruscito I, Trillsch F, Mustea A, Kreuzinger C, Gourley C, Gabra H, Taube ET, Dorigo O, Horst D, Keunecke C, Baum J, Angelotti T, Sehouli J, Braicu EI.
    • Ann Surg Oncol. 2022 Sep 9. doi: 10.1245/s10434-022-12459-3. Epub ahead of print.

    Related:

    •• Review:

    ASO Visual Abstract: Impact of BRCA Mutation Status on Tumor Dissemination Pattern, Surgical Outcome, and Patient Survival in Primary and Recurrent High-Grade Serous Ovarian Cancer (HGSOC). A Multicenter, Retrospective Study of the Ovarian Cancer Therapy-Innovative Models Prolong Survival (OCTIPS) Consortium.

    • Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
    • Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, Bao C, Bai Y, Zhao X, Yuan P.
    • Front Oncol. 2022 Sep 6;12:898916. doi: 10.3389/fonc.2022.898916.
    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
    • Speight B, Colvin E, Epurescu ED, Drummond J, Verhoef S, Pereira M, Evans DG, Tischkowitz M.
    • Hered Cancer Clin Pract. 2022 Sep 6;20(1):32. doi: 10.1186/s13053-022-00237-x.
    • Impact of germline mutations in cancer-predisposing genes on long-term survival in patients with epithelial ovarian cancer.
    • Kotsopoulos J, Zamani N, Rosen B, McLaughlin JR, Risch HA, Kim SJ, Sun P, Akbari MR, Narod SA.
    • Br J Cancer. 2022 Sep;127(5):879-885. doi: 10.1038/s41416-022-01840-4. Epub 2022 Jun 16.
    • Peritoneal dissemination of high-grade serous ovarian cancer: pivotal roles of chromosomal instability and epigenetic dynamics.
    • Konishi I, Abiko K, Hayashi T, Yamanoi K, Murakami R, Yamaguchi K, Hamanishi J, Baba T, Matsumura N, Mandai M; Kyoto Study Group for Ovarian Cancer Research.
    • J Gynecol Oncol. 2022 Sep;33(5):e83. doi: 10.3802/jgo.2022.33.e83.
    • Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta-analysis.
    • Wang Y, Li N, Ren Y, Zhao J.
    • J Obstet Gynaecol Res. 2022 Sep;48(9):2270-2284. doi: 10.1111/jog.15326. Epub 2022 Jun 13.
    • Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
    • Sokolenko AP, Sultanova LV, Stepanov IA, Romanko AA, Venina AR, Sokolova TN, Musayeva HS, Tovgereeva MY, Magomedova MK, Akhmatkhanov KU, Vagapova EI, Suleymanov EA, Vasilyeva EV, Bakaeva EK, Bizin IV, Aleksakhina SN, Imyanitov EN.
    • Cancer Med. 2022 Aug 23. doi: 10.1002/cam4.5159. Epub ahead of print.
    • BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
    • El Ansari FZ, Jouali F, Fekkak R, Bakkach J, Ghailani Nourouti N, Barakat A, Bennani Mechita M, Fekkak J.
    • Hered Cancer Clin Pract. 2022 Aug 19;20(1):29. doi: 10.1186/s13053-022-00236-y.
    • BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
    • Boussios S, Rassy E, Moschetta M, Ghose A, Adeleke S, Sanchez E, Sheriff M, Chargari C, Pavlidis N.
    • Cancers (Basel). 2022 Aug 11;14(16):3888. doi: 10.3390/cancers14163888.
    • Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
    • Zhang Y, Wu H, Yu Z, Li L, Zhang J, Liang X, Huang Q.
    • BMC Cancer. 2022 Aug 2;22(1):842. doi: 10.1186/s12885-022-09943-0.
    • The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
    • BenAyed-Guerfali D, Kifagi C, BenKridis-Rejeb W, Ammous-Boukhris N, Ayedi W, Khanfir A, Daoud J, Mokdad-Gargouri R.
    • Genes (Basel). 2022 Jul 22;13(8):1296. doi: 10.3390/genes13081296.
    • Modification of the Association Between Frequent Aspirin Use and Ovarian Cancer Risk: A Meta-Analysis Using Individual-Level Data From Two Ovarian Cancer Consortia.
    • Hurwitz LM, Townsend MK, Jordan SJ, Patel AV, Teras LR, Lacey JV Jr, Doherty JA, Harris HR, Goodman MT, Shvetsov YB, Modugno F, Moysich KB, Robien K, Prizment A, Schildkraut JM, Berchuck A, Fortner RT, Chan AT, Wentzensen N, Hartge P, Sandler DP, O'Brien KM, Anton-Culver H, Ziogas A, Menon U, Ramus SJ, Pearce CL, Wu AH, White E, Peters U, Webb PM, Tworoger SS, Trabert B.
    • J Clin Oncol. 2022 Jul 22:JCO2101900. doi: 10.1200/JCO.21.01900. Epub ahead of print.
    • Meta-Analysis
    • Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants.
    • Yao L, Sun J, Hu L, Chen J, Zhang J, Xu Y, Xie Y.
    • J Hum Genet. 2022 Jul 21. doi: 10.1038/s10038-022-01065-6. Epub ahead of print.
    • Risk reducing surgery with peritoneal staging in BRCA1-2 mutation carriers. A prospective study.
    • Marchetti C, Arcieri M, Vertechy L, Ergasti R, Russo G, Zannoni GF, Minucci A, Ercoli A, Scambia G, Fagotti A.
    • Eur J Surg Oncol. 2022 Jul 19:S0748-7983(22)00549-2. doi: 10.1016/j.ejso.2022.07.007. Epub ahead of print.
    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Related:

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • Subfertility, use of fertility treatments and BRCA mutation status and the risk of ovarian cancer.
    • Lerner-Geva L, Chetrit A, Farhi A, Lubin F, Sadezki S; National Israel Ovarian Cancer Study Group.
    • Arch Gynecol Obstet. 2022 Jul;306(1):209-217. doi: 10.1007/s00404-021-06355-6. Epub 2022 Jan 18.
    • BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • Br J Cancer. 2022 Jul;127(1):163-167. doi: 10.1038/s41416-022-01773-y. Epub 2022 Mar 8.
    • Review
    • Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy.
    • Sekine M, Enomoto T, Arai M, Den H, Nomura H, Ikeuchi T, Nakamura S; Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer.
    • J Gynecol Oncol. 2022 Jul;33(4):e46. doi: 10.3802/jgo.2022.33.e46. Epub 2022 Mar 31.
    • TP53 variants in p53 signatures and the clonality of STICs in RRSO samples.
    • Akahane T, Masuda K, Hirasawa A, Kobayashi Y, Ueki A, Kawaida M, Misu K, Nakamura K, Nagai S, Chiyoda T, Yamagami W, Hayashi S, Kataoka F, Banno K, Sugano K, Okita H, Kosaki K, Nishihara H, Aoki D.
    • J Gynecol Oncol. 2022 Jul;33(4):e50. doi: 10.3802/jgo.2022.33.e50. Epub 2022 Mar 21.
    • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
    • Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
    • J Med Genet. 2022 Jul;59(7):632-643. doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.
    • Genomic catastrophe, the peritoneal cavity and ovarian cancer prevention.
    • Yoon JY, Chapel DB, Goebel E, Qian X, Mito JK, Horowitz NS, Miron A, Soong TR, Xian W, Crum CP.
    • J Pathol. 2022 Jul;257(3):255-261. doi: 10.1002/path.5891. Epub 2022 Apr 18.
    • Review
    • Founder BRCA1 mutations in Nepalese population.
    • Mehta A, Diwan H, Gupta G, Nathany S, Agnihotri S, Dhanda S.
    • J Pathol Transl Med. 2022 Jul;56(4):212-216. doi: 10.4132/jptm.2022.05.02. Epub 2022 Jun 15.
    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 Jul;10(7):e1940. doi: 10.1002/mgg3.1940. Epub 2022 May 24.
    • An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study.
    • Peremiquel-Trillas P, Paytubi S, Pelegrina B, Frias-Gomez J, Carmona Á, Martínez JM, de Francisco J, Benavente Y, Barahona M, Briansó F, Canet-Hermida J, Caño V, Vidal A, Zanca A, Baixeras N, Rodríguez A, Fernández-Gonzalez S, Dueñas N, Càrdenas L, Aytés Á, Bianchi I, Pavón MÀ, Reventós J, Capellà G, Gómez D, Diaz M, Ponce J, Brunet J, Matias-Guiu X, Bosch FX, de Sanjosé S, Alemany L, Pineda M, Marin F, Costas L.
    • J Pers Med. 2022 Jun 29;12(7):1074. doi: 10.3390/jpm12071074.
    • Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population.
    • Bounous VE, Robba E, Perotto S, Pasini B, Tomasi Cont N, Ricci MT, Ditto A, Vitellaro M, Raspagliesi F, Biglia N.
    • J Clin Med. 2022 Jun 27;11(13):3689. doi: 10.3390/jcm11133689.
    • Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer.
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell C, Salih Z, Woodward ER, Lalloo F, Shaw J, Desai S, Crosbie EJ, Edmondson RJ, Schlecht H, Wallace AJ, Jayson GC, Evans DGR.
    • J Clin Pathol. 2022 Jun 23:jclinpath-2022-208369. doi: 10.1136/jcp-2022-208369. Epub ahead of print.
    • Prevalence of Pathogenic Germline BRCA1/2 Variants and Their Association with Clinical Characteristics in Patients with Epithelial Ovarian Cancer in a Rural Area of Japan.
    • Abe A, Imoto I, Tange S, Nishimura M, Iwasa T.
    • Genes (Basel). 2022 Jun 18;13(6):1085. doi: 10.3390/genes13061085.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta-analysis.
    • Wang Y, Li N, Ren Y, Zhao J.
    • J Obstet Gynaecol Res. 2022 Jun 13. doi: 10.1111/jog.15326. Epub ahead of print.
    • Meta-Analysis
    • Current and Emerging Methods for Ovarian Cancer Screening and Diagnostics: A Comprehensive Review.
    • Liberto JM, Chen SY, Shih IM, Wang TH, Wang TL, Pisanic TR 2nd.
    • Cancers (Basel). 2022 Jun 11;14(12):2885. doi: 10.3390/cancers14122885.
    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Related:

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

    • Ovarian tumors and genetic predisposition.
    • Štellmachová J, Vrtel P, Vrtel R, Janíková M, Kolaríková K, Procházka M, Vodicka R.
    • Ceska Gynekol. 2022 Summer;87(3):211-216. English. doi: 10.48095/cccg2022211.
    • Brain metastases in patients with ovarian cancer.
    • Limon D, Shachar E, Wolf I, Adar L, Peleg Hasson S, Ferro L, Safra T.
    • Acta Oncol. 2022 Jun;61(6):757-763. doi: 10.1080/0284186X.2022.2066985. Epub 2022 Apr 29.
    • A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
    • Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
    • Curr Med Sci. 2022 Jun;42(3):666-672. doi: 10.1007/s11596-022-2527-2. Epub 2022 Mar 15.
    • Case report
    • Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
    • Yanus GA, Savonevich EL, Sokolenko AP, Romanko AA, Ni VI, Bakaeva EK, Gorustovich OA, Bizin IV, Imyanitov EN.
    • Fam Cancer. 2022 May 21. doi: 10.1007/s10689-022-00296-y. Epub ahead of print.
    • Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers.
    • Zhu Q, Wang J, Yu H, Hu Q, Bateman NW, Long M, Rosario S, Schultz E, Dalgard CL, Wilkerson MD, Sukumar G, Huang RY, Kaur J, Lele SB, Zsiros E, Villella J, Lugade A, Moysich K, Conrads TP, Maxwell GL, Odunsi K.
    • Cancers (Basel). 2022 May 10;14(10):2350. doi: 10.3390/cancers14102350.
    • Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study.
    • Barnard ME, Meeks H, Jarboe EA, Albro J, Camp NJ, Doherty JA.
    • J Med Genet. 2022 May 9:jmedgenet-2021-108402. doi: 10.1136/jmedgenet-2021-108402. Epub ahead of print.
    • Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman Study™.
    • Tone A, Boghosian T, Ross A, Baugh E, Altman AD, Dawson L, Reid F, Crawford C.
    • Curr Oncol. 2022 May 5;29(5):3318-3340. doi: 10.3390/curroncol29050271.
    • Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan.
    • Sekine M, Enomoto T, Arai M, Yokoyama S, Nomura H, Nishino K, Ikeuchi T, Kuriyama Y, Nakamura S; Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer.
    • J Hum Genet. 2022 May;67(5):267-272. doi: 10.1038/s10038-021-01002-z. Epub 2022 Jan 4.
    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
    • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN.
    • Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251.
    • Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
    • Pallonen TA, Lempiäinen SMM, Joutsiniemi TK, Aaltonen RI, Pohjola PE, Kankuri-Tammilehto MK.
    • Sci Rep. 2022 Apr 25;12(1):6704. doi: 10.1038/s41598-022-10519-y.
    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • Fallopian Tube Originating Ovarian Cancer in a 53-Year-Old Postmenopausal Female With Hereditary Breast Cancer (BRCA) Genes: A Case Study.
    • Garrick I, Ahasan H, Jiang M, Musheyev Y, Ftiha F, Levada M.
    • Cureus. 2022 Apr 7;14(4):e23929. doi: 10.7759/cureus.23929.
    • Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.
    • Jasiewicz A, Rudnicka H, Kluzniak W, Gronwald W, Kluz T, Cybulski C, Jakubowska A, Lubinski J, Gronwald J.
    • Hered Cancer Clin Pract. 2022 Apr 5;20(1):12. doi: 10.1186/s13053-022-00219-z.
    • Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.
    • Vidra R, Ciuleanu TE, Nemes A, Pascu O, Heroiu AM, Antone N, Vidrean AI, Oprean CM, Pop LA, Berindan-Neagoe I, Eniu R, Eniu A.
    • Int J Environ Res Public Health. 2022 Apr 4;19(7):4314. doi: 10.3390/ijerph19074314.
    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Related:

    Commentary:

    Patchwork Cancer Predisposition.

    • Incidence and prognostic significance of inguinal lymph node metastasis in women with newly diagnosed epithelial ovarian cancer.
    • Chalif J, Yao M, Gruner M, Kuznicki M, Vargas R, Rose PG, Michener C, DeBernardo R, Chambers L.
    • Gynecol Oncol. 2022 Apr;165(1):90-96. doi: 10.1016/j.ygyno.2022.01.026. Epub 2022 Mar 7.
    • Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.
    • Li A, Hao S, Luo J, Zi Y, Lan Z, Zhou T, Zhi Q, Zhan J, Sun G, Shi Y, Luo D.
    • J Oncol. 2022 Mar 26;2022:9390539. doi: 10.1155/2022/9390539.
    • Focal Serous Tubal Intra-Epithelial Carcinoma Lesions Are Associated With Global Changes in the Fallopian Tube Epithelia and Stroma.
    • Wu J, Raz Y, Recouvreux MS, Diniz MA, Lester J, Karlan BY, Walts AE, Gertych A, Orsulic S.
    • Front Oncol. 2022 Mar 21;12:853755. doi: 10.3389/fonc.2022.853755.
    • Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
    • Ogrodniczak A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Bialkowska K, Prajzendanc K, Baszuk P, Lubinski J, Jakubowska A.
    • Hered Cancer Clin Pract. 2022 Mar 21;20(1):11. doi: 10.1186/s13053-022-00218-0.
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
    • Godin P, Duhoux FP, Mazzeo F, Rojas M, Bollue E, François A, Galant C, Coulie J, Coyette M, Lentini A, Deswisen Y, Perlepe V, Fellah L, Leconte I, Berlière M.
    • Case Rep Oncol. 2022 Mar 14;15(1):238-244. doi: 10.1159/000521840.
    • The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.
    • Luo Y, Wu H, Huang Q, Rao H, Yu Z, Zhong Z.
    • Int J Gen Med. 2022 Mar 10;15:2773-2786. doi: 10.2147/IJGM.S355755.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.
    • Finch A, Metcalfe K, Akbari M, Friedman E, Tung N, Rosen B, Eisen A, Karlan B, Foulkes W, Neuhausen SL, Senter L, McKinnon W, Elser C, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Clin Genet. 2022 Mar;101(3):317-323. doi: 10.1111/cge.14098. Epub 2022 Jan 26.
    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
    • Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
    • Eur J Hum Genet. 2022 Mar;30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14.
    • Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk.
    • Saul H, Gursul D, Cassidy S, Evans G.
    • BMJ. 2022 Feb 15;376:o258. doi: 10.1136/bmj.o258.
    • Research news

    Related:

    Original research:

    Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.

    • Chris Evert's ovarian cancer diagnosis highlights the importance of genetic counseling and testing.
    • [No author given]
    • FORCE. XRAY. 2022 Feb 8.

    Related:

    Press: Chris Evert opens up about her stage 1C ovarian cancer diagnosis. (ESPN)

    • Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
    • Yao Q, Liu Y, Zhang L, Dong L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Feb 3;12:709645. doi: 10.3389/fonc.2022.709645.
    • [SCREENING WOMEN AT HIGH RISK FOR BREAST CANCER - BRCA AND BEYOND].
    • Hermann N, Westergard S, McCready DR.
    • Harefuah. 2022 Feb;161(2):95-100. Hebrew.
    • [Article in Hebrew]
    • Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
    • Marcinkute R, Woodward ER, Gandhi A, Howell S, Crosbie EJ, Wissely J, Harvey J, Highton L, Murphy J, Holland C, Edmondson R, Clayton R, Barr L, Harkness EF, Howell A, Lalloo F, Evans DG.
    • J Med Genet. 2022 Feb;59(2):133-140. doi: 10.1136/jmedgenet-2020-107356. Epub 2021 Feb 10.

    Related:

    Research news:

    Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk.

    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Le TN, Tran VK, Nguyen TT, Vo NS, Hoang TH, Vo HL, Nguyen TT, Nguyen PD, Nguyen VT, Ta TV, Tran HT.
    • Genes (Basel). 2022 Jan 29;13(2):268. doi: 10.3390/genes13020268.
    • Long-term tumour dormancy in a BRCA1 heterozygote.
    • Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD.
    • J Med Genet. 2022 Jan 17:jmedgenet-2021-108269. doi: 10.1136/jmedgenet-2021-108269. Epub ahead of print.
    • Case report
    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
    • Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
    • BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.
    • Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.
    • Agha N, Alshamsan B, Al-Farsi S, Ateya HA, Almugbel FA, Alotaibi HA, Omar A, Mohamed AS, Alharthy H, Elhassan T, Salem H, Alhusaini H.
    • BMC Cancer. 2022 Jan 3;22(1):18. doi: 10.1186/s12885-021-09123-6.
    • Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
    • Gun-Bilgic D, Aydin-Gumus A, Bilgic A, Cam FS.
    • Clin Lab. 2022 Jan 1;68(1). doi: 10.7754/Clin.Lab.2021.210425.
    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
    • Sahin I, Saat H.
    • Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108.
    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Metastatic ovarian carcinoma in breast cancer patients during risk-reducing salpingo-oophorectomy: Report of two cases.
    • Shakya P, Bajracharya A, Shrestha S, Kharel S, Maharjan R, Shrestha AK.
    • Ann Med Surg (Lond). 2021 Dec 6;73:103158. doi: 10.1016/j.amsu.2021.103158. eCollection 2022 Jan.
    • Metastatic ovarian carcinoma in breast cancer patients during risk-reducing salpingo-oophorectomy: Report of two cases.
    • Shakya P, Bajracharya A, Shrestha S, Kharel S, Maharjan R, Shrestha AK.
    • Ann Med Surg (Lond). 2021 Dec 6;73:103158. doi: 10.1016/j.amsu.2021.103158. eCollection 2022 Jan.
    • Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study.
    • Flaum N, van Veen EM, Smith O, Amico S, Newman WG, Crosbie EJ, Edmondson R, Smith MJ, Evans DG.
    • Clin Genet. 2022 Jan;101(1):48-54. doi: 10.1111/cge.14068. Epub 2021 Oct 7.
    • CT imaging phenotypes linked to CA125 and HE4 biomarkers are highly predictive in discriminating between hereditary and sporadic ovarian cancer patients.
    • Manganaro L, Celli V, Viggiani V, Berardelli E, Granato T, Tartaglione S, Farina A, Catalano C, Angeloni A, Anastasi E.
    • Tumour Biol. 2022;44(1):171-185. doi: 10.3233/TUB-211557.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
    • Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
    • BRCA1 and Metastasis: Outcome of Defective DNA Repair.
    • Krishnan R, Patel PS, Hakem R.
    • Cancers (Basel). 2021 Dec 27;14(1):108. doi: 10.3390/cancers14010108.
    • Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.
    • Azribi F, Abdou E, Dawoud E, Ashour M, Kamal A, Al Sayed M, Burney I.
    • BMC Cancer. 2021 Dec 20;21(1):1350. doi: 10.1186/s12885-021-09094-8.
    • Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.
    • Gansmo LB, Sofiyeva N, Bjørnslett M, Romundstad P, Hveem K, Vatten L, Dørum A, Lønning PE, Knappskog S.
    • Sci Rep. 2021 Dec 6;11(1):23463. doi: 10.1038/s41598-021-02820-z.
    • Biomarkers of Central Nervous System Involvement from Epithelial Ovarian Cancer.
    • Scotto G, Borella F, Turinetto M, Tuninetti V, Valsecchi AA, Giannone G, Cosma S, Benedetto C, Valabrega G.
    • Cells. 2021 Dec 3;10(12):3408. doi: 10.3390/cells10123408.
    • Ovarian Cancer-Specific BRCA-like Copy-Number Aberration Classifiers Detect Mutations Associated with Homologous Recombination Deficiency in the AGO-TR1 Trial.
    • Schouten PC, Richters L, Vis DJ, Kommoss S, van Dijk E, Ernst C, Kluin RJC, Marmé F, Lips EH, Schmidt S, Scheerman E, Prieske K, van Deurzen CHM, Burges A, Ewing-Graham PC, Dietrich D, Jager A, de Gregorio N, Hauke J, du Bois A, Nederlof PM, Wessels LF, Hahnen E, Harter P, Linn SC, Schmutzler RK.
    • Clin Cancer Res. 2021 Dec 1;27(23):6559-6569. doi: 10.1158/1078-0432.CCR-21-1673. Epub 2021 Sep 30.
    • Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.
    • Paik ES, Heo EJ, Choi CH, Kim JH, Kim JW, Kim YM, Park SY, Lee JW, Kim JW, Kim BG.
    • Cancer Sci. 2021 Dec;112(12):5055-5067. doi: 10.1111/cas.15166. Epub 2021 Oct 25.
    • Clinical outcome in patients with primary epithelial ovarian cancer and germline BRCA1/2-mutation - real life data.
    • Ataseven B, Tripon D, Schwameis R, Harter P, Rhiem K, Schneider S, Heikaus S, Baert T, Francesco AP, Heitz F, Traut A, Groeben HT, Schmutzler R, du Bois A.
    • Gynecol Oncol. 2021 Dec;163(3):569-577. doi: 10.1016/j.ygyno.2021.09.004. Epub 2021 Sep 24.
    • Uptake Rate of Risk-Reducing Salpingo-Oophorectomy and Surgical Outcomes of Female Germline BRCA1/2 Mutation Carriers: A Retrospective Cohort Study.
    • Lim H, Kim SI, Hyun S, Lee GB, Seol A, Lee M.
    • Yonsei Med J. 2021 Dec;62(12):1090-1097. doi: 10.3349/ymj.2021.62.12.1090.
    • Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
    • Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium; CIMBA Consortium.
    • Genet Med. 2021 Nov 17 [2021 Nov 30?]:S1098-3600(21)01130-8. doi: 10.1016/j.gim.2021.08.016. Epub ahead of print.
    • Prediction of BRCA gene mutation status in epithelial ovarian cancer by radiomics models based on 2D and 3D CT images
    • Mingzhu L, Yaqiong G, Mengru L, Wei W.
    • BMC Med Imaging. 2021 Nov 26;21(1):180. doi: 10.1186/s12880-021-00711-3.
    • [Comparison of hereditary breast and ovarian cancer syndrome and sporadic ovarian cancer in ovarian cancer BRCA mutations].
    • Duan RR, Sun LX, Zhao HW.
    • Zhonghua Fu Chan Ke Za Zhi. 2021 Nov 25;56(11):788-795. Chinese. doi: 10.3760/cma.j.cn112141-20210722-00395.
    • [Article in Chinese]
    • The challenging screen detection of ovarian cancer in BRCA mutation carriers adhering to a 6-month follow-up program: results from a 6-years surveillance.
    • Grandi G, Fiocchi F, Cortesi L, Toss A, Boselli F, Sammarini M, Sighinolfi G, Facchinetti F.
    • Menopause. 2021 Nov 1;29(1):63-72. doi: 10.1097/GME.0000000000001883.
    • Efficacy of risk-reducing salpingo-oophorectomy in BRCA1-2 variants and clinical outcomes of follow-up in patients with isolated serous tubal intraepithelial carcinoma (STIC).
    • Saccardi C, Zovato S, Spagnol G, Bonaldo G, Marchetti M, Alessandrini L, Tognazzo S, Guerriero A, Vitagliano A, Laganà AS, Noventa M.
    • Gynecol Oncol. 2021 Nov;163(2):364-370. doi: 10.1016/j.ygyno.2021.08.021. Epub 2021 Aug 28.
    • Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.
    • Li L, Chen F, Lin A, Wang D, Shi Y, Chen G.
    • Comput Math Methods Med. 2021 Oct 21;2021:4854282. doi: 10.1155/2021/4854282.
    • Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene.
    • Kowsarnia S, Javadi N.
    • Cureus. 2021 Oct 11;13(10):e18691. doi: 10.7759/cureus.18691.
    • Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
    • Setton J, Selenica P, Mukherjee S, Shah R, Pecorari I, McMillan B, Pei IX, Kemel Y, Ceyhan-Birsoy O, Sheehan M, Tkachuk K, Brown DN, Zhang L, Cadoo K, Powell S, Weigelt B, Robson M, Riaz N, Offit K, Reis-Filho JS, Mandelker D.
    • NPJ Breast Cancer. 2021 Oct 11;7(1):135. doi: 10.1038/s41523-021-00339-0.
    • Ovarian cancer surveillance in the clinical follow up of women with known BRCA1 or BRCA2 pathogenic variants in a large health care system.
    • Nañez A, Stram DA, Garcia C, Powell CB.
    • Gynecol Oncol. 2021 Oct;163(1):134-141. doi: 10.1016/j.ygyno.2021.07.034. Epub 2021 Jul 27.
    • Assessment of mismatch repair deficiency in ovarian cancer.
    • Crosbie EJ, Ryan NAJ, McVey RJ, Lalloo F, Bowers N, Green K, Woodward ER, Clancy T, Bolton J, Wallace AJ, McMahon RF, Evans DG.
    • J Med Genet. 2021 Oct;58(10):687-691. doi: 10.1136/jmedgenet-2020-107270. Epub 2020 Sep 11.
    • Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
    • Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A.
    • Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714.
    • Risks of subsequent primary cancers among breast cancer survivors according to hormone receptor status.
    • Sung H, Freedman RA, Siegel RL, Hyun N, DeSantis CE, Ruddy KJ, Jemal A.
    • Cancer. 2021 Sep 15;127(18):3310-3324. doi: 10.1002/cncr.33602. Epub 2021 May 18.
    • Ovarian Serous Carcinoma With a Novel HSP90AB1 Mutation in a Patient With Synchronous Primary Fallopian Tube Serous Carcinoma.
    • Lai J, Tong C, Chien JR.
    • Anticancer Res. 2021 Sep;41(9):4417-4422. doi: 10.21873/anticanres.15248.
    • Case report
    • Long-term response to olaparib in BRCA1-related ovarian cancer with brain metastases.
    • Gallego A, Garrido D, Yébenes L, Mendiola M, Castelo B, Redondo A.
    • Int J Gynecol Cancer. 2021 Sep;31(9):1292-1296. doi: 10.1136/ijgc-2020-002225.
    • Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
    • Somasegar S, Weiss AS, Norquist BM, Khasnavis N, Radke M, Manhardt E, Pennil C, Pennington KP, Eckert MA, Chryplewicz A, Lengyel E, Swisher EM.
    • Gynecol Oncol. 2021 Aug 24:S0090-8258(21)01315-9. doi: 10.1016/j.ygyno.2021.08.017. Epub ahead of print.
    • Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers.
    • Kim SJ, Lubinski J, Huzarski T, Møller P, Armel S, Karlan BY, Senter L, Eisen A, Foulkes WD, Singer CF, Tung N, Bordeleau L, Neuhausen SL, Olopade OI, Eng C, Weitzel JN, Fruscio R, Narod SA, Kotsopoulos J.
    • Cancer Epidemiol Biomarkers Prev. 2021 Aug 23:cebp.0296.2021. doi: 10.1158/1055-9965.EPI-21-0296. Epub ahead of print.
    • Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
    • Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, Messaoud O, Bouaziz H, Berrazega Y, Rachdi H, Jaidane O, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Ben Hassouna J, Haddaoui A, Rahal K, Benna F, Mrad R, Ben Ahmed S, Boussen H, Boubaker S, Abdelhak S.
    • Front Oncol. 2021 Aug 20;11:674965. doi: 10.3389/fonc.2021.674965.
    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
    • Association of Genetic Testing Results with Mortality Among Women with Breast Cancer or Ovarian Cancer.
    • Kurian AW, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Gomez SL, Morrow M, Berek JS, Hofer TP, Katz SJ, Ward KC.
    • J Natl Cancer Inst. 2021 Aug 9:djab151. doi: 10.1093/jnci/djab151. Epub ahead of print.
    • Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
    • Senda N, Kawaguchi-Sakita N, Kawashima M, Inagaki-Kawata Y, Yoshida K, Takada M, Kataoka M, Torii M, Nishimura T, Kawaguchi K, Suzuki E, Kataoka Y, Matsumoto Y, Yoshibayashi H, Yamagami K, Tsuyuki S, Takahara S, Yamauchi A, Shinkura N, Kato H, Moriguchi Y, Okamura R, Kan N, Suwa H, Sakata S, Mashima S, Yotsumoto F, Tachibana T, Tanaka M, Togashi K, Haga H, Yamada T, Kosugi S, Inamoto T, Sugimoto M, Ogawa S, Toi M.
    • Cancer Sci. 2021 Aug;112(8):3338-3348. doi: 10.1111/cas.14986. Epub 2021 Jun 28.
    • Assistance by Routine CT Features Combined With 3D Texture Analysis in the Diagnosis of BRCA Gene Mutation Status in Advanced Epithelial Ovarian Cancer.
    • Li MR, Liu MZ, Ge YQ, Zhou Y, Wei W.
    • Front Oncol. 2021 Jul 26;11:696780. doi: 10.3389/fonc.2021.696780.
    • Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
    • Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
    • Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
    • The preventive effect of breastfeeding against ovarian cancer in BRCA1 and BRCA2 mutation carriers: A systematic review and meta-analysis.
    • Eoh KJ, Park EY, Chang YJ, Ha HI, Hong J, Huang D, Nam EJ, Lim MC.
    • Gynecol Oncol. 2021 Jul 22:S0090-8258(21)00590-4. doi: 10.1016/j.ygyno.2021.07.028. Epub ahead of print.
    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
    • Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon MG, Golmard L, Rouleau E, Garrec C, Martinez M, Toulas C, Nguyen TD, Brayotel F, Crivelli L, Maugard CM, Bubien V, Sevenet N, Gesta P, Chieze-Valero S, Nambot S, Goussot V, Mari V, Popovici C, Prieur F, Morin-Meschin ME, Tinat J, Lortholary A, Dreyfus H, Bidart M, Collonge-Rame MA, Mozelle-Nivoix M, Gladieff L, Giraud S, Boutry-Kryza N, Chiesa J, Denizeau P, Bignon YJ, Uhrhammer N, Cohen-Haguenauer O, Vilquin P, Mailliez A, Coupier I, Rey JM, Lacaze E, Béra O, Colas C, Coulet F, Delnatte C, Houdayer C, Lasset C, Lemonnier J, Longy M, Noguès C, Stoppa-Lyonnet D, Vaur D, Andrieu N, Caron O.
    • Cancers (Basel). 2021 Jul 21;13(15):3659. doi: 10.3390/cancers13153659.
    • No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
    • Imbert-Bouteille M, Corsini C, Picot MC, Mizrahy L, Akouete S, Huguet H, Thomas F, Geneviève D, Taourel P, Ychou M, Galibert V, Rideau C, Baudry K, Kogut Kubiak T, Coupier I, Hobeika R, Macary Y, Toledano A, Solassol J, Maalouf A, Daures JP, Pujol P.
    • Genes (Basel). 2021 Jul 20;12(7):1100. doi: 10.3390/genes12071100.
    • Clinicopathological characterization of a real-world multicenter cohort of endometrioid ovarian carcinoma: Analysis of the French national ESME-Unicancer database.
    • De Nonneville A, Zemmour C, Frank S, Joly F, Ray-Coquard I, Costaz H, Classe JM, Floquet A, De la Motte Rouge T, Colombo PE, Sauterey B, Leblanc E, Pomel C, Marchal F, Barranger E, Savoye AM, Guillemet C, Petit T, Pautier P, Rouzier R, Gladieff L, Simon G, Courtinard C, Sabatier R.
    • Gynecol Oncol. 2021 Jul 19:S0090-8258(21)00581-3. doi: 10.1016/j.ygyno.2021.07.019. Epub ahead of print.
    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
    • Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
    • Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
    • Integration of histopathological images and multi-dimensional omics analyses predicts molecular features and prognosis in high-grade serous ovarian cancer.
    • Zeng H, Chen L, Zhang M, Luo Y, Ma X.
    • Gynecol Oncol. 2021 Jul 15:S0090-8258(21)00577-1. doi: 10.1016/j.ygyno.2021.07.015. Epub ahead of print.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country.
    • Krivokuca A, Mihajlovic M, Susnjar S, Spasojevic IB, Minic I, Popovic L, Brankovic-Magic M.
    • Curr Probl Cancer. 2021 Jul 10:100767. doi: 10.1016/j.currproblcancer.2021.100767. Epub ahead of print.
    • Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
    • Sekine M, Nishino K, Enomoto T.
    • Genes (Basel). 2021 Jul 8;12(7):1050. doi: 10.3390/genes12071050.
    • A competing risks model with binary time varying covariates for estimation of breast cancer risks in BRCA1 families.
    • Briollais L.
    • Stat Methods Med Res. 2021 Jul 7:9622802211008945. doi: 10.1177/09622802211008945. Epub ahead of print.
    • Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
    • Schrijver LH, Antoniou AC, Olsson H, Mooij TM, Roos-Blom MJ, Azarang L, Adlard J, Ahmed M, Barrowdale D, Davidson R, Donaldson A, Eeles R, Evans DG, Frost D, Henderson A, Izatt L, Ong KR, Bonadona V, Coupier I, Faivre L, Fricker JP, Gesta P, van Engelen K, Jager A, Menko FH, Mourits MJE, Singer CF, Tan YY, Foretova L, Navratilova M, Schmutzler RK, Ellberg C, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Rantala J, Osorio A, Hopper JL, Phillips KA, Milne RL, Beth Terry M, Noguès C, Engel C, Kast K, Goldgar DE, van Leeuwen FE, Easton DF, Andrieu N, Rookus MA; Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study.
    • Am J Obstet Gynecol. 2021 Jul;225(1):51.e1-51.e17. doi: 10.1016/j.ajog.2021.01.014. Epub 2021 Jan 22.
    • Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.
    • Laitman Y, Michaelson-Cohen R, Chen-Shtoyerman R, Goldberg Y, Reish O, Bernstein-Molho R, Levy-Lahad E, Baruch NEB, Kedar I, Evans DG, Haim S, Paluch-Shimon S, Friedman E.
    • Fam Cancer. 2021 Jul;20(3):189-194. doi: 10.1007/s10689-020-00216-y. Epub 2020 Nov 9.
    • Association between ovarian and breast masses among Chinese women in Chongqing based on ultrasonography screening: A cross-sectional study.
    • Li S, Li H, Tian S, Wu J, Chen YL, Xiao J, Wei JY, Liang XY, Ran L, Kong LQ.
    • Int J Gynaecol Obstet. 2021 Jul;154(1):142-149. doi: 10.1002/ijgo.13568. Epub 2021 Mar 8.
    • Ovarian metastasis from breast cancer mimicking a primary ovarian neoplasm: A case report.
    • Akizawa Y, Kanno T, Horibe Y, Shimizu Y, Noguchi E, Yamamoto T, Okamoto T, Nagashima Y, Tabata T.
    • Mol Clin Oncol. 2021 Jul;15(1):135. doi: 10.3892/mco.2021.2297. Epub 2021 May 17. PMID: 34055350; PMCID: PMC8145603.
    • Biologic behavior of resected BRCA-mutated pancreatic cancer: Comparison with sporadic pancreatic cancer and other BRCA-related cancers.
    • Kim SH, Kang CM.
    • Ann Hepatobiliary Pancreat Surg. 2021 Jun 30;25(Suppl 1):S149. doi: 10.14701/ahbps.BP-PP-1-2.
    • Breast cancer incidence in BRCA mutation carriers with ovarian cancer: A longitudal observational study.
    • Safra T, Waissengrin B, Gerber D, Bernstein-Molho R, Klorin G, Salman L, Josephy D, Chen-Shtoyerman R, Bruchim I, Frey MK, Pothuri B, Muggia F.
    • Gynecol Oncol. 2021 Jun 22:S0090-8258(21)00489-3. doi: 10.1016/j.ygyno.2021.06.009. Epub ahead of print.
    • Risk of epithelial ovarian cancer Type I and II after hysterectomy, salpingectomy and tubal ligation - A nationwide case control study.
    • Darelius A, Kristjansdottir B, Dahm-Kähler P, Strandell A.
    • Int J Cancer. 2021 Jun 21. doi: 10.1002/ijc.33714. Epub ahead of print.
    • Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines.
    • Kotnik U, Peterlin B, Lovrecic L.
    • BMC Cancer. 2021 Jun 3;21(1):665. doi: 10.1186/s12885-021-08400-8.
    • Gynecological lesions in hereditary cancer predisposition syndromes.
    • Dundr P, Cibula D, Foretová L, Macek M Jr, Kopecková K, Petruželka L, Nemejcová K, Bártu M, Hojný J, Hájková N, Jakša R, Janega P, Stružinská I.
    • Cesk Patol. 2021 Summer;57(2):96-104. English.
    • Re: ERCC3, a new ovarian cancer susceptibility gene?
    • Soukupova J, Zemankova P, Nehasil P, Kleibl Z; CZECANCA consortium.
    • Eur J Cancer. 2021 Jun;150:278-280. doi: 10.1016/j.ejca.2021.03.014. Epub 2021 Apr 21.
    • Letter, Comment

    Related:

    Original research:

    ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

    • Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).
    • Artioli G, Giannone G, Valabrega G, Maggiorotto F, Genta S, Pignata S, Lorusso D, Cormio G, Scalone S, Nicoletto MO, Greco F, Rossi E, Spagnoletti I, De Giorgi U, Orditura M, Mosconi AM, Kardhashi A, Bogliolo S, Borgato L.
    • Gynecol Oncol. 2021 Jun;161(3):755-761. doi: 10.1016/j.ygyno.2021.04.014. Epub 2021 Apr 20.
    • Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.
    • Gupta S, Rajappa S, Advani S, Agarwal A, Aggarwal S, Goswami C, Palanki SD, Arya D, Patil S, Kodagali R.
    • JCO Glob Oncol. 2021 Jun;7:849-861. doi: 10.1200/GO.21.00051.
    • NLR and BRCA mutational status in patients with high grade serous advanced ovarian cancer.
    • Marchetti C, D'Indinosante M, Bottoni C, Di Ilio C, Di Berardino S, Costantini B, Minucci A, Vertechy L, Scambia G, Fagotti A.
    • Sci Rep. 2021 May 27;11(1):11125. doi: 10.1038/s41598-021-90361-w.
    • Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
    • Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, Bono M, Cancelliere D, Calò V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Pedone E, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.
    • Front Oncol. 2021 Jun 11;11:682445. doi: 10.3389/fonc.2021.682445. Erratum in: Front Oncol. 2022 May 04;12:920342.
    • Ovarian cancer arising from the proximal fallopian tube in a patient with a BRCA2 mutation.
    • Badiner N, Nchako CM, Ma L, Frey MK.
    • Gynecol Oncol Rep. 2021 May 25;37:100795. doi: 10.1016/j.gore.2021.100795.
    • MET Expression and Cancer Stem Cell Networks Impact Outcome in High-Grade Serous Ovarian Cancer.
    • Bååth M, Jönsson JM, Westbom Fremer S, Martín de la Fuente L, Tran L, Malander S, Kannisto P, Måsbäck A, Honeth G, Hedenfalk I.
    • Genes (Basel). 2021 May 14;12(5):742. doi: 10.3390/genes12050742.
    • Plasma Protein Biomarkers Associated with Higher Ovarian Cancer Risk in BRCA1/2 Carriers.
    • Ahn HS, Ho JY, Yu J, Yeom J, Lee S, Hur SY, Jung Y, Kim K, Choi YJ.
    • Cancers (Basel). 2021 May 11;13(10):2300. doi: 10.3390/cancers13102300.
    • Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.
    • Li J, Han S, Zhang C, Luo Y, Wang L, Wang P, Wang Y, Xia Q, Wang X, Wei B, Ma J, Li H, Guo Y.
    • Front Oncol. 2021 May 11;11:655709. doi: 10.3389/fonc.2021.655709. Erratum in: Front Oncol. 2022 Jan 14;11:840551.

    Related:

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
    • Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk?
    • Haarlander T.
    • FORCE. Blog. 2021 May 3.

    Related:

    Research news: Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations. (FORCE. XRAY.)

    Original research:

    Hereditary Ovarian Cancer Clinical Study Group. Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.

    • A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
    • Park KS, Lee W, Seong MW, Kong SY, Lee KA, Ha JS, Cho EH, Han SH, Park I, Kim JW.
    • Cancers (Basel). 2021 May 2;13(9):2192. doi: 10.3390/cancers13092192.
    • Molecular characterization of high-grade serous ovarian cancers occurring in younger and older women.
    • Filippova OT, Selenica P, Pareja F, Vahdatinia M, Zhu Y, Pei X, Riaz N, Long Roche K, Chi DS, Abu-Rustum NR, Ellenson LH, Reis-Filho JS, Zamarin D, Weigelt B.
    • Gynecol Oncol. 2021 May;161(2):545-552. doi: 10.1016/j.ygyno.2021.02.028. Epub 2021 Mar 3.
    • Can TP53 variant negative be high-grade serous ovarian carcinoma? A case series.
    • Kasherman L, Garg S, Tchrakian N, Clarke B, Karakasis K, Kim RH, Stockley TL, Dhani N, Oza AM, Lheureux S.
    • Gynecol Oncol Rep. 2021 Feb 12;36:100729. doi: 10.1016/j.gore.2021.100729. eCollection 2021 May.
    • Secondary malignancies in long-term ovarian cancer survivors: results of the 'Carolin meets HANNA' study.
    • Woopen H, Rolf C, Braicu EI, Buttmann-Schweiger N, Barnes B, Baum J, Pietzner K, Kraywinkel K, Sehouli J.
    • Int J Gynecol Cancer. 2021 May;31(5):709-712. doi: 10.1136/ijgc-2020-002155. Epub 2021 Mar 1.
    • The results of multigene panel sequencing in Slovak HBOC families.
    • Konecny M, Kosova K, Tilandyova P, Wachsmannova L, Baldovic M, Krajcovic J, Patlevicova A, Markus J, Ciernikova S.
    • Neoplasma. 2021 May;68(3):652-664. doi: 10.4149/neo_2021_201204N1307. Epub 2021 Mar 17.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
    • Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
    • J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419.
    • Impact of age, comorbidity, and treatment characteristics on survival in older women with advanced high grade epithelial ovarian cancer.
    • Mallen A, Todd S, Robertson SE, Kim J, Sehovic M, Wenham RM, Extermann M, Chon HS.
    • Gynecol Oncol. 2021 Mar 31:S0090-8258(21)00228-6. doi: 10.1016/j.ygyno.2021.03.008. Epub ahead of print.
    • The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
    • Toss A, Piombino C, Tenedini E, Bologna A, Gasparini E, Tarantino V, Filieri ME, Cottafavi L, Giovanardi F, Madrigali S, Civallero M, Marcheselli L, Marchi I, Domati F, Venturelli M, Barbieri E, Grandi G, Tagliafico E, Cortesi L.
    • Diagnostics (Basel). 2021 Mar 21;11(3):565. doi: 10.3390/diagnostics11030565.
    • Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.
    • Ben Ayed-Guerfali D, Ben Kridis-Rejab W, Ammous-Boukhris N, Ayadi W, Charfi S, Khanfir A, Sellami-Boudawara T, Frikha M, Daoud J, Mokdad-Gargouri R.
    • J Transl Med. 2021 Mar 16;19(1):108. doi: 10.1186/s12967-021-02772-y.
    • Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.
    • Tariq H, Gul A, Khadim T, Ud-Din H, Tipu HN, Asif M, Ahmed R.
    • Asian Pac J Cancer Prev. 2021 Mar 1;22(3):719-724. doi: 10.31557/APJCP.2021.22.3.719.
    • Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels.
    • Crosbie EJ, Flaum N, Harkness EF, Clayton RD, Holland C, Martin-Hirsch P, Wood N, Keating P, Woodward ER, Lalloo F, Donnai P, Edmondson RJ, Evans DG.
    • Int J Cancer. 2021 Mar 1;148(5):1155-1163. doi: 10.1002/ijc.33378. Epub 2020 Nov 11.
    • Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
    • George SHL, Donenberg T, Alexis C, DeGennaro V Jr, Dyer H, Yin S, Ali J, Butler R, Chin SN, Curling D, Lowe D, Lunn J, Turnquest T, Wharfe G, Cerbon D, Barreto-Coelho P, Schlumbrecht MP, Akbari MR, Narod SA, Hurley JE.
    • JAMA Netw Open. 2021 Mar 1;4(3):e210307. doi: 10.1001/jamanetworkopen.2021.0307.
    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • Exploring the clinical significance of serous tubal intraepithelial carcinoma associated with advanced high-grade serous ovarian cancer: A Memorial Sloan Kettering Team Ovary Study.
    • Boerner T, Walch HS, Nguyen B, Iasonos A, Zhou QC, Schultz N, Chui MH, Grisham RN, Tew WP, O'Cearbhaill RE, Aghajanian C, Zivanovic O, Abu-Rustum NR, Gardner GJ, Sonoda Y, Chi DS, Long Roche K.
    • Gynecol Oncol. 2021 Mar;160(3):696-703. doi: 10.1016/j.ygyno.2020.12.022. Epub 2020 Dec 30.
    • Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
    • Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL.
    • Cancer Commun (Lond). 2021 Feb 25. doi: 10.1002/cac2.12134. Epub ahead of print.
    • Case Report: Frontoparietal Metastasis From a Primary Fallopian Tube Carcinoma.
    • Jang AI, Bernstock JD, Segar DJ, Distasio M, Matulonis U, Bi WL.
    • Front Surg. 2021 Feb 17;8:594570. doi: 10.3389/fsurg.2021.594570.
    • A Review of Cancer Genetics and Genomics Studies in Africa.
    • Rotimi SO, Rotimi OA, Salhia B.
    • Front Oncol. 2021 Feb 15;10:606400. doi: 10.3389/fonc.2020.606400.
    • Biologic behavior of resected BRCA-mutated pancreatic cancer: Comparison with sporadic pancreatic cancer and other BRCA-related cancers.
    • Kim SH, Hwang HK, Lee WJ, Kang CM.
    • Pancreatology. 2021 Feb 14:S1424-3903(21)00057-0. doi: 10.1016/j.pan.2021.02.007. Epub ahead of print.
    • Impact of clinical factors and surgical outcome on long-term survival in high-grade serous ovarian cancer: a multicenter analysis.
    • Baum J, Braicu EI, Hunsicker O, Vergote I, Concin N, Van Nieuwenhuysen E, Feldheiser A, Achimas-Cadariu P, Darb-Esfahani S, Berger A, Fetica B, Mahner S, Papadia A, Wölber L, Gasparri ML, Vanderstichele A, Benedetti Panici P, Mueller MD, Ruscito I, Woopen H, Sehouli J.
    • Int J Gynecol Cancer. 2021 Feb 9:ijgc-2020-002023. doi: 10.1136/ijgc-2020-002023. Epub ahead of print.
    • The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study.
    • Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, Yamashita H, Watari H, Yabe I, Nomura H, Enomoto T, Nakamura S; and the Registration Committee of the Japanese HBOC consortium.
    • World J Surg Oncol. 2021 Feb 2;19(1):36. doi: 10.1186/s12957-021-02151-3.
    • BRCA-2 (+) high-grade serous fallopian tube cancer diagnosed as an isolated breast mass by mammography.
    • Sobecki JN, Dryer KA, Mahajan AM, Spencer RJ.
    • Gynecol Oncol Rep. 2020 Dec 25;35:100690. doi: 10.1016/j.gore.2020.100690. eCollection 2021 Feb.
    • First- and second-degree family history of ovarian and breast cancer in relation to risk of invasive ovarian cancer in African American and White women.
    • Bethea TN, Ochs-Balcom HM, Bandera EV, Beeghly-Fadiel A, Camacho F, Chyn D, Cloyd EK, Harris HR, Joslin CE, Myers E, Moorman PG, Peres LC, Rosenow W, Setiawan VW, Wu AH, Rosenberg L, Schildkraut JM.
    • Int J Cancer. 2021 Jan 31. doi: 10.1002/ijc.33493. Epub ahead of print.
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jan 28.

    Related:

    Original research:

    Hereditary Ovarian Cancer Clinical Study Group. Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
    • Baughan S, Tainsky MA.
    • Cancers (Basel). 2021 Jan 25;13(3):447. doi: 10.3390/cancers13030447.
    • BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update.
    • Savanevich A, Ashuryk O, Cybulski C, Lubinski J, Gronwald J.
    • Hered Cancer Clin Pract. 2021 Jan 21;19(1):13. doi: 10.1186/s13053-021-00169-y.
    • A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.
    • Kwong A, Ho CYS, Shin VY, Au CH, Chan TL, Ma ESK.
    • Int J Mol Sci. 2021 Jan 17;22(2):E889. doi: 10.3390/ijms22020889.
    • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
    • Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA.
    • J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
    • Impact of young age on platinum response in women with epithelial ovarian cancer: Results of a large single-institution registry.
    • Michels J, Genestie C, Dunant A, Caron O, Lanoy E, Colomba E, Pommeret F, Rey A, Gouy S, Duvillard P, Teuff GL, Larue C, Savoye AM, Lhommé C, Leary A, Morice P, Pautier P.
    • Gynecol Oncol. 2021 Jan;160(1):77-82. doi: 10.1016/j.ygyno.2020.09.050. Epub 2020 Oct 12.
    • Prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers: what is going on in a region of northern Italy?
    • Grandi G, Perrone AM, Perrone A, Mandato VD, Comerci G, Sammarini M, Merisio C, Amadori A, Stefanetti M, Martinello R, Facchinetti F, De Iaco P; Brca Emilia-Romagna Gyneco-Oncological (BERGO) Collaborative Group.
    • Maturitas. 2021 Jan;143:59-64. doi: 10.1016/j.maturitas.2020.08.011. Epub 2020 Aug 31.
    • Histological Characteristics and Early-Stage Diagnosis Are Associated With Better Survival in Young Patients With Epithelial Ovarian Cancer: A Retrospective Analysis Based on Surveillance Epidemiology and End Results Database.
    • Huang Y, Ming X, Li B, Li Z.
    • Front Oncol. 2020 Dec 23;10:595789. doi: 10.3389/fonc.2020.595789.
    • Hereditary ovarian tumour syndromes: current update on genetics and imaging.
    • Shanbhogue KP, Prasad AS, Ucisik-Keser FE, Katabathina VS, Morani AC.
    • Clin Radiol. 2020 Dec 19:S0009-9260(20)30605-X. doi: 10.1016/j.crad.2020.11.116. Epub ahead of print.
    • Review
    • Niraparib as Maintenance Therapy in Germline ATM-mutated and Somatic BRCA2-mutated Ovarian Cancer with Brain Metastases: A Case Report and Literature Review.
    • Tao M, Cheng J, Wu X.
    • Onco Targets Ther. 2020 Dec 18;13:12979-12986. doi: 10.2147/OTT.S281302.
    • Synchronous and Metachronous Breast and Ovarian Cancer: Experience From Two Large Cancer Center.
    • Tasca G, Dieci MV, Baretta Z, Faggioni G, Montagna M, Nicoletto MO, Peccatori FA, Guarneri V, Colombo N.
    • Front Oncol. 2020 Dec 14;10:608783. doi: 10.3389/fonc.2020.608783.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • ERCC3, a new ovarian cancer susceptibility gene?
    • Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, González S, Montes E, López-Doriga A, Gómez C, de Cid R, Darder E, Teulé A, Solanes A, Munté E, Capellà G, Pineda M, Feliubadaló L, Brunet J, Lázaro C.
    • Eur J Cancer. 2020 Dec;141:1-8. doi: 10.1016/j.ejca.2020.09.023. Epub 2020 Oct 23.

    Related:

    Letter, Comment:

    Re: ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

    • Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.
    • Kotsopoulos J, Gronwald J, McCuaig JM, Karlan BY, Eisen A, Tung N, Bordeleau L, Senter L, Eng C, Couch F, Fruscio R, Weitzel JN, Olopade O, Singer CF, Pal T, Foulkes WD, Neuhausen SL, Sun P, Lubinski J, Narod SA; Hereditary Ovarian Cancer Clinical Study Group.
    • Gynecol Oncol. 2020 Dec;159(3):820-826. doi: 10.1016/j.ygyno.2020.09.037. Epub 2020 Sep 30.

    Related:

    Research news: Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations. (FORCE. XRAY.)

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

    • BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.
    • Oliverio A, Bruno E, Colombo M, Paradiso A, Tommasi S, Daniele A, Terribile DA, Magno S, Guarino D, Manoukian S, Peissel B, Radice P, Pasanisi P.
    • Cancers (Basel). 2020 Nov 30;12(12):3584. doi: 10.3390/cancers12123584.
    • The significance of ovarian fibrosis.
    • Landry DA, Vaishnav HT, Vanderhyden BC.
    • Oncotarget. 2020 Nov 24;11(47):4366-4370. doi: 10.18632/oncotarget.27822.
    • Breast Cancer Mortality among Women with a BRCA1 or BRCA2 Mutation in a Magnetic Resonance Imaging Plus Mammography Screening Program.
    • Warner E, Zhu S, Plewes DB, Hill K, Ramsay EA, Causer PA, Seely J, Jong RA, Lenkov P, Elser C, Crystal P, Yaffe MJ, Giannakeas V, Sun P, Narod SA.
    • Cancers (Basel). 2020 Nov 23;12(11):3479. doi: 10.3390/cancers12113479.
    • Radiologic-Histopathologic Correlation of Transvaginal US and Risk-reducing Salpingo-oophorectomy for Women at High Risk for Tubo-ovarian Carcinoma.
    • Sakala MD, Curci NE, Masch WR, Mendiratta-Lala M, Stein EB, Wasnik AP, Sciallis AP, Uppal S, Pearlman MD, Maturen KE.
    • Radiol Imaging Cancer. 2020 Nov 13;2(6):e190086. doi: 10.1148/rycan.2020190086.
    • Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
    • Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration, Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center, Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A.
    • Nature. 2020 Oct 21. doi: 10.1038/s41586-020-2853-0. Epub ahead of print.
    • Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer.
    • Pavanello M, Chan IH, Ariff A, Pharoah PD, Gayther SA, Ramus SJ.
    • Cancers (Basel). 2020 Oct 19;12(10):3046. doi: 10.3390/cancers12103046.
    • Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20 years.
    • Weiss AS, Swisher E, Pennington KP, Radke M, Khasnavis N, Garcia RL, Kilgore MR, Lee MK, Norquist BM.
    • Gynecol Oncol. 2020 Oct;159(1):214-220. doi: 10.1016/j.ygyno.2020.06.509. Epub 2020 Jul 21.
    • Molecular Biomarkers for Early Detection and Prevention of Ovarian Cancer-A Gateway for Good Prognosis: A Narrative Review.
    • Yadav G, Vashisht M, Yadav V, Shyam R.
    • Int J Prev Med. 2020 Sep 3;11:135. doi: 10.4103/ijpvm.IJPVM_75_19.
    • Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer.
    • Kalachand RD, O'Riain C, Toomey S, Carr A, Timms KM, O'Toole S, Madden S, Bates M, O'Leary JJ, Gleeson N, O'Donnell D, Grogan L, Breathnach O, Farrelly A, Stordal B, Hennessy BT.
    • Obstet Gynecol Sci. 2020 Sep 2. doi: 10.5468/ogs.20030. Epub ahead of print.
    • Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer - Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
    • Ataseven B, Tripon D, Rhiem K, Harter P, Schneider S, Heitz F, Baert T, Traut A, Pauly N, Ehmann S, Plett H, Schmutzler RK, du Bois A.
    • Geburtshilfe Frauenheilkd. 2020 Sep;80(9):932-940. doi: 10.1055/a-1222-0042. Epub 2020 Sep 2.
    • Clinical implications of next-generation sequencing-based panel tests for malignant ovarian tumors.
    • Saotome K, Chiyoda T, Aimono E, Nakamura K, Tanishima S, Nohara S, Okada C, Hayashi H, Kuroda Y, Nomura H, Susumu N, Iwata T, Yamagami W, Kataoka F, Nishihara H, Aoki D.
    • Cancer Med. 2020 Aug 19. doi: 10.1002/cam4.3383. Epub ahead of print.
    • Conditional Probability of Survival and Prognostic Factors in Long-Term Survivors of High-Grade Serous Ovarian Cancer.
    • Fabbro M, Colombo PE, Leaha CM, Rouanet P, Carrère S, Quenet F, Gutowski M, Mourregot A, D'Hondt V, Coupier I, Vendrell J, Vilquin P, Pujol P, Solassol J, Mollevi C.
    • Cancers (Basel). 2020 Aug 5;12(8):E2184. doi: 10.3390/cancers12082184.
    • Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study.
    • Lertkhachonsuk AA, Suprasert P, Manchana T, Kittisiam T, Kantathavorn N, Chansoon T, Khunamornpong S, Pohthipornthawat N, Tangjitgamol S, Luasiripanthu T, Teerapakpinyo C, Shuangshot S, Iemwimangsa N, Chantratita W.
    • Asian Pac J Cancer Prev. 2020 Aug 1;21(8):2381-2388. doi: 10.31557/APJCP.2020.21.8.2381.
    • Penetrance of Breast and Ovarian Cancer in Women Who Carry a BRCA1/2 Mutation and Do Not Use Risk-Reducing Salpingo-Oophorectomy: An Updated Meta-Analysis.
    • Chen J, Bae E, Zhang L, Hughes K, Parmigiani G, Braun D, Rebbeck TR.
    • JNCI Cancer Spectr. 2020 Apr 23 [eCollection 2020 Aug.];4(4):pkaa029. doi: 10.1093/jncics/pkaa029.
    • Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.
    • Peixoto A, Pinto P, Guerra J, Pinheiro M, Santos C, Pinto C, Santos R, Escudeiro C, Bartosch C, Canário R, Barbosa A, Gouveia A, Petiz A, Abreu MH, Sousa S, Pereira D, Silva J, Teixeira MR.
    • Front Oncol. 2020 Jul 31;10:1318. doi: 10.3389/fonc.2020.01318.
    • Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome.
    • Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, Yamashita H, Watari H, Yabe I, Nomura H, Enomoto T, Nakamura S; Registration Committee of the Japanese HBOC Consortium.
    • Jpn J Clin Oncol. 2020 Jul 17:hyaa124. doi: 10.1093/jjco/hyaa124. Epub ahead of print.
    • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
    • Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Bialkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN; kConFab Investigators; HEBON Investigators; GENEPSO Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse TA, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud JT, Lubinski J, Mai PL, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nikitina-Zake L, Noguès C, Olah E, Olopade OI, Ong KR, O'Shaughnessy-Kirwan A, Osorio A, Ott CE, Papi L, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips KA, Prajzendanc K, Pujana MA, Radice P, Ramser J, Ramus SJ, Rantala J, Rennert G, Risch HA, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah PD, Sharma P, Side LE, Singer CF, Slavin TP, Soucy P, Southey MC, Spurdle AB, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Trainer AH, Tung N, van Engelen K, van Rensburg EJ, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC; Consortium of Investigators of Modifiers of BRCA and BRCA2.
    • Genet Med. 2020 Jul 15. doi: 10.1038/s41436-020-0862-x. Epub ahead of print.
    • The Landscape and Therapeutic Implications of Molecular Profiles in Epithelial Ovarian Cancer.
    • Dion L, Carton I, Jaillard S, Nyangoh Timoh K, Henno S, Sardain H, Foucher F, Levêque J, de la Motte Rouge T, Brousse S, Lavoué V.
    • J Clin Med. 2020 Jul 15;9(7):E2239. doi: 10.3390/jcm9072239.
    • Long-term response to Olaparib in carcinomatous meningitis of a BRCA2 mutated ovarian cancer: A case report.
    • Favier L, Truc G, Boidot R, Bengrine-Lefevre L.
    • Mol Clin Oncol. 2020 Jul;13(1):73-75. doi: 10.3892/mco.2020.2035. Epub 2020 Apr 27.
    • Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.
    • Bozsik A, Pócza T, Papp J, Vaszkó T, Butz H, Patócs A, Oláh E.
    • Int J Mol Sci. 2020 Jun 30;21(13):E4650. doi: 10.3390/ijms21134650.
    • Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
    • Dullens B, de Putter R, Lambertini M, Toss A, Han S, Van Nieuwenhuysen E, Van Gorp T, Vanderstichele A, Van Ongeval C, Keupers M, Prevos R, Celis V, Dekervel J, Everaerts W, Wildiers H, Nevelsteen I, Neven P, Timmerman D, Smeets A, Denayer E, Van Buggenhout G, Legius E, Punie K.
    • J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954.
    • CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
    • Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B.
    • Int J Environ Res Public Health. 2020 Jun 18;17(12):E4397. doi: 10.3390/ijerph17124397.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Five-year survival decreases over time in patients with BRCA-mutated ovarian cancer: a systemic review and meta-analysis.
    • Nahshon C, Barnett-Griness O, Segev Y, Schmidt M, Ostrovsky L, Lavie O.
    • Int J Gynecol Cancer. 2020 Jun 9:ijgc-2020-001392. doi: 10.1136/ijgc-2020-001392. Epub ahead of print.
    • Meta-analysis
    • Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.
    • Yoshihara K, Enomoto T, Aoki D, Watanabe Y, Kigawa J, Takeshima N, Inomata H, Hattori K, Jinushi M, Tsuda H, Sugiyama T.
    • Cancer Sci. 2020 Jun 3. doi: 10.1111/cas.14513. Epub ahead of print.
    • Double mutation of APC and BRCA1 in an Italian family.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Resse M, Passariello L, Cioffi M, Molinari AM.
    • Cancer Genet. 2020 Jun;244:32-35. doi: 10.1016/j.cancergen.2020.04.074. Epub 2020 Apr 28.
    • Case report
    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
    • Capoluongo E, De Matteis E, Cucinotto I, Ronzino G, Santonocito C, Tornesello A, De Giorgio MR, Lucci Cordisco E, Minucci A, Genuardi M.
    • Clin Chem Lab Med. 2020 May 12:/j/cclm.ahead-of-print/cclm-2020-0389/cclm-2020-0389.xml. doi: 10.1515/cclm-2020-0389. Epub ahead of print.
    • Case report, Letter
    • The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
    • van der Merwe NC, Oosthuizen J, Theron M, Chong G, Foulkes WD.
    • BMC Cancer. 2020 May 6;20(1):391. doi: 10.1186/s12885-020-06917-y.
    • BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
    • Suszynska M, Ratajska M, Kozlowski P.
    • J Ovarian Res. 2020 May 2;13(1):50. doi: 10.1186/s13048-020-00654-3.
    • Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family.
    • Liao Y, Tu C, Song X, Cai L.
    • J Assist Reprod Genet. 2020 Apr 30. doi: 10.1007/s10815-020-01783-w. [Epub ahead of print]
    • Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
    • Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J.
    • Cancers (Basel). 2020 Apr 13;12(4). pii: E956. doi: 10.3390/cancers12040956.
    • Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
    • Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV.
    • JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959.

    Related:

    Press: Family History Insufficient to Determine High Risk of Gene-Linked CVD or Cancer. (Clinical OMICs)

    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
    • Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM.
    • Eur J Hum Genet. 2020 Mar 20. doi: 10.1038/s41431-020-0612-1. [Epub ahead of print]
    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
    • Riedlova P, Janoutova J, Hermanova B.
    • Mol Biol Rep. 2020 Mar 16. doi: 10.1007/s11033-020-05378-7. [Epub ahead of print]
    • Non-Surgical Cancer Risk Reduction in BRCA1 Mutation Carriers: Disabling the Remote Control.
    • Widschwendter M, Dubeau L.
    • Cancers (Basel). 2020 Feb 27;12(3). pii: E547. doi: 10.3390/cancers12030547.
    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
    • Yarmolinsky J, Bull CJ, Vincent EE, Robinson J, Walther A, Smith GD, Lewis SJ, Relton CL, Martin RM.
    • JAMA. 2020 Feb 18;323(7):646-655. doi: 10.1001/jama.2020.0150.
    • Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician.
    • Bachert SE, McDowell A Jr, Piecoro D, Baldwin Branch L.
    • Diagnostics (Basel). 2020 Feb 13;10(2). pii: E102. doi: 10.3390/diagnostics10020102.
    • Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
    • Reijnen C, Küsters-Vandevelde HVN, Ligtenberg MJL, Bulten J, Oosterwegel M, Snijders MPLM, Sweegers S, de Hullu JA, Vos MC, van der Wurff AAM, van Altena AM, Eijkelenboom A, Pijnenborg JMA.
    • Int J Cancer. 2020 Feb 5. doi: 10.1002/ijc.32907. [Epub ahead of print]
    • Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant.
    • Park HS, Ryu JM, Park , Im SA, Jung SY, Kim EK, Park WC, Min JW, Lee J, You JY, Lee JE, Kim SW.
    • Cancer Res Treat. 2020 Jan 28. doi: 10.4143/crt.2019.351. [Epub ahead of print]
    • Risk of specific types of ovarian cancer after borderline ovarian tumors in Denmark: a nationwide-based study.
    • Hannibal CG, Frederiksen K, Vang R, Kurman RJ, Kjaer SK.
    • Int J Cancer. 2020 Jan 12. doi: 10.1002/ijc.32864. [Epub ahead of print]
    • Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors.
    • Ryu JM, Nam SJ, Kim SW, Lee JE, Chae BJ, Lee SK, Yu J.
    • Jpn J Clin Oncol. 2020 Jan 11. pii: hyz147. doi: 10.1093/jjco/hyz147. [Epub ahead of print]
    • Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients.
    • Gallardo-Rincón D, Álvarez-Gómez RM, Montes-Servín E, Toledo-Leyva A, Montes-Servín E, Michel-Tello D, Alamilla-García G, Bahena-González A, Hernández-Nava E, Fragoso-Ontiveros V, Espinosa-Romero R, Cetina-Pérez L.
    • Transl Oncol. 2019 Dec 20;13(2):212-220. doi: 10.1016/j.tranon.2019.11.003. [Epub ahead of print]
    • Increased Overall Mortality Even after Risk Reducing Surgery for BRCA-Positive Women in Western Sweden.
    • Öfverholm A, Einbeigi Z, Wigermo A, Holmberg E, Karsson P.
    • Genes (Basel). 2019 Dec 16;10(12). pii: E1046. doi: 10.3390/genes10121046.
    • BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.
    • Wang Y, Bernhardy AJ, Nacson J, Krais JJ, Tan YF, Nicolas E, Radke MR, Handorf E, Llop-Guevara A, Balmaña J, Swisher EM, Serra V, Peri S, Johnson N.
    • Nat Commun. 2019 Dec 11;10(1):5661. doi: 10.1038/s41467-019-13530-6.
    • Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.
    • Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ.
    • Cancer Res. 2019 Dec 10. pii: canres.1991.2019. doi: 10.1158/0008-5472.CAN-19-1991. [Epub ahead of print]
    • MUTATIONS OF GENES BRCA1 AND BRCA2 IN WOMEN WITH OVARIAN CANCER EXPOSED TO FACTORS OF CHORNOBYL NUCLEAR ACCIDENT.
    • Rybchenko LA, Poluben LO, Bychkova GM, Stephanovych GV, Klymenko SV.
    • Probl Radiac Med Radiobiol. 2019 Dec;24:455-464. doi: 10.33145/2304-8336-2019-24-455-464.
    • Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer.
    • Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV.
    • medRxiv. 2019 Nov 29. doi: 10.1101/19013086. [Epub ahead of print]

    Related:

    Press: Polygenic Modifiers of Pathogenic Genes May Refine Disease Risk Prediction. (GenomeWeb)

    • Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.
    • Sugino K, Tamura R, Nakaoka H, Yachida N, Yamaguchi M, Mori Y, Yamawaki K, Suda K, Ishiguro T, Adachi S, Isobe M, Yamaguchi M, Kashima K, Motoyama T, Inoue I, Yoshihara K, Enomoto T.
    • Sci Rep. 2019 Nov 28;9(1):17808. doi: 10.1038/s41598-019-54116-y.
    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
    • Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.
    • Manchana T, Phowthongkum P, Teerapakpinyo C.
    • World J Clin Oncol. 2019 Nov 24;10(11):358-368. doi: 10.5306/wjco.v10.i11.358.
    • Challenging the believed proportion of ovarian cancer attributable to BRCA2 versus BRCA1 pathogenic variants.
    • Flaum N, Crosbie EJ, Woodward ER, Lalloo F, Gareth Evans D.
    • Eur J Cancer. 2019 Nov 21;124:88-90. doi: 10.1016/j.ejca.2019.10.018. [Epub ahead of print]
    • Letter
    • Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: A systematic review and case report analysis.
    • Le Page C, Rahimi K, Rodrigues M, Heinzelmann-Schwarz V, Recio N, Tommasi S, Bataillon G, Portelance L, Golmard L, Meunier L, Tonin PN, Gotlieb W, Yasmeen A, Ray-Coquard I, Labidi-Galy SI, Provencher D, Mes-Masson AM.
    • Gynecol Oncol. 2019 Nov 18. pii: S0090-8258(19)31670-1. doi: 10.1016/j.ygyno.2019.11.019. [Epub ahead of print]
    • Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
    • Dowson CB, Stewart C, O'Sullivan S, Pachter N, Schofield L, Cohen PA.
    • Int J Gynecol Cancer. 2019 Nov 7. pii: ijgc-2019-000540. doi: 10.1136/ijgc-2019-000540. [Epub ahead of print]
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Women With Synchronous or Metachronous Lung and Ovarian Cancer: A Multi-Institutional Report.
    • Mariniello A, Ghisoni E, Righi L, Catino A, Chiari R, Del Conte A, Barbieri F, Cecere F, Gelibter A, Giajlevra M, Parra HS, Zichi C, DI Maio M, Valabrega G, Novello S.
    • In Vivo. 2019 Nov-Dec;33(6):2021-2026. doi: 10.21873/invivo.11699.
    • Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea.
    • Seo JH, Jeong SY, Kim MS, Kang JH, Paik ES, Lee YY, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH.
    • Obstet Gynecol Sci. 2019 Nov;62(6):411-419. doi: 10.5468/ogs.2019.62.6.411. Epub 2019 Oct 11.
    • BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.
    • Chao A, Lin YH, Yang LY, Wu RC, Chang WY, Chang PY, Chang SC, Lin CY, Huang HJ, Lin CT, Chou HH, Huang KG, Kuo WL, Chang TC, Lai CH.
    • J Gynecol Oncol. 2019 Oct 25. doi: 10.3802/jgo.2020.31.e24. [Epub ahead of print]
    • BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.
    • Cifuentes-C L, Rivera-Herrera AL, Barreto G.
    • Colomb Med (Cali). 2019 Sep 30;50(3):163-175. doi: 10.25100/cm.v50i3.2385.
    • A comparison of ovarian cancer mortality in women with BRCA1 mutations undergoing annual ultrasound screening or preventive oophorectomy.
    • Gronwald J, Lubinski J, Huzarski T, Cybulski C, Menkiszak J, Siołek M, Stawicka M, Sun P, Kim S, Kotsopoulos J, Narod SA.
    • Gynecol Oncol. 2019 Sep 6. pii: S0090-8258(19)31486-6. doi: 10.1016/j.ygyno.2019.08.034. [Epub ahead of print]
    • Epigenetic Risk Assessment of Female Cancers: Women's Information Needs and Attitudes.
    • Rebitschek FG, Reisel D, Lein I, Wegwarth O.
    • Public Health Genomics. 2019 Sep 4;22(1-2):46-57. doi: 10.1159/000501975. [Epub ahead of print]
    • Inherited cancer syndromes in 220 Italian ovarian cancer patients.
    • Carnevali I, Riva C, Chiaravalli AM, Sahnane N, Di Lauro E, Viel A, Rovera F, Formenti G, Ghezzi F, Sessa F, Tibiletti MG.
    • Cancer Genet. 2019 Sep;237:55-62. doi: 10.1016/j.cancergen.2019.06.005. Epub 2019 Jun 12.
    • Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
    • Papamentzelopoulou M, Apostolou P, Fostira F, Dimitrakakis C, Loutradis D, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • Cancer Genet. 2019 Sep;237:90-96. doi: 10.1016/j.cancergen.2019.06.006. Epub 2019 Jun 12.
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group.
    • Bu H, Chen J, Li Q, Hou J, Wei Y, Yang X, Ma Y, He H, Zhang Y, Kong B.
    • J Obstet Gynaecol Res. 2019 Aug 14. doi: 10.1111/jog.14090. [Epub ahead of print]
    • BRCA mutation in high grade epithelial ovarian cancers.
    • Manchana T, Phoolcharoen N, Tantbirojn P.
    • Gynecol Oncol Rep. 2019 Aug 13;29:102-105. doi: 10.1016/j.gore.2019.07.007. eCollection 2019 Aug.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
    • Mol Genet Genomic Med. 2019 Jul 17:e879. doi: 10.1002/mgg3.879. [Epub ahead of print]
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • Association between the cervicovaginal microbiome, BRCA1 mutation status, and risk of ovarian cancer: a case-control study.
    • Nené NR, Reisel D, Leimbach A, Franchi D, Jones A, Evans I, Knapp S, Ryan A, Ghazali S, Timms JF, Paprotka T, Bjørge L, Zikan M, Cibula D, Colombo N, Widschwendter M.
    • Lancet Oncol. 2019 Jul 9. pii: S1470-2045(19)30340-7. doi: 10.1016/S1470-2045(19)30340-7. [Epub ahead of print]

    Related:

    Commentary:

    Of microbes and women: BRCA1, vaginal microbiota, and ovarian cancer.

    • Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.
    • Ashour M, Ezzat Shafik H.
    • Cancer Manag Res. 2019 Jul 8;11:6275-6284. doi: 10.2147/CMAR.S206817. eCollection 2019.
    • Ovarian cancer risk factors by tumor aggressiveness: An analysis from the Ovarian Cancer Cohort Consortium.
    • Fortner RT, Poole EM, Wentzensen NA, Trabert B, White E, Arslan AA, Patel AV, Setiawan VW, Visvanathan K, Weiderpass E, Adami HO, Black A, Bernstein L, Brinton LA, Buring J, Clendenen TV, Fournier A, Fraser G, Gapstur SM, Gaudet MM, Giles GG, Gram IT, Hartge P, Hoffman-Bolton J, Idahl A, Kaaks R, Kirsh VA, Knutsen S, Koh WP, Lacey JV Jr, Lee IM, Lundin E, Merritt MA, Milne RL, Onland-Moret NC, Peters U, Poynter JN, Rinaldi S, Robien K, Rohan T, Sánchez MJ, Schairer C, Schouten LJ, Tjonneland A, Townsend MK, Travis RC, Trichopoulou A, van den Brandt PA, Vineis P, Wilkens L, Wolk A, Yang HP, Zeleniuch-Jacquotte A, Tworoger SS.
    • Int J Cancer. 2019 Jul 1;145(1):58-69. doi: 10.1002/ijc.32075. Epub 2019 Jan 14.
    • Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.
    • Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH.
    • Cancer Res Treat. 2019 Jul;51(3):941-950. doi: 10.4143/crt.2018.312. Epub 2018 Oct 8.
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • The first Japanese nationwide multicenter study of BRCA mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to Ovarian cancer geneTic TEsting of BRCA (CHARLOTTE).
    • Enomoto T, Aoki D, Hattori K, Jinushi M, Kigawa J, Takeshima N, Tsuda H, Watanabe Y, Yoshihara K, Sugiyama T.
    • Int J Gynecol Cancer. 2019 Jul;29(6):1043-1049. doi: 10.1136/ijgc-2019-000384.
    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
    • Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.
    • Br J Cancer. 2019 Jun 19. doi: 10.1038/s41416-019-0492-8. [Epub ahead of print]
    • BRCA germline mutation test for all woman with ovarian cancer?
    • Paradiso AV, Digennaro M, Patruno M, De Summa S, Tommasi S, Berindan-Neagoe I.
    • BMC Cancer. 2019 Jun 28;19(1):641. doi: 10.1186/s12885-019-5829-4.
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • Increased risk of brain metastases in ovarian cancer patients with BRCA mutations.
    • Ratner E, Bala M, Louie-Gao M, Aydin E, Hazard S, Brastianos PK.
    • Gynecol Oncol. 2019 Jun;153(3):568-573. doi: 10.1016/j.ygyno.2019.03.004. Epub 2019 Mar 12.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • Epithelial ovarian cancer risk: a review of the current genetic landscape.
    • Flaum N, Crosbie EJ, Edmondson RJ, Smith MJ, Evans DG.
    • Clin Genet. 2019 May 16. doi: 10.1111/cge.13566. [Epub ahead of print]
    • Review
    • Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.
    • Kim SI, Lee M, Kim HS, Chung HH, Kim JW, Park NH, Song YS.
    • J Ovarian Res. 2019 May 7;12(1):40. doi: 10.1186/s13048-019-0511-7.
    • Hereditary ovarian cancers: state of the art.
    • Toss A, Molinaro E, Sammarini M, Del Savio MC, Cortesi L, Facchinetti F, Grandi G.
    • Minerva Med. 2019 May 6. doi: 10.23736/S0026-4806.19.06091-9. [Epub ahead of print]
    • Review
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.
    • Hollis RL, Carmichael J, Meynert AM, Churchman M, Hallas-Potts A, Rye T, Mackean M, Nussey F, Semple CA, Herrington CS, Gourley C.
    • Am J Obstet Gynecol. 2019 May 2. pii: S0002-9378(19)30620-9. doi: 10.1016/j.ajog.2019.04.035. [Epub ahead of print]
    • Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer.
    • Lavie O, Chetrit A, Novikov I, Sadetzki S; National Israeli Study of Ovarian Cancer.
    • Gynecol Oncol. 2019 May;153(2):320-325. doi: 10.1016/j.ygyno.2019.02.022. Epub 2019 Mar 11.
    • Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up.
    • Blok F, Dasgupta S, Dinjens WNM, Roes EM, van Beekhuizen HJ, Ewing-Graham PC.
    • Gynecol Oncol. 2019 May;153(2):326-334. doi: 10.1016/j.ygyno.2019.03.003. Epub 2019 Mar 18.
    • Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Clamp AR, Hasan J, Mitchell CL, Schlecht H, Woodward ER, Lallo FI, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • J Med Genet. 2019 May;56(5):301-307. doi: 10.1136/jmedgenet-2018-105792. Epub 2019 Jan 25.
    • A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers.
    • Baquero JM, Benítez-Buelga C, Fernández V, Urioste M, García-Giménez JL, Perona R; CIMBA Consortium, Benítez J, Osorio A.
    • Mol Oncol. 2019 May;13(5):1110-1120. doi: 10.1002/1878-0261.12470. Epub 2019 Mar 1.
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
    • Deng H, Chen M, Guo X, Heng J, Xu X, Peng L, Jiang H, Li G, Day JX, Li J, Shan D, Li Y, Zhou Y, Liu B, Dai L, Wang X, Wang J.
    • Mol Genet Genomic Med. 2019 Apr 10:e672. doi: 10.1002/mgg3.672. [Epub ahead of print]
    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Apr 9;321(14):1340-1341. doi: 10.1001/jama.2019.0967.

    Related:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

    Related:

    Press: Genetic Testing Under-Utilized in Ovarian Cancer. (Medscape Oncology)

    • Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
    • Wang X, Liu H, Maimaitiaili A, Zhao G, Li S, Lv Z, Wu D, Shi A, Guan X, Jia H, Li M, Song D, Kang L, Han B, Fu T, Yang M, Zhu Z, Du Y, Song Y, Hong J, Fan Z.
    • Mol Genet Genomic Med. 2019 Apr 9:e677. doi: 10.1002/mgg3.677. [Epub ahead of print]
    • Direct Genetics Referral Pathway for High-Grade Serous Ovarian Cancer Patients: The "Opt-Out" Process.
    • McGee J, Peart TM, Foley N, Bertrand M, Prefontaine M, Sugimoto A, Ettler H, Welch S, Panabaker K.
    • J Oncol. 2019 Apr 2;2019:6029097. doi: 10.1155/2019/6029097. eCollection 2019.
    • Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
    • Singer CF, Tan YY, Muhr D, Rappaport C, Gschwantler-Kaulich D, Grimm C, Polterauer S, Pfeiler G, Berger A, Tea MM.
    • Cancer Med. 2019 Apr;8(4):1875-1881. doi: 10.1002/cam4.2000. Epub 2019 Mar 1.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [Epub ahead of print]
    • Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.
    • Villa R, Azzollini J, Peissel B, Manoukian S.
    • Gynecol Oncol Rep. 2019 Mar 17;28:68-70. doi: 10.1016/j.gore.2019.03.010. eCollection 2019 May.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
    • Cui Y, Wang Y, Zhang N, He J, Huang H, Liu F, Wei S, Dong Q, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Zhao Q, Li W, Jiang D, Banerjee S.
    • Oncol Lett. 2019 Mar;17(3):3350-3354. doi: 10.3892/ol.2019.9950. Epub 2019 Jan 21.
    • High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints.
    • Lisio MA, Fu L, Goyeneche A, Gao ZH, Telleria C.
    • Int J Mol Sci. 2019 Feb 22;20(4). pii: E952. doi: 10.3390/ijms20040952.
    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk.
    • Yang Y, Wu L, Shu X, Lu Y, Shu XO, Cai Q, Beeghly-Fadiel A, Li B, Ye F, Berchuck A, Anton-Culver H, Banerjee S, Benitez J, Bjørge L, Brenton JD, Butzow R, Campbell IG, Chang-Claude J, Chen K, Cook LS, Cramer DW, deFazio A, Dennis J, Doherty JA, Dörk T, Eccles DM, Edwards DV, Fasching PA, Fortner RT, Gayther SA, Giles GG, Glasspool RM, Goode EL, Goodman MT, Gronwald J, Harris HR, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Kar SP, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Koushik A, Lambrechts D, Le ND, Levine DA, Massuger LF, Matsuo K, May T, McNeish IA, Menon U, Modugno F, Monteiro AN, Moorman PG, Moysich KB, Ness RB, Nevanlinna H, Olsson H, Onland-Moret NC, Park SK, Paul J, Pearce CL, Pejovic T, Phelan CM, Pike MC, Ramus SJ, Riboli E, Rodriguez-Antona C, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Shan K, Siddiqui N, Sieh W, Stampfer MJ, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Tworoger SS, Tyrer JP, Webb PM, Wentzensen N, White E, Willett WC, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J.
    • Cancer Res. 2019 Feb 1;79(3):505-517. doi: 10.1158/0008-5472.CAN-18-2726. Epub 2018 Dec 17.
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.
    • Møller P, Dominguez-Valentin M, Rødland EA, Hovig E.
    • Cancers (Basel). 2019 Jan 23;11(2). pii: E132. doi: 10.3390/cancers11020132.
    • Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report.
    • Llinás-Quintero N, Cabrera-Florez E, Mendoza-Fandiño G, Matute-Turizo G, Vasquez-Trespalacios EM, Gallón-Villegas LJ.
    • Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
    • Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
    • Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.
    • BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Related:

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Related:

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Somatic mutations in BRCA1&2 in 201 unselected ovarian carcinoma samples - single institution study.
    • Kowalik A, Zalewski K, Kopczyński J, Siołek M, Lech M, Hińcza K, Kalisz J, Chrapek M, Zięba S, Furmańczyk J, Jedliński M, Chłopek M, Misiek M, Góźdź S.
    • Pol J Pathol. 2019;70(2):115-126. doi: 10.5114/pjp.2019.82905.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

    Related:

    Research news:

    Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.

    • Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han JW, Lee JY, Kim S, Kim SW, Kim YT, Nam EJ.
    • Anticancer Res. 2018 Dec;38(12):6947-6953. doi: 10.21873/anticanres.13073.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
    • Koczkowska M, Krawczynska N, Stukan M, Kuzniacka A, Brozek I, Sniadecki M, Debniak J, Wydra D, Biernat W, Kozlowski P, Limon J, Wasag B, Ratajska M.
    • Cancers (Basel). 2018 Nov 14;10(11). pii: E442. doi: 10.3390/cancers10110442.
    • BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
    • Marchetti C, De Leo R, Musella A, D'Indinosante M, Capoluongo E, Minucci A, Benedetti Panici P, Scambia G, Fagotti A.
    • Ann Surg Oncol. 2018 Nov;25(12):3701-3708. doi: 10.1245/s10434-018-6700-6. Epub 2018 Aug 20.

    Related:

    Commentary:

    ASO Author Reflections: BRCA Mutation Status for Personalizing Management of Recurrent Ovarian Cancer-A Multicenter Study.

    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
    • Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • Survival of Women With Type I and II Epithelial Ovarian Cancer Detected by Ultrasound Screening.
    • van Nagell JR Jr, Burgess BT, Miller RW, Baldwin L, DeSimone CP, Ueland FR, Huang B, Chen Q, Kryscio RJ, Pavlik EJ.
    • Obstet Gynecol. 2018 Nov;132(5):1091-1100. doi: 10.1097/AOG.0000000000002921.

    Related:

    Editorial, Research news:

    Ultrasound Screening for Ovarian Cancer: Are We There Yet?

    • GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
    • Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D; GEMO Study Collaborators.
    • Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • Familial risks of second primary cancers and mortality in ovarian cancer patients.
    • Zheng G, Chattopadhyay S, Försti A, Sundquist K, Hemminki K.
    • Clin Epidemiol. 2018 Oct 11;10:1457-1466. doi: 10.2147/CLEP.S174173. eCollection 2018.
    • Familial risks of ovarian cancer by age at diagnosis, proband type and histology.
    • Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K.
    • PLoS One. 2018 Oct 3;13(10):e0205000. doi: 10.1371/journal.pone.0205000. eCollection 2018.
    • Comparison of gynecologic cancer risk factors, incidence and mortality trends between South Korea and Israel, 1999-2013.
    • Michaan N, Park SY, Won YJ, Lim MC.
    • Jpn J Clin Oncol. 2018 Oct 1;48(10):884-891. doi: 10.1093/jjco/hyy111.
    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
    • Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, Yang L, Jiao Z, Luo J, Zi Y, Sun G, Zhang J, Shi Y, Liu J.
    • Gynecol Oncol. 2018 Oct;151(1):145-152. doi: 10.1016/j.ygyno.2018.07.024. Epub 2018 Aug 2.
    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
    • Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, Moreno García O, García Esquivel L, Torres Mejía G, Dean M, Delgado Enciso I, Ochoa Díaz López H, Rodríguez León F, Jan V, Garzón Barrientos VH, Ruiz Flores P, Espino Silva PK, Haro Santa Cruz J, Martínez Gregorio H, Rojas Jiménez EA, Romero Cruz LE, Méndez Catalá CF, Álvarez Gómez RM, Fragoso Ontiveros V, Herrera LA, Romieu I, Terrazas LI, Chirino YI, Frecha C, Oliver J, Perdomo S, Vaca Paniagua F.
    • Cancers (Basel). 2018 Sep 27;10(10). pii: E361. doi: 10.3390/cancers10100361.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

    Related:

    Research news: Can population-based DNA sequencing identify those at risk for hereditary cancers? (FORCE. XRAYS.)

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
    • Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.
    • BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
    • Yizhen N, Kemin L, Qingli L, Danqing W, Rutie Y, Liang S.
    • Medicine (Baltimore). 2018 Sep;97(38):e12371. doi: 10.1097/MD.0000000000012371.
    • Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management.
    • da Cunha Colombo Bonadio RR, Fogace RN, Miranda VC, Diz MDPE.
    • Clinics (Sao Paulo). 2018 Aug 20;73(suppl 1):e450s. doi: 10.6061/clinics/2018/e450s.
    • Second primary cancer after primary peritoneal, epithelial ovarian, and fallopian tubal cancer: a retrospective study.
    • Lim MC, Won YJ, Lim J, Salehi T, Yoo CW, Bristow RE.
    • BMC Cancer. 2018 Aug 8;18(1):800. doi: 10.1186/s12885-018-4700-3.
    • Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status.
    • Antwi SO, Fagan SE, Chaffee KG, Bamlet WR, Hu C, Polley EC, Hart SN, Shimelis H, Lilyquist J, Gnanaolivu RD, McWilliams RR, Oberg AL, Couch FJ, Petersen GM.
    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

    Related:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
    • Long J, Evans TG, Bailey D, Lewis MH, Gower-Thomas K, Murray A.
    • Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
    • Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation.
    • Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA; Hereditary Ovarian Cancer Clinical Study Group.
    • Gynecol Oncol. 2018 Jul;150(1):85-91. doi: 10.1016/j.ygyno.2018.05.011. Epub 2018 May 21.
    • Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
    • Pajares B, Porta J, Porta JM, Sousa CF, Moreno I, Porta D, Durán G, Vega T, Ortiz I, Muriel C, Alba E, Márquez A.
    • BMC Cancer. 2018 Jun 8;18(1):647. doi: 10.1186/s12885-018-4537-9.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    • The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
    • Teixeira N, van der Hout A, Oosterwijk JC, Vos JR; HEBON, Devilee P, van Engelen K, Meijers-Heijboer H, van der Luijt RB, Kriege M, Mensenkamp AR, Rookus MA, van Roozendaal KE, Mourits MJE, de Bock GH.
    • Eur J Hum Genet. 2018 Jun;26(6):848-857. doi: 10.1038/s41431-018-0111-9. Epub 2018 Feb 26.
    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
    • Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H3, King MC.
    • Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.
    • Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
    • Augustinsson A, Ellberg C, Kristoffersson U, Borg Å, Olsson H.
    • Acta Oncol. 2018 May;57(5):595-603. doi: 10.1080/0284186X.2017.1404635. Epub 2017 Nov 22.
    • Clinical study of hereditary ovarian cancer syndrome in Shandong province, East China.
    • Sheng X, Zhong Y, Lu C, Peng J, Yu H, Guo J.
    • Int J Gynaecol Obstet. 2018 May;141(2):234-239. doi: 10.1002/ijgo.12447. Epub 2018 Feb 14.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • BRCAmut and "founder effect": a prospective study in a single academic institution.
    • Loizzi V, Cicinelli E, Santamaria F, Murgia F, Minicucci V, Resta L, Resta N, Natalicchio MI, Ranieri G, Cormio G.
    • Oncotarget. 2018 Apr 27;9(32):22353-22358. doi: 10.18632/oncotarget.24959. eCollection 2018 Apr 27.
    • Role of tumor microenvironment in ovarian cancer pathobiology.
    • Ghoneum A, Afify H, Salih Z, Kelly M, Said N.
    • Oncotarget. 2018 Apr 27;9(32):22832-22849. doi: 10.18632/oncotarget.25126. eCollection 2018 Apr 27.
    • Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
    • Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E.
    • Hum Genome Var. 2018 Apr 20;5:2. doi: 10.1038/s41439-018-0003-0. eCollection 2018.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
    • Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
    • Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3.
    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    • Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
    • Breast Cancer Res Treat. 2018 Apr;168(3):695-702. doi: 10.1007/s10549-017-4635-4. Epub 2018 Jan 2.
    • Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
    • Krivokuca A, Dragos VS, Stamatovic L, Blatnik A, Boljevic I, Stegel V, Rakobradovic J, Skerl P, Jovandic S, Krajc M, Magic MB, Novakovic S.
    • Fam Cancer. 2018 Apr;17(2):179-185. doi: 10.1007/s10689-017-0022-x.
    • Characteristics and outcome of the COEUR Canadian validation cohort for ovarian cancer biomarkers.
    • Le Page C, Rahimi K, Köbel M, Tonin PN, Meunier L, Portelance L, Bernard M, Nelson BH, Bernardini MQ, Bartlett JMS, Bachvarov D, Gotlieb WH, Gilks B, McAlpine JN, Nachtigal MW, Piché A, Watson PH, Vanderhyden B, Huntsman DG, Provencher DM, Mes-Masson AM.
    • BMC Cancer. 2018 Mar 27;18(1):347. doi: 10.1186/s12885-018-4242-8.
    • Short report: Follow-up of Bahamian women with a BRCA1 or BRCA2 mutation.
    • Narod SA, Butler R, Bobrowski D, Akbari MR, Curling D, Lunn J, Ho C, Panahi S, Llacuachaqui M, Donenberg T, Hurley J.
    • Mol Genet Genomic Med. 2018 Mar;6(2):301-304. doi: 10.1002/mgg3.363. Epub 2017 Dec 20.
    • A19 Frequency of BRCA1 and BRCA2 founder mutations among ovarian cancer patients from Podkarpackie Voivodeship.
    • Kluz T, Jasiewicz A, Gronwald J.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A19. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland.
    • Kluz T, Jasiewicz A, Marczyk E, Jach R, Jakubowska A, Lubiński J, Narod SA, Gronwald J.
    • Hered Cancer Clin Pract. 2018 Feb 27;16:6. doi: 10.1186/s13053-018-0089-x. eCollection 2018.
    • Could ALDH2*2 be the reason for low incidence and mortality of ovarian cancer for East Asia women?
    • Yan S, Wu G.
    • Oncotarget. 2017 Dec 22;9(15):12503-12512. doi: 10.18632/oncotarget.23605. eCollection 2018 Feb 23.
    • Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.
    • Park JS, Lee ST, Han JW, Kim TI, Nam EJ, Park HS.
    • Clin Breast Cancer. 2018 Feb 20. pii: S1526-8209(17)30785-1. doi: 10.1016/j.clbc.2018.02.007. [Epub ahead of print]
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.
    • Zhang L, Shin VY, Chai X, Zhang A, Chan TL, Ma ES, Rebbeck TR, Chen J, Kwong A.
    • Oncotarget. 2018 Feb 2;9(38):25025-25033. doi: 10.18632/oncotarget.24382. eCollection 2018 May 18.
    • Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
    • Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M.
    • Cancer Sci. 2018 Feb;109(2):453-461. doi: 10.1111/cas.13464. Epub 2018 Jan 17.
    • Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma.
    • Bernards SS, Pennington KP, Harrell MI, Agnew KJ, Garcia RL, Norquist BM, Swisher EM.
    • Gynecol Oncol. 2018 Feb;148(2):281-285. doi: 10.1016/j.ygyno.2017.12.004. Epub 2017 Dec 9.
    • Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.
    • Kwong A, Ho JCW, Shin VY, Kurian AW, Tai E, Esserman LJ, Weitzel JN, Lin PH, Field M, Domchek SM, Lo J, Ngan HYS, Ma ESK, Chan TL, Ford JM.
    • Oncotarget. 2017 Dec 20;9(8):7832-7843. doi: 10.18632/oncotarget.23471. eCollection 2018 Jan 30.
    • Gene aberration profile of tumors of adolescent and young adult females.
    • Kanke Y, Shimomura A, Saito M, Honda T, Shiraishi K, Shimada Y, Watanabe R, Yoshida H, Yoshida M, Shimizu C, Takahashi K, Totsuka H, Ogiwara H, Hirose S, Kono K, Tamura K, Okamoto A, Kinoshita T, Kato T, Kohno T.
    • Oncotarget. 2017 Dec 29;9(5):6228-6237. doi: 10.18632/oncotarget.23765. eCollection 2018 Jan 19.
    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    • Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
    • Breast Cancer Res Treat. 2018 Jan 2. doi: 10.1007/s10549-017-4635-4. [Epub ahead of print]
    • A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.
    • Gieldon L, Wagner J, Rump A.
    • Breast Cancer Res Treat. 2018 Jan;167(1):305-307. doi: 10.1007/s10549-017-4500-5. Epub 2017 Sep 12.
    • Letter, Case report
    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
    • Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR.
    • Fam Cancer. 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z.
    • Survival Benefit of Germline BRCA Mutation is Associated with Residual Disease in Ovarian Cancer.
    • Shi T, Wang P, Tang W, Jiang R, Yin S, Shi D, Wang Q, Wei Q, Zang R.
    • Cell Physiol Biochem. 2018;47(5):2088-2096. doi: 10.1159/000491477. Epub 2018 Jul 5.
    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
    • Hirasawa A, Imoto I, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D.
    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • Combined Annotation Dependent Depletion (CADD) Score for BRCA1/2 variants in patients with Breast and/or Ovarian Cancer.
    • Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M.
    • Cancer Sci. 2017 Dec 7. doi: 10.1111/cas.13464. [Epub ahead of print]
    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Related:

    Audio Interview: Breast Cancer Due to Non–BRCA1 and Non–BRCA2 Mutations in Ashkenazi Jewish Women. (The JAMA Network)

    Letter:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    Research review, Commentary: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer? (FORCE. XRAYS. 2018 Jun 7.)

    • Cells of origin of ovarian cancer: ovarian surface epithelium or fallopian tube?
    • Klotz DM, Wimberger P.
    • Arch Gynecol Obstet. 2017 Dec;296(6):1055-1062. doi: 10.1007/s00404-017-4529-z. Epub 2017 Sep 23.
    • Review
    • Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
    • Jones MR, Kamara D, Karlan BY, Pharoah PDP, Gayther SA.
    • Gynecol Oncol. 2017 Dec;147(3):705-713. doi: 10.1016/j.ygyno.2017.10.001. Epub 2017 Oct 18.
    • Review
    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Dec;70:14-26. doi: 10.1016/j.humpath.2017.06.018. Epub 2017 Jul 12
    • Evaluation of Transvaginal Ultrasound plus CA-125 Measurement and Prophylactic Salpingo-Oophorectomy in Women at Different Risk Levels of Ovarian Cancer: The Modena Study Group Cohort Study.
    • Cortesi L, De Matteis E, Toss A, Marchi I, Medici V, Contu G, Xholli A, Grandi G, Cagnacci A, Federico M.
    • Oncology. [2017 Dec;]93(6):377-386. doi: 10.1159/000479155. Epub 2017 Aug 26.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Introduction. Risk Factors for Ovarian Cancer.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Dermatomyositis - key to diagnosing ovarian cancer, monitoring treatment and detecting recurrent disease: Case report.
    • Field C, Goff BA.
    • Gynecol Oncol Rep. 2017 Nov 28;23:1-3. doi: 10.1016/j.gore.2017.11.009. eCollection 2018 Feb.
    • BRCA mutations in the manifestation and treatment of ovarian cancer.
    • Pan Z, Xie X.
    • Oncotarget. 2017 May 30;8(57):97657-97670. doi: 10.18632/oncotarget.18280. eCollection 2017 Nov 14.
    • Who are the long-term survivors of high grade serous ovarian cancer?
    • Hoppenot C, Eckert MA, Tienda SM, Lengyel E.
    • Gynecol Oncol. 2017 Nov 8. pii: S0090-8258(17)31454-3. doi: 10.1016/j.ygyno.2017.10.032. [Epub ahead of print]
    • Review
    • Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.
    • Dagan E, Gershoni-Baruch R, Kurolap A, Fried G.
    • Eur J Cancer Care (Engl). 2017 Nov;26(6). doi: 10.1111/ecc.12594. Epub 2016 Oct 10.
    • BRCA and lynch syndrome-associated ovarian cancers behave differently.
    • Ryan NAJ, Bolton J, McVey RJ, Evans DG, Crosbie EJ.
    • Gynecol Oncol Rep. 2017 Nov 22;22:108-109. doi: 10.1016/j.gore.2017.11.007. eCollection 2017 Nov.

    Related:

    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

    Related:

    Letter: Ovarian carcinoma histotype in Lynch syndrome. (Gynecologic Oncology Reports)

    • High grade serous ovarian carcinomas originate in the fallopian tube.
    • Labidi-Galy SI, Papp E, Hallberg D, Niknafs N, Adleff V, Noe M, Bhattacharya R, Novak M, Jones S, Phallen J, Hruban CA, Hirsch MS, Lin DI, Schwartz L, Maire CL, Tille JC, Bowden M, Ayhan A, Wood LD, Scharpf RB, Kurman R, Wang TL, Shih IM, Karchin R, Drapkin R, Velculescu VE.
    • Nat Commun. 2017 Oct 23;8(1):1093. doi: 10.1038/s41467-017-00962-1.
    • Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
    • Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M, Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R.
    • PLoS One. 2017 Oct 20;12(10):e0186043. doi: 10.1371/journal.pone.0186043. eCollection 2017.
    • BRCA1/BRCA2 mutations in a Mediterranean population (Apulia Region) with breast or ovarian cancer: a single center experience.
    • Caloro M, Orlando L, Lutrino ES, Quaranta A, Caliolo C, Schiavone P, Aprile G, Chetrì MC, D'Amico M, Rizzo P, Fedele P, Loparco D, Mazzoni E, Marino A, Calvani N, Sponziello F, Nacci A, Cinefra M, Ferrara P, Cinieri S.
    • Ann Oncol. 2017 Oct;28 Suppl 6:vi32. doi: 10.1093/annonc/mdx424.025.
    • Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.
    • Gorodetska I, Serga S, Lahuta T, Ostapchenko L, Demydov S, Khranovska N, Skachkova O, Inomistova M, Kolesnik O, Svintsitsky V, Tsip N, Peresunko A, Kmit' N, Manzhura O, Rossokha Z, Popova O, Salomakhina H, Kyriachenko S, Kozeretska I.
    • Fam Cancer. 2017 Oct;16(4):471-476. doi: 10.1007/s10689-017-9978-9.
    • Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Marín Vera M, Sánchez Bermúdez AI, Macías Cerrolaza JA, Sánchez Henarejos P, Zafra Poves M, García Hernández MR, Cuevas Tortosa E, Aliaga Baño Á, Castillo Guardiola V, Martínez Hernández P, Tovar Zapata I, Martínez Barba E, Ayala de la Peña F, Alonso Romero JL, Noguera Velasco JA, Ruiz Espejo F.
    • Fam Cancer. 2017 Oct;16(4):477-489. doi: 10.1007/s10689-017-9985-x.
    • Sequential molecular changes and dynamic oxidative stress in high-grade serous ovarian carcinogenesis.
    • Kobayashi H, Ogawa K, Kawahara N, Iwai K, Niiro E, Morioka S, Yamada Y.
    • Free Radic Res. 2017 Oct;51(9-10):755-764. doi: 10.1080/10715762.2017.1383605. Epub 2017 Oct 11.
    • The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients.
    • Wu X, Wu L, Kong B, Liu J, Yin R, Wen H, Li N, Bu H, Feng Y, Li Q, Lu X, Wei J, Zhu X, Mills J, Ellison G, Gutjahr T, Liu Y.
    • Int J Gynecol Cancer. 2017 Oct;27(8):1650-1657. doi: 10.1097/IGC.0000000000001065.
    • Genetic Versus Epigenetic BRCA1 Silencing Pathways: Clinical Effects in Primary Ovarian Cancer Patients: A Study of the Tumor Bank Ovarian Cancer Consortium.
    • Sun T, Ruscito I, Dimitrova D, Chekerov R, Kulbe H, Baron U, Blanchard V, Panici PB, Darb-Esfahani S, Sehouli J, Olek S, Braicu EI.
    • Int J Gynecol Cancer. 2017 Oct;27(8):1658-1665. doi: 10.1097/IGC.0000000000001071.
    • The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
    • Sung PL, Wen KC, Chen YJ, Chao TC, Tsai YF, Tseng LM, Qiu JT, Chao KC, Wu HH, Chuang CM, Wang PH, Huang CF.
    • PLoS One. 2017 Sep 29;12(9):e0185615. doi: 10.1371/journal.pone.0185615. eCollection 2017.
    • Elevated Serum Level of CA125 Is a Biomarker That Can Be Used to Alter Prognosis Determined by BRCA Mutation and Family History in Ovarian Cancer.
    • Liu W, Wang Z, Ma J, Hou Y, Zhao J, Dong B, Tu S, Wang L, Guo Y.
    • Genet Test Mol Biomarkers. 2017 Sep;21(9):547-554. doi: 10.1089/gtmb.2017.0104. Epub 2017 Aug 11.
    • A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer.
    • Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES.
    • J Breast Cancer. 2017 Sep;20(3):310-313. doi: 10.4048/jbc.2017.20.3.310. Epub 2017 Sep 22.
    • Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates.
    • Helpman L, Zidan O, Friedman E, Kalfon S, Perri T, Ben-Baruch G, Korach J.
    • J Gynecol Oncol. 2017 Sep;28(5):e61. doi: 10.3802/jgo.2017.28.e61. Epub 2017 Jun 5.
    • BRCA1-mutated ovarian cancer with skin metastasis: a case report.
    • Oh SR, Park JW, Kwon HY, Rha SH.
    • Obstet Gynecol Sci. 2017 Sep;60(5):477-480. doi: 10.5468/ogs.2017.60.5.477. Epub 2017 Sep 18.
    • Breast Cancer Survival of BRCA1/BRCA2 Mutation Carriers in a Hospital-Based Cohort of Young Women.
    • Schmidt MK, van den Broek AJ, Tollenaar RA, Smit VT, Westenend PJ, Brinkhuis M, Oosterhuis WJ, Wesseling J, Janssen-Heijnen ML, Jobsen JJ, Jager A, Voogd AC, van Leeuwen FE, van 't Veer LJ.
    • J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djw329.
    • Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
    • Tedaldi G, Tebaldi M, Zampiga V, Danesi R, Arcangeli V, Ravegnani M, Cangini I, Pirini F, Petracci E, Rocca A, Falcini F, Amadori D, Calistri D.
    • Oncotarget. 2017 Jul 18;8(29):47064-47075. doi: 10.18632/oncotarget.16791.
    • Pathologic Findings in Breast, Fallopian Tube and Ovary Specimens in non-BRCA Hereditary Breast and/or Ovarian Cancer Syndromes: A Study of 18 Patients with Deleterious Germline Mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
    • Hum Pathol. 2017 Jul 11. pii: S0046-8177(17)30240-X. doi: 10.1016/j.humpath.2017.06.018. [Epub ahead of print]
    • Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, Domchek SM, Robson M, Spurdle AB, Ramus SJ, Mavaddat N, Terry MB, Neuhausen SL, Schmutzler RK, Simard J, Pharoah PD, Offit K, Couch FJ, Chenevix-Trench G, Easton DF, Antoniou AC.
    • J Natl Cancer Inst. 2017 Jul 1;109(7). doi: 10.1093/jnci/djw302.
    • Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women.
    • Kurian AW, Hughes E, Handorf EA, Gutin A, Allen B, Hartman AR, Hall MJ.
    • JCO Precis Oncol. 2017 Nov [Epub 2017 Jun 27];1:1-12. doi: 10.1200/PO.16.00066.
    • [Association between single nucleotide polymorphism of BARD1 gene and BRCA1 gene mutation in epithelial ovarian cancer].
    • Liu WL, Zhao JZ, Wang ZZ, Dong B, Hou YY, Wu XX, Guo YJ.
    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jun 25;52(6):403-410. doi: 10.3760/cma.j.issn.0529-567X.2017.06.009.
    • English Abstract, [Article in Chinese]
    • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; and the BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H./li>
    • JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.

    Related:

    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

    • Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
    • Ryu JM, Kang G, Nam SJ, Kim SW, Yu J, Lee SK, Bae SY, Park S, Paik HJ, Kim JW, Park SS, Lee JE, Kim SW.
    • Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.
    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
    • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, Ryan L, Gil E, van 't Veer L.
    • Breast Cancer Res Treat. 2017 Jun;163(2):383-390. doi: 10.1007/s10549-017-4181-0. Epub 2017 Mar 9.
    • Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer.
    • Hollis RL, Churchman M, Gourley C.
    • Onco Targets Ther. 2017 May 11;10:2539-2551. doi: 10.2147/OTT.S102569. eCollection 2017.
    • Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
    • Park B, Sohn JY, Yoon KA, Lee KS, Cho EH, Lim MC, Yang MJ, Park SJ, Lee MH, Lee SY, Chang YJ, Lee DO, Kong SY, Lee ES.
    • Breast Cancer Res Treat. 2017 May;163(1):139-150. doi: 10.1007/s10549-017-4142-7. Epub 2017 Feb 15.
    • Ovarian carcinoma histotype in Lynch syndrome.
    • Gilks CB, Clarke BA, Foulkes WD.
    • Gynecol Oncol Rep. 2017 Mar 16;20:140-141. doi: 10.1016/j.gore.2017.03.009. eCollection 2017 May.

    Related:

    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

    • High-risk epithelial ovarian cancer patients for hereditary ovarian cancer.
    • Chirasophon S, Manchana T, Teerapakpinyo C.
    • J Obstet Gynaecol Res. 2017 May;43(5):929-934. doi: 10.1111/jog.13287. Epub 2017 Feb 11.
    • Examining the common aetiology of serous ovarian cancers and basal-like breast cancers using double primaries.
    • Begg CB, Rice MS, Zabor EC, Tworoger SS.
    • Br J Cancer. 2017 Apr 11;116(8):1088-1091. doi: 10.1038/bjc.2017.73. Epub 2017 Mar 23.
    • BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
    • Zuntini R, Cortesi L, Calistri D, Pippucci T, Luigi Martelli P, Casadio R, Capizzi E, Santini D, Miccoli S, Medici V, Danesi R, Marchi I, Zampiga V, Fiorentino M, Ferrari S, Turchetti D.
    • Oncotarget. 2017 Apr 4;8(14):22640-22648. doi: 10.18632/oncotarget.15151.
    • Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han J, Lee JY, Kim SW, Kim S, Kim YT, Nam EJ.
    • Cancer Res Treat. 2017 Apr;49(2):408-415. doi: 10.4143/crt.2016.135. Epub 2016 Jul 27.
    • A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene.
    • Sirisena ND, Gautam B, Dissanayake ND, Dissanayake VH.
    • Ceylon Med J. 2017 Mar 31;62(1):65-66. doi: 10.4038/cmj.v62i1.8437.
    • Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.
    • Ryan NA, Evans DG, Green K, Crosbie EJ.
    • Gynecol Oncol. 2017 Mar;144(3):491-495. doi: 10.1016/j.ygyno.2017.01.005. Epub 2017 Jan 6.

    Related:

    Letter: Ovarian carcinoma histotype in Lynch syndrome. (Gynecologic Oncology Reports)

    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

    • Pathogenesis and heterogeneity of ovarian cancer.
    • Kroeger PT Jr, Drapkin R.
    • Curr Opin Obstet Gynecol. 2017 Feb;29(1):26-34. doi: 10.1097/GCO.0000000000000340.
    • [Clinical-based study of ovarian cancer patients with and without BRCA1/2 genes mutation: clinical features and pedigree analysis].
    • Tao T, Yang JX, Shen K, Cao DY.
    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jan 25;52(1):20-25. doi: 10.3760/cma.j.issn.0529-567X.2017.01.006.
    • Article in Chinese; English Abstract
    • [Clinical significance and distribution of BRCA genes mutation in sporadic high grade serous ovarian cancer].
    • Liu WL, Wang ZZ, Zhao JZ, Hou YY, Wu XX, Li W, Dong B, Tong TT, Guo YJ.
    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jan 25;52(1):26-31. doi: 10.3760/cma.j.issn.0529-567X.2017.01.007.
    • Article in Chinese; English Abstract
    • Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers.
    • Lee YJ, Lee SW, Kim KR, Jung KH, Lee JW, Kim YM.
    • J Gynecol Oncol. 2017 Jan;28(1):e3. doi: 10.3802/jgo.2017.28.e3. Epub 2016 Aug 8.
    • HE4 Serum Levels in Patients with BRCA1 Gene Mutation Undergoing Prophylactic Surgery as well as in Other Benign and Malignant Gynecological Diseases.
    • Chudecka-Głaz A, Cymbaluk-Płoska A, Strojna A, Menkiszak J.
    • Dis Markers. 2017;2017:9792756. doi: 10.1155/2017/9792756. Epub 2017 Jan 15.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • Young premenopausal women with breast cancer, especially estrogen receptor negative, are at significantly increased risk for subsequent ovarian cancer.
    • Lehrer S, Rheinstein PH, Green S, Rosenzweig KE.
    • Discov Med. 2016 Oct;22(121):209-213.
    • Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis.
    • Sabatier R, Lavit E, Moretta J, Lambaudie E, Noguchi T, Eisinger F, Cherau E, Provansal M, Livon D, Rabayrol L, Popovici C, Charaffe-Jauffret E, Sobol H, Viens P.
    • Fam Cancer. 2016 Oct;15(4):497-506. doi: 10.1007/s10689-016-9873-9.
    • RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
    • Arbustini E, Sgarella A, Ferrari A, Grasso D, Cassani C, Lucioni M, Di Giulio G, Grasso M.
    • J Natl Cancer Inst. 2016 Aug 31;108(12). pii: djw172. doi: 10.1093/jnci/djw172. Print 2016 Dec.
    • Letter

    Related:

    Letter, Reply

    Response.

    • Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.
    • Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, KaramiNejadRanjbar M, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, Dhar S, Zhang RY, Campo L, Myers KA, Lozano M, Ruiz-Miró M, Gatius S, Mota A, Moreno-Bueno G, Matias-Guiu X, Benítez J, Witty L, McVean G, Leedham S, Tomlinson I, Drmanac R, Cazier JB, Klein R, Dunne K, Bast RC Jr, Kennedy SH, Hassan B, Lise S, Garcia MJ, Peters BA, Yau C, Sauka-Spengler T, Ahmed AA.
    • EBioMedicine. 2016 Aug;10:137-49. doi: 10.1016/j.ebiom.2016.06.048. Epub 2016 Jul 2.
    • Müllerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery.
    • Casey MJ, Colanta AB.
    • Fam Cancer. 2016 Jul;15(3):371-84. doi: 10.1007/s10689-016-9878-4.
    • Review
    • Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
    • Streff H, Profato J, Ye Y, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK.
    • Oncologist. 2016 Jul;21(7):869-74. doi: 10.1634/theoncologist.2015-0354. Epub 2016 Jun 15.
    • Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes.
    • Nakonechny QB, Gilks CB.
    • Surg Pathol Clin. 2016 Jun;9(2):189-99. doi: 10.1016/j.path.2016.01.003. Epub 2016 Apr 11.
    • Review
    • Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival.
    • Biglia N, Sgandurra P, Bounous VE, Maggiorotto F, Piva E, Pivetta E, Ponzone R, Pasini B.
    • Ecancermedicalscience. 2016 May 3;10:639. doi: 10.3332/ecancer.2016.639. eCollection 2016.
    • Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population.
    • Vos JR, Mourits MJ, Teixeira N, Jansen L, Oosterwijk JC, de Bock GH.
    • Gynecol Oncol. 2016 Feb;140(2):289-294. doi: 10.1016/j.ygyno.2015.11.029. Epub 2015 Nov 26.
    • A model for estimating ovarian cancer risk: Application for preventive oophorectomy.
    • Giannakeas V, Sopik V, Shestopaloff K, Iqbal J, Rosen B, Akbari M, Narod SA.
    • Gynecol Oncol. 2015 Nov;139(2):242-247. doi: 10.1016/j.ygyno.2015.08.020. Epub 2015 Sep 2.
    • Identifying post-menopausal women at elevated risk for epithelial ovarian cancer.
    • Urban N, Hawley S, Janes H, Karlan BY, Berg CD, Drescher CW, Manson JE, Palomares MR, Daly MB, Wactawski-Wende J, O'Sullivan MJ, Thorpe J, Robinson RD, Lane D, Li C, Anderson GL.
    • Gynecol Oncol. 2015 Nov;139(2):253-260. doi: 10.1016/j.ygyno.2015.08.024. Epub 2015 Sep 3.
    • Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk.
    • Teixeira N, Mourits MJ, Vos JR, Kolk DM, Jansen L, Oosterwijk JC, Bock GH.
    • Maturitas. 2015 Oct;82(2):197-202. doi: 10.1016/j.maturitas.2015.07.001. Epub 2015 Jul 9.
    • BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-Analysis With 2344 Cases and 9672 Controls.
    • Su L, Wang J, Tao Y, Shao X, Ding Y, Cheng X, Zhu Y.
    • Medicine (Baltimore). 2015 Oct;94(42):e1695. doi: 10.1097/MD.0000000000001695.
    • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.
    • Jervis S, Song H, Lee A, Dicks E, Harrington P, Baynes C, Manchanda R, Easton DF, Jacobs I, Pharoah PP, Antoniou AC.
    • J Med Genet. 2015 Jul;52(7):465-75. doi: 10.1136/jmedgenet-2015-103077. Epub 2015 May 29.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: ovarian cancer risk based on family history

    • Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.
    • Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B.
    • J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1.
    • Population Distribution of Lifetime Risk of Ovarian Cancer in the United States.
    • Pearce CL, Stram DO, Ness RB, Stram DA, Roman LD, Templeman C, Lee AW, Menon U, Fasching PA, McAlpine JN, Doherty JA, Modugno F, Schildkraut JM, Rossing MA, Huntsman DG, Wu AH, Berchuck A, Pike MC, Pharoah PD.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):671-6. doi: 10.1158/1055-9965.EPI-14-1128. Epub 2015 Jan 26.
    • Hypodontia phenotype in patients with epithelial ovarian cancer.
    • Fekonja A, Cretnik A, Zerdoner D, Takac I.
    • Radiol Oncol. 2015 Mar 3;49(1):65-70. doi: 10.2478/raon-2014-0034. eCollection 2015.
    • Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort.
    • Ellberg C, Jernström H, Broberg P, Borg Å, Olsson H.
    • Genes Chromosomes Cancer. 2015 Jan;54(1):39-50. doi: 10.1002/gcc.22217. Epub 2014 Sep 23.
    • Precursors of ovarian cancer in the fallopian tube: serous tubal intraepithelial carcinoma--an update.
    • Zeppernick F, Meinhold-Heerlein I, Shih IeM.
    • J Obstet Gynaecol Res. 2015 Jan;41(1):6-11. doi: 10.1111/jog.12550. Epub 2014 Oct 20.
    • Natural history of ovarian cancer.
    • Vargas AN.
    • Ecancermedicalscience. 2014 Sep 25;8:465. doi: 10.3332/ecancer.2014.465. eCollection 2014.
    • Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.
    • Friebel TM, Domchek SM, Rebbeck TR.
    • J Natl Cancer Inst. 2014 Jun;106(6):dju091. doi: 10.1093/jnci/dju091.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: chemoprevetion for ovarian cancer

    News: Study Identifies Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. (The ASCO Post)

    • THE BRCA CANCER GENE AS A USEFUL PREDICTOR FOR DOUBLE PRIMARY BREAST AND OVARIAN CANCER: A META-ANALYSIS.
    • A. Sattaratnamai, G.D. Eslick.
    • Ann Oncol (2014 May) 25 (suppl 1): i5-i6. doi: 10.1093/annonc/mdu065.6. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract, Meta-Analysis, Review
    • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
    • Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J.
    • PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014.
    • Oral contraceptive and reproductive risk factors for ovarian cancer within sisters in the breast cancer family registry.
    • Ferris JS, Daly MB, Buys SS, Genkinger JM, Liao Y, Terry MB.
    • Br J Cancer. 2014 Feb 18;110(4):1074-80. doi: 10.1038/bjc.2013.803. Epub 2014 Jan 7.
    • [Hereditary ovarian carcinomas: clinico-biological features and treatment].
    • Floquet A, Stoeckle E, Croce S, Longy M, Mc Grogan G, Barouk E, Bubien V, Garbay D, Joly E, Guyon F.
    • Bull Cancer. 2014 Feb;101(2):167-74. doi: 10.1684/bdc.2014.1888.
    • Review, [Article in French]
    • Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
    • Brohet RM, Velthuizen ME, Hogervorst FB, Ej Meijers-Heijboer H, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource.
    • J Med Genet. 2014 Feb;51(2):98-107. doi: 10.1136/jmedgenet-2013-101974. Epub 2013 Nov 27.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 Positive Patients and Oral Contraceptive Usage

    • Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants.
    • Jervis S, Song H, Lee A, Dicks E, Tyrer J, Harrington P, Easton DF, Jacobs IJ, Pharoah PP, Antoniou AC.
    • J Med Genet. 2014 Feb;51(2):108-13. doi: 10.1136/jmedgenet-2013-102015. Epub 2013 Nov 25.
    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
    • De Mattos-Arruda L, Bidard FC, Won HH, Cortes J, Ng CK, Peg V, Nuciforo P, Jungbluth AA, Weigelt B, Berger MF, Seoane J, Reis-Filho JS.
    • Mol Oncol. 2014 Feb;8(1):150-8. doi: 10.1016/j.molonc.2013.10.006. Epub 2013 Oct 31.
    • BRCA and Early Events in the Development of Serous Ovarian Cancer.
    • George SH, Shaw P.
    • Front Oncol. 2014 Jan 23;4:5. doi: 10.3389/fonc.2014.00005. eCollection 2014.
    • Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
    • Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P.
    • Fam Cancer. 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x.
    • Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
    • de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta A, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.
    • Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.
    • The sex hormone system in carriers of BRCA1/2 mutations: a case-control study.
    • Widschwendter M, Rosenthal AN, Philpott S, Rizzuto I, Fraser L, Hayward J, Intermaggio MP, Edlund CK, Ramus SJ, Gayther SA, Dubeau L, Fourkala EO, Zaikin A, Menon U, Jacobs IJ.
    • Lancet Oncol. 2013 Nov;14(12):1226-32. doi: 10.1016/S1470-2045(13)70448-0. Epub 2013 Oct 17.

    Related:

    Letter, Comment:

    Untangling BRCA mutations, sex hormones, and cancer risk.

    Press: Female hormones key to breast and ovarian cancer in BRCA gene carriers. (Medical Xpress)

    • [Multiple primary malignancies in BRCA1 mutation carriers--two clinical cases].
    • Badora A, Kaleta B, Nowara E, Sikora-Jopek M, Budryk M, Smok-Ragankiewicz A.
    • Ginekol Pol. 2013 Oct;84(10):892-6.
    • Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
    • Arts-de Jong M, Manders CM, Hoogerbrugge N, Ligtenberg MJ, Massuger LF, de Hullu JA, Spruijt L.
    • Int J Gynecol Cancer. 2013 Oct;23(8):1406-10. doi: 10.1097/IGC.0b013e3182a1cf71.
    • [Characteristics of selected clinical features in BRCA1 mutation carriers affected with breast cancer undergoing preventive female genital tract surgeries].
    • Menkiszak J, Chudecka-Głaz A, Gronwald J, Bedner R, Cymbaluk-Płoska A, Wezowska M, Zielińska D, Rzepka-Górska I.
    • Ginekol Pol. 2013 Sep;84(9):758-64.
    • BRCA1 gene mutation in thymic malignant melanoma.
    • Yi EJ, Park JH, Lee HW, Cho SY, Na II, Kang MC.
    • Ann Thorac Surg. 2013 Aug;96(2):677-80. doi: 10.1016/j.athoracsur.2012.12.017.
    • Risk Prediction for Breast, Endometrial, and Ovarian Cancer in White Women Aged 50 y or Older: Derivation and Validation from Population-Based Cohort Studies.
    • Pfeiffer RM, Park Y, Kreimer AR, Lacey JV Jr, Pee D, Greenlee RT, Buys SS, Hollenbeck A, Rosner B, Gail MH, Hartge P.
    • PLoS Med. 2013 Jul;10(7):e1001492. doi: 10.1371/journal.pmed.1001492. Epub 2013 Jul 30.

    Related:

    Comment:

    Evaluation of prediction models for decision-making: beyond calibration and discrimination.

    Research News: Risk prediction. (Nature Reviews Cancer)

    • Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
    • Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE.
    • J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA risks by age

    Subject: Counseling against RRM in a 60 year old with BRCA2 mutation?

    Press: Cancer Risks for BRCA1 and BRCA2 Mutation Carriers (Medscape)

    • Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2.
    • Ingham SL, Warwick J, Buchan I, Sahin S, O'Hara C, Moran A, Howell A, Evans DG.
    • J Med Genet. 2013 Jun;50(6):368-72. doi: 10.1136/jmedgenet-2013-101607. Epub 2013 Mar 28.

    Related:

    Research News:

    BRCA1/2 negative status predicts no extended risk of invasive ovarian cancer.

    • BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.
    • D'Andrea AD.
    • Cancer Discov. 2013 Apr;3(4):376-8. doi: 10.1158/2159-8290.CD-13-0044.

    Related:

    Case report:

    Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

    • Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
    • Domchek SM1, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA.
    • Cancer Discov. 2013 Apr;3(4):399-405. doi: 10.1158/2159-8290.CD-12-0421. Epub 2012 Dec 26.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 deleterious mutation plus VUS on exon 9

    Commentary

    BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.

    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.
    • Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL, Walsh T, Swisher EM.
    • Gynecol Oncol. 2013 Mar;128(3):483-7. doi: 10.1016/j.ygyno.2012.12.015. Epub 2012 Dec 19.
    • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Investigators K, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.
    • PLoS Genet. 2013 Mar;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.
    • Hereditary gynaecological malignancies: advances in screening and treatment.
    • Folkins AK, Longacre TA.
    • Histopathology. 2013 Jan;62(1):2-30. doi: 10.1111/his.12028.
    • Review
    • Increased incidence of brain metastases in BRCA1-related ovarian cancers.
    • Sekine M, Yoshihara K, Komata D, Haino K, Nishino K, Tanaka K.
    • J Obstet Gynaecol Res. 2013 Jan;39(1):292-6. doi: 10.1111/j.1447-0756.2012.01961.x. Epub 2012 Aug 13.
    • Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer.
    • Liu G, Yang D, Sun Y, Shmulevich I, Xue F, Sood AK, Zhang W.
    • Pharmacogenomics. 2012 Oct;13(13):1523-35. doi: 10.2217/pgs.12.137.

    Related:

    Press: Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer. (Medscape)

    • Solitary brain metastasis in a patient with ovarian cancer with BRCA2 mutation.
    • Root K, Armaghany T.
    • J Clin Oncol. 2012 Sep 1;30(25):e239-40. doi: 10.1200/JCO.2011.41.5919. Epub 2012 Jul 2.
    • Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
    • Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
    • Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
    • Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.
    • This P, de la Rochefordière A, Savignoni A, Falcou MC, Tardivon A, Thibault F, Alran S, Fourchotte V, Fitoussi A, Couturaud B, Dolbeault S, Salmon RJ, Sigal-Zafrani B, Asselain B, Stoppa-Lyonnet D.
    • Fam Cancer. 2012 Sep;11(3):473-82. doi: 10.1007/s10689-012-9539-1.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

    Free article: BRCA1 R1699Q Variant Displaying Ambiguous Functional Abrogation Confers Intermediate Breast and Ovarian Cancer Risk. (Medscape)

    • Increased risks of third primary cancers of non-breast origin among women with bilateral breast cancer.
    • Kwast AB, Liu L, Roukema JA, Voogd AC, Jobsen JJ, Coebergh JW, Soerjomataram I, Siesling S.
    • Br J Cancer. 2012 Jul 24;107(3):549-55. doi: 10.1038/bjc.2012.270. Epub 2012 Jun 19.
    • A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers.
    • Sigal BM, Munoz DF, Kurian AW, Plevritis SK.
    • Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1066-77. doi: 10.1158/1055-9965.EPI-12-0149. Epub 2012 May 3.
    • Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
    • Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
    • Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
    • Anthropometric measures and risk of ovarian cancer among BRCA1 and BRCA2 mutation carriers.
    • McGee J, Kotsopoulos J, Lubinski J, Lynch HT, Rosen B, Tung N, Kim-Sing C, Karlan B, Foulkes WD, Ainsworth P, Ghadirian P, Senter L, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Obesity (Silver Spring). 2012 Jun;20(6):1288-92. doi: 10.1038/oby.2011.394. Epub 2012 Jan 19.
    • [Clinical features and disease course in patients with BRCA1-dependent ovarian cancer].
    • Blecharz P, Szatkowski W, Bodzek M, Łuczyńska E.
    • Ginekol Pol. 2012 May;83(5):353-6.
    • [Article in Polish]
    • Clinicopathologic characteristics and survival in BRCA1- and BRCA2-related adnexal cancer: are they different?
    • Reitsma W, de Bock GH, Oosterwijk JC, ten Hoor KA, Hollema H, Mourits MJ.
    • Int J Gynecol Cancer. 2012 May;22(4):579-85. doi: 10.1097/IGC.0b013e31823d1b5c.
    • The potential for risk stratification in the management of ovarian cancer risk.
    • Pharoah PD.
    • Int J Gynecol Cancer. 2012 May;22 Suppl 1:S16-7. doi: 10.1097/IGC.0b013e318251caaf.
    • Review
    • Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.
    • Martinez-Delgado B, Yanowsky K, Inglada-Perez L, de la Hoya M, Caldes T, Vega A, Blanco A, Martin T, Gonzalez-Sarmiento R, Blasco M, Robledo M, Urioste M, Song H, Pharoah P, Benitez J.
    • J Med Genet. 2012 May;49(5):341-4. Epub 2012 Apr 6.

    Related:

    Free Full Text: Shorter Telomere Length Is Associated With Increased Ovarian Cancer Risk in Both Familial and Sporadic Cases. (Medscape Oncology)

    • BRCA1 and BRCA2 mutations correlate with TP53 abnormalities and presence of immune cell infiltrates in ovarian high-grade serous carcinoma.
    • McAlpine JN, Porter H, Köbel M, Nelson BH, Prentice LM, Kalloger SE, Senz J, Milne K, Ding J, Shah SP, Huntsman DG, Gilks CB.
    • Mod Pathol. 2012 May;25(5):740-50. doi: 10.1038/modpathol.2011.211. Epub 2012 Jan 27.
    • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
    • Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
    • J Clin Oncol. 2012 Apr 20;30(12):1321-8. doi: 10.1200/JCO.2011.37.8133. Epub 2012 Mar 19.
    • Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
    • Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.
    • Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.
    • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.
    • Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.
    • [Clinical aspects of familial ovarian cancer - current status and issues in Japan].
    • Sekine M, Yoshihara K, Tanaka K.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):506-11.
    • [Article in Japanese]
    • Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
    • Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M; many others.
    • Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14.
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers.
    • Barnes DR, Antoniou AC.
    • J Intern Med. 2012 Apr;271(4):331-43. doi: 10.1111/j.1365-2796.2011.02502.x.
    • Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers.
    • Dick MG, Versmold B, Engel C, Meindl A, Arnold N, Varon-Mateeva R, Sutter C, Niederacher D, Deissler H, Preisler-Adams S, Kast K, Schäfer D, Gadzicki D, Heinritz W, Wappenschmidt B, Schmutzler RK.
    • Int J Cancer. 2012 Mar 15;130(6):1314-8. doi: 10.1002/ijc.26134. Epub 2011 May 30.
    • High frequency of allelic loss at the BRCA1 locus in ovarian cancers: clinicopathologic and molecular associations.
    • Rzepecka IK, Szafron L, Stys A, Bujko M, Plisiecka-Halasa J, Madry R, Osuch B, Markowska J, Bidzinski M, Kupryjanczyk J.
    • Cancer Genet. 2012 Mar;205(3):94-100. doi: 10.1016/j.cancergen.2011.12.005.
    • Impact of lifestyle factors on preneoplastic changes in prophylactic oophorectomies of BRCA mutation carriers.
    • Primas H, Kroiss R, Kalteis K, Rappaport C, Muhr D, Primas C, Kubista E, Horvat R, Oefner P, Singer C, Wagner And The Austrian Hereditary Breast And Ovarian Cancer Group T.
    • Eur J Cancer Prev. 2012 Mar;21(2):199-204. doi: 10.1097/CEJ.0b013e32834c9b22.
    • A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier.
    • Ricci S, Shafer A, Nerenstone S, Mandavilli S, Sorosky J.
    • Int J Gynecol Pathol. 2012 Mar;31(2):145-8. doi: 10.1097/PGP.0b013e318227ad58.
    • Case Report
    • Assessment of symptomatic women for early diagnosis of ovarian cancer: results from the prospective DOvE pilot project.
    • Gilbert L, Basso O, Sampalis J, Karp I, Martins C, Feng J, Piedimonte S, Quintal L, Ramanakumar AV, Takefman J, Grigorie MS, Artho G, Krishnamurthy S; for the DOvE Study Group.
    • Lancet Oncol. 2012 Mar;13(3):285-91. doi: 10.1016/S1470-2045(11)70333-3. Epub 2012 Jan 17.
    • Online tool to guide decisions for BRCA1/2 mutation carriers.
    • Kurian AW, Munoz DF, Rust P, Schackmann EA, Smith M, Clarke L, Mills MA, Plevritis SK.
    • J Clin Oncol. 2012 Feb 10;30(5):497-506. doi: 10.1200/JCO.2011.38.6060. Epub 2012 Jan 9.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: An Online BRCA Positive Decision Guidance Tool.

    Comment:

    Are we ready for online tools in decision making for BRCA1/2 mutation carriers?

    Press: Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers? (Journal of Clinical Oncology)

    Press: Online tool helps those with BRCA mutations understand options. (Medical Xpress)

    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers.
    • Bernholtz S, Jakobson-Setton A, Korach J, Ben Baruch G, Laitman Y, Friedman E.
    • Breast Cancer Res Treat. 2012 Feb;131(3):981-5. doi: 10.1007/s10549-011-1807-5. Epub 2011 Oct 9.
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.
    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.