Phenotype of Ovarian Cancer due to non-BRCA1/2 Genes ~ Ovarian Cancer — Risk / Phenotype

List was last updated on Nov 30, 2019 @ 4:21 pm.


    • 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.
    • Preventing Ovarian Cancer in High-risk Women: One Surgery at a Time.
    • Swanson CL, Bakkum-Gamez JN.
    • Clin Obstet Gynecol. 2019 Nov 22. doi: 10.1097/GRF.0000000000000499. [Epub ahead of print]
    • Review
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • 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]
    • A TGF-β associated genetic score to define prognosis and platinum sensitivity in advanced epithelial ovarian cancer.
    • Gagno S, Poletto E, Bartoletti M, Quartuccio L, Romualdi C, Garziera M, Scalone S, Sorio R, Dreussi E, Zanusso C, De Mattia E, Roncato R, Cecchin E, Giorda G, De Vita S, Dal Bo M, Puglisi F, Toffoli G.
    • Gynecol Oncol. 2019 Nov 8. pii: S0090-8258(19)31603-8. doi: 10.1016/j.ygyno.2019.10.019. [Epub ahead of print]
    • Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.
    • Labidi-Galy SI, de La Motte Rouge T, Derbel O, Wolfer A, Kalbacher E, Olivier T, Combes JD, Heimgartner-Hu K, Tredan O, Guevara H, Heudel PE, Reverdy T, Bazan F, Heinzelmann-Schwarz V, Fehr M, de Castelbajac V, Vaflard P, Crivelli L, Bonadona V, Viassolo V, Buisson A, Golmard L, Rodrigues M, Ray-Coquard I.
    • Gynecol Oncol. 2019 Oct 8. pii: S0090-8258(19)31528-8. doi: 10.1016/j.ygyno.2019.09.008. [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.
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • 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
    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
    • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
    • Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]
    • 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.
    • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.
    • Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [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
    • FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer.
    • Lopes JL, Chaudhry S, Lopes GS, Levin NK, Tainsky MA.
    • Cancer Genet. 2019 May 8. pii: S2210-7762(19)30037-7. doi: 10.1016/j.cancergen.2019.04.061. [Epub ahead of print]
    • 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]
    • 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.
    • AB0 Blood Group and Ovarian Cancer Survival.
    • Mandato VD, Torricelli F, Mastrofilippo V, Ciarlini G, Pirillo D, Annunziata G, Casali B, Abrate M, Sala GB, Aguzzoli L.
    • J Cancer. 2019 Apr 25;10(9):1949-1957. doi: 10.7150/jca.29272. eCollection 2019.
    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
    • J Med Genet. 2019 Apr 12. pii: jmedgenet-2018-105930. doi: 10.1136/jmedgenet-2018-105930. [Epub ahead of print]
    • Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
    • Li N, McInerny S, Zethoven M, Cheasley D, Lim BWX, Rowley SM, Devereux L, Grewal N, Ahmadloo S, Byrne D, Lee JEA, Li J, Fox SB, John T, Antill Y, Gorringe KL, James PA, Campbell IG.
    • J Natl Cancer Inst. 2019 Apr 5. pii: djz045. doi: 10.1093/jnci/djz045. [Epub ahead of print]
    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.
    • Letter, Case report
    • 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]
    • Surgery to Reduce Ovarian Cancer Risk — One Step or Two?
    • Harrison P
    • Medscape. Medscape Oncology. 2019 Mar 25.
    • 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.
    • Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
    • Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.
    • J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]
    • Case report
    • 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 Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
    • Alyahri N, Abdi S, Khan W, Elrobh M, Addar MH, Babay ZA, Alanazi M, Aldaihan S, Shaik J, Arafah M, Parine NR, Warsy A.
    • J Med Biochem. 2019 Mar 1;38(1):13-21. doi: 10.2478/jomb-2018-0037. eCollection 2019 Mar.
    • 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
    • Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
    • Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P.
    • Gynecol Oncol. 2019 Feb 4. pii: S0090-8258(19)30069-1. doi: 10.1016/j.ygyno.2019.01.027. [Epub ahead of print]
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • 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.
    • 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.

    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

    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.

    • Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
    • Minucci A, Lalle M, De Leo R, Mazzuccato G, Scambia G, Urbani A, Fagotti A, Concolino P, Capoluongo E.
    • Clin Biochem. 2019 Jan;63:54-58. doi: 10.1016/j.clinbiochem.2018.10.004. Epub 2018 Oct 10.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
    • Hjortkjær M, Malik Aagaard Jørgensen M, Waldstrøm M, Ørnskov D, Søgaard-Andersen E, Jakobsen A, Dahl-Steffensen K.
    • Int J Gynecol Cancer. 2019 Jan;29(1):166-173. doi: 10.1136/ijgc-2018-000017.
    • Ovarian Clear Cell Carcinoma in Cowden Syndrome.
    • Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C.
    • J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065.
    • Case report
    • 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.
    • Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
    • Weber-Lassalle K, Harter P, Hauke J, Ernst C, Kommoss S, Marmé F, Weber-Lassalle N, Prieske K, Dietrich D, Borde J, Pohl-Rescigno E, Reuss A, Ataseven B, Engel C, Stingl JC, Schmutzler RK, Hahnen E.
    • Hum Mutat. 2018 Dec;39(12):2040-2046. doi: 10.1002/humu.23653. Epub 2018 Oct 3.
    • Defective DNA repair in hereditary ovarian cancers: Implications for therapy.
    • Burgess BT, Kolesar JM.
    • Am J Health Syst Pharm. 2018 Nov 1;75(21):1697-1707. doi: 10.2146/ajhp180124. Epub 2018 Sep 18.
    • Review
    • Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes.
    • Hodgson DR, Dougherty BA, Lai Z, Fielding A, Grinsted L, Spencer S, O'Connor MJ, Ho TW, Robertson JD, Lanchbury JS, Timms KM, Gutin A, Orr M, Jones H, Gilks B, Womack C, Gourley C, Ledermann J, Barrett JC.
    • Br J Cancer. 2018 Nov;119(11):1401-1409. doi: 10.1038/s41416-018-0274-8. Epub 2018 Oct 24.
    • Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.
    • Benusiglio PR, Coulet F.
    • Gynecol Oncol Rep. 2018 Oct 12;26:69-70. doi: 10.1016/j.gore.2018.10.005. eCollection 2018 Nov.

    Original research:

    Characteristics of Lynch syndrome associated ovarian cancer.

    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2018 Oct 4. doi: 10.1007/s10689-018-0108-0. [Epub ahead of print]
    • Case report
    • Characteristics of Lynch syndrome associated ovarian cancer.
    • Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.
    • Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

    Letter, Commentary:

    Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.

    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • 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.
    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
    • Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6.
    • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
    • Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.
    • Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
    • Barrington DA, Champion ML, Boitano TKL, Walters-Haygood CL, Farmer MB, Alvarez RD, Estes JM, Leath CA 3rd.
    • Gynecol Oncol. 2018 May;149(2):337-340. doi: 10.1016/j.ygyno.2018.02.014. Epub 2018 Mar 2.
    • Small cell cancers of the female genital tract: Molecular and clinical aspects.
    • Patibandla JR, Fehniger JE, Levine DA, Jelinic P.
    • Gynecol Oncol. 2018 May;149(2):420-427. doi: 10.1016/j.ygyno.2018.02.004. Epub 2018 Feb 17.
    • Review
    • Mismatch repair deficiency is associated with MSI phenotype, increased tumor-infiltrating lymphocytes and PD-L1 expression in immune cells in ovarian cancer.
    • Xiao X, Dong D, He W, Song L, Wang O, Yue J, Xie L.
    • Gynecol Oncol. 2018 Apr;149(1):146-154. doi: 10.1016/j.ygyno.2018.02.009. Epub 2018 Mar 1.
    • White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk.
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    Press: Normal-tissue BRCA1 Methylation May Occur Before Birth, Raise Ovarian Cancer Risk. (Medscape/Reuters Health)

    Press: Commentary: Is This 'Provocative Finding' Related to Serous Ovarian Cancer? (Medscape Oncology)

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    • Review
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    • Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.
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    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

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

    • Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
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    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

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

    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

    • Genetics and Genomics of Ovarian Sex Cord-Stromal Tumors.
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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

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    Research News: Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk? (FORCE)

    • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
    • Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators; Australian Ovarian Cancer Study Group, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA.
    • Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675.
    • Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.
    • Pensabene M, Condello C, Carlomagno C, De Placido S, Liccardo R, Duraturo F.
    • Hered Cancer Clin Pract. 2016 Sep 6;14(1):18. doi: 10.1186/s13053-016-0054-5. eCollection 2016.
    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • 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

    Letter, Reply

    Response.

    • Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
    • Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.
    • PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016.
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
    • Oncology Nursing News. 2016 Aug 3.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
    • Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S.
    • Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16.
    • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Goudie C, Ramos P, Boshari T, Brunet JS, Karnezis AN, Longy M, Knost JA, Saloustros E, McCluggage WG, Stewart CJ, Hendricks WP, Cunliffe H, Huntsman DG, Pautier P, Levine DA, Trent JM, Berchuck A, Hasselblatt M, Foulkes WD.
    • Gynecol Oncol. 2016 Jun;141(3):454-60. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.
    • Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
    • Mills AM, Longacre TA.
    • Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.
    • Review
    • Podcast: Don't Allow The Wrong Genetic Test To Be Ordered For Your Family.
    • Ellen T. Matloff.
    • My Gene Counsel. 2016 Apr 26.
    • PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
    • Pharoah PD, Song H, Dicks E, Intermaggio MP, Harrington P, Baynes C, Alsop K; Australian Ovarian Cancer Study Group, Bogdanova N, Cicek MS, Cunningham JM, Fridley BL, Gentry-Maharaj A, Hillemanns P, Lele S, Lester J, McGuire V, Moysich KB, Poblete S, Sieh W, Sucheston-Campbell L, Widschwendter M; Ovarian Cancer Association Consortium, Whittemore AS, Dörk T, Menon U, Odunsi K, Goode EL, Karlan BY, Bowtell DD, Gayther SA, Ramus SJ.
    • J Natl Cancer Inst. 2016 Jan 27;108(3). pii: djv347. doi: 10.1093/jnci/djv347. Print 2016 Mar.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
    • Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium, Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv214. doi: 10.1093/jnci/djv214. Print 2015 Nov;.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRIP1 Mutation

    Subject: Register for the November Cancer SIG Journal Club

    Subject: searching for BRIP1 article

    Press: Scientists find new gene fault behind ovarian cancer (Cancer Research UK)

    Press: Progress towards identifying ovarian cancer risk (PHG Foundation)

    • BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic?
    • Balmaña J, Domchek SM.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv262. doi: 10.1093/jnci/djv262. Print 2015 Nov;.
    • Genetic testing for RAD51C mutations: in the clinic and community.
    • Sopik V, Akbari MR, Narod SA.
    • Clin Genet. 2015 Oct;88(4):303-12. doi: 10.1111/cge.12548. Epub 2015 Jan 7.
    • Review
    • Analyze Association of BRCA2 Arg372His Polymorphism With Ovarian Cancer Risk.
    • Wang C, Yuan C.
    • Int J Gynecol Cancer. 2015 Oct;25(8):1338-44. doi: 10.1097/IGC.0000000000000499.
    • Meta-Analysis
    • Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
    • Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD.
    • J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.
    • 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.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: ovarian cancer risk based on family history

    • Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
    • Pina C, Khattab A, Katzman P, Bruckner L, Andolina J, New M, Yau M.
    • J Pediatr Endocrinol Metab. 2015 May 1;28(5-6):663-7. doi: 10.1515/jpem-2014-0299.
    • Case report
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
    • Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.
    • Features of ovarian cancer in Lynch syndrome (Review).
    • Nakamura K, Banno K, Yanokura M, Iida M, Adachi M, Masuda K, Ueki A, Kobayashi Y, Nomura H, Hirasawa A, Tominaga E, Aoki D.
    • Mol Clin Oncol. 2014 Nov;2(6):909-916. Epub 2014 Aug 20.
    • The histomorphology of Lynch syndrome-associated ovarian carcinomas: toward a subtype-specific screening strategy.
    • Chui MH, Ryan P, Radigan J, Ferguson SE, Pollett A, Aronson M, Semotiuk K, Holter S, Sy K, Kwon JS, Soma A, Singh N, Gallinger S, Shaw P, Arseneau J, Foulkes WD, Gilks CB, Clarke BA.
    • Am J Surg Pathol. 2014 Sep;38(9):1173-81. doi: 10.1097/PAS.0000000000000298.
    • Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
    • Gevensleben H, Bossung V, Meindl A, Wappenschmidt B, de Gregorio N, Osorio A, Romero A, Buettner R, Markiefka B, Schmutzler RK.
    • Virchows Arch. 2014 Sep;465(3):365-9. doi: 10.1007/s00428-014-1619-1. Epub 2014 Jul 4.
    • Letter
    • RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
    • Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A.
    • Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.
    • BRCA1 gene promoter methylation status in high-grade serous ovarian cancer patients - A study of the tumour Bank ovarian cancer (TOC) and ovarian cancer diagnosis consortium (OVCAD).
    • Ruscito I, Dimitrova D, Vasconcelos I, Gellhaus K, Schwachula T, Bellati F, Zeillinger R, Benedetti-Panici P, Vergote I, Mahner S, Cacsire-Tong D, Concin N, Darb-Esfahani S, Lambrechts S, Sehouli J, Olek S, Braicu EI.
    • Eur J Cancer. 2014 Aug;50(12):2090-8. doi: 10.1016/j.ejca.2014.05.001. Epub 2014 Jun 2.
    • Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U.
    • Breast Cancer Res Treat. 2014 Jun;145(3):775-84. doi: 10.1007/s10549-014-2972-0. Epub 2014 May 7.
    • Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
    • Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.
    • Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

    Comment:

    Genetics: SMARCA4 mutated in SCCOHT.

    • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.
    • Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: SMARCA4

    News

    SMARCA4 mutated in SCCOHT

    • 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.
    • Germline mutations of inhibins in early-onset ovarian epithelial tumors.
    • Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T.
    • Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27.
    • Mismatch repair deficiency in ovarian cancer - Molecular characteristics and clinical implications.
    • Xiao X, Melton DW, Gourley C.
    • Gynecol Oncol. 2014 Feb;132(2):506-512. doi: 10.1016/j.ygyno.2013.12.003. Epub 2013 Dec 10.
    • Review
    • PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.
    • Akbari MR, Lepage P, Rosen B, McLaughlin J, Risch H, Minden M, Narod SA.
    • J Natl Cancer Inst. 2014 Jan;106(1):djt323. doi: 10.1093/jnci/djt323. Epub 2013 Nov 21.

    Letter, Comment:

    RE: PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

    Letter, Reply:

    Response.

    Editorial/Comment:

    Molecular wanderings through the DNA damage response and risk for ovarian cancer.

    • Molecular wanderings through the DNA damage response and risk for ovarian cancer.
    • Bookman MA.
    • J Natl Cancer Inst. 2014 Jan;106(1):djt350. doi: 10.1093/jnci/djt350. Epub 2013 Nov 21.

    PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

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    • Review
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    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.
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    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.

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    • Letter

    Letter:

    Germline RAD51C mutations confer susceptibility to ovarian cancer.

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