• Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy.
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    • Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy.
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    • BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.
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    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

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    Original research:

    Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

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    • Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer.
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    • Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
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    • Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
    • Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E.
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    • One Size Does Not Fit All: Breast Cancer in Young Women.
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    • Commentary

    Original research:

    Somatic and germline genomic alterations in very young women with breast cancer.

    • Treatment patterns after poly-ADP ribose polymerase (PARP) inhibitors in epithelial ovarian cancer patients.
    • Sivakumaran T, Krasovitsky M, Freimund A, Lee YC, Webber K, So J, Norris C, Friedlander M, Mileshkin L, Au-Yeung G.
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    • Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
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    • Hered Cancer Clin Pract. 2022 Mar 21;20(1):11. doi: 10.1186/s13053-022-00218-0.
    • Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
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    • Treatment Patterns, Safety, and Patient Reported Outcomes among Adult Women with Human Epidermal Growth Factor Receptor 2–Negative Advanced Breast Cancer with or without or with Unknown BRCA1/2 Mutation(s): Results of a Real-World Study from the United States, United Kingdom, and Four EU Countries.
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    • Review
    • Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.
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    • 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.
    • [Identification of a novel germline BRCA2 variant in a male with breast cancer].
    • Zhang F, Wu K.
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    • Case report. [Article in Chinese]
    • Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
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    • Cell Genom. 2022 Mar 9;2(3):110882. doi: 10.1016/j.xgen.2022.100109.
    • Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.
    • Ajaz S, Zaidi SE, Ali S, Siddiqa A, Memon MA.
    • Front Genet. 2022 Mar 9;13:820610. doi: 10.3389/fgene.2022.820610.
    • Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
    • Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK.
    • Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1.
    • 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 Mar 8. doi: 10.1038/s41416-022-01773-y. Epub ahead of print.
    • Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now.
    • Scott A, Mohan A, Austin S, Amini E, Raupp S, Pannecouk B, Kelley MJ, Narla G, Ramnath N.
    • JCO Oncol Pract. 2022 Mar 8:OP2100693. doi: 10.1200/OP.21.00693. Epub ahead of print.
    • [Application of next-generation sequencing in detection of BRCA1/2 and homologous recombination repair pathway multi-genes germline mutation and correlation analysis].
    • Chen YL, Zhuo ZL, Liu C, Xie F, Yang ZY, Liu PF, Wang S, Zhao XT.
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    • [Article in Chinese]
    • Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
    • Breast Cancer Association Consortium, Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Brüning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Christiansen H, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, Geisler J, Giles GG, Guénel P, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Hartikainen JM, Hartman M, Hoppe R, Howell A, Jakubowska A, Jung A, Khusnutdinova EK, Kristensen VN, Li J, Lim SH, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Morra A, Muir K, Obi N, Osorio A, Park-Simon TW, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Thorne H, Tomlinson I, Torres D, Truong T, Yip CH, Spurdle AB, Vreeswijk MPG, Dunning AM, García-Closas M, Pharoah PDP, Kvist A, Muranen TA, Nevanlinna H, Teo SH, Devilee P, Schmidt MK, Easton DF.
    • JAMA Oncol. 2022 Mar 1;8(3):e216744. doi: 10.1001/jamaoncol.2021.6744. Epub 2022 Mar 17.

    Press: Breast Tumor Features Reflecting Germline Variants May Improve Risk Prediction Models. (Precision Oncology News)

    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

    • Impact of BRCA mutations and hormone receptor status on reproductive potential in breast cancer patients undergoing fertility preservation.
    • Kim SW, Kim TH, Han JY, Kim SK, Lee JR, Jee UC, Suh CS, Kim SH.
    • Gynecol Endocrinol. 2022 Mar;38(3):227-230. doi: 10.1080/09513590.2021.2002294. Epub 2021 Nov 13.
    • Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study.
    • Saad M, Mokrab Y, Halabi N, Shan J, Razali R, Kunji K, Syed N, Temanni R, Subramanian M, Ceccarelli M; Qatar Genome Programme Research Consortium, Rafii Tabrizi A, Bedognetti D, Chouchane L.
    • Lancet Oncol. 2022 Mar;23(3):341-352. doi: 10.1016/S1470-2045(21)00752-X. Epub 2022 Feb 9.

    Commentary:

    Genetic risk of cancer: a tale of diversity from the Middle East.

    Research news: Genetic Cancer Risk Varies by Ancestry in Qatari Population, New Analysis Finds. (GenomeWeb)

    Research news: Qatar Genome Program Reports Genetic Cancer Risk in Diverse Arab Populations. (Inside Precision Medicine)

    • Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
    • ElBiad O, Laraqui A, El Boukhrissi F, Mounjid C, Lamsisi M, Bajjou T, Elannaz H, Lahlou AI, Kouach J, Benchekroune K, Oukabli M, Chahdi H, Ennaji MM, Tanz R, Sbitti Y, Ichou M, Ennibi K, Badaoui B, Sekhsokh Y.
    • BMC Cancer. 2022 Feb 25;22(1):208. doi: 10.1186/s12885-022-09181-4.
    • Variants of Nine Breast Cancer Genes Associated With Severe Disease.
    • Worcester S.
    • Medscape. 2022 Feb 25.

    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

    • Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
    • Chavarri-Guerra Y, Villarreal-Garza C, Ferrigno AS, Mohar A, Aguilar D, Alvarez-Gomez RM, Gallardo-Alvarado L, Del Toro-Valero A, Quintero-Beulo G, Gutierrez-Delgado F, Rodriguez-Olivares JL, Ochoa-Chavez MF, Gutierrez-Seymour G, Castillo D, Herzog J, Weitzel JN.
    • Salud Publica Mex. 2022 Feb 25;64(1):41-48. doi: 10.21149/12704.
    • Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria.
    • James PA, Fortuno C, Li N, Lim BWX, Campbell IG, Spurdle AB.
    • Hum Mutat. 2022 Feb 22. doi: 10.1002/humu.24357. Epub ahead of print.
    • BRCA testing and testing results among women 18-65 years old.
    • Guo F, Scholl M, Fuchs EL, Berenson AB, Kuo YF.
    • Prev Med Rep. 2022 Feb 19;26:101738. doi: 10.1016/j.pmedr.2022.101738.
    • Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients.
    • Chen W, Xia W, Xue S, Huang H, Lin Q, Liu Y, Liu T, Zhang Y, Zhang P, Wang J, Yang Y, Dong B, Yu Z.
    • Front Oncol. 2022 Feb 17;12:746102. doi: 10.3389/fonc.2022.746102.
    • Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.
    • Ostrowska M, Olszewska-Bozek K, Podlodowska J, Sierocinska-Sawa J, Wojcierowski J.
    • J Genomics. 2022 Feb 14;10:33-38. doi: 10.7150/jgen.68220.
    • Human BRCA pathogenic variants were originated during recent human history.
    • Li J, Zhao B, Huang T, Qin Z, Wang SM.
    • Life Sci Alliance. 2022 Feb 14;5(5):e202101263. doi: 10.26508/lsa.202101263.
    • The impact of race and ethnicity in breast cancer-disparities and implications for precision oncology.
    • Hirko KA, Rocque G, Reasor E, Taye A, Daly A, Cutress RI, Copson ER, Lee DW, Lee KH, Im SA, Park YH.
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    • Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.
    • Bozsik A, Papp J, Grolmusz VK, Patócs A, Oláh E, Butz H.
    • Cancer Res Treat. 2022 Feb 8. doi: 10.4143/crt.2021.1078. Epub ahead of print.
    • 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.
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    • Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.
    • Lee J, Ham JY, Park HY, Jung JH, Kim WW, Kang B, Chae YS, Lee SJ, Lee IH, Lee NY.
    • Sci Rep. 2022 Feb 3;12(1):1842. doi: 10.1038/s41598-022-05931-3.
    • Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
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    • Clin Lab. 2022 Feb 1;68(2). doi: 10.7754/Clin.Lab.2021.210609.
    • Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
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    • Impact of rapid genetic testing for BRCA1 and BRCA2 at time of breast cancer diagnosis on psychosocial functioning.
    • Metcalfe KA, Eisen A, Wright F, Poll A, Candib A, McCready D, Cil T, Armel S, Silberman Y, Brennenstuhl S, Narod SA.
    • Breast Cancer Res Treat. 2022 Feb;191(3):631-641. doi: 10.1007/s10549-021-06457-4. Epub 2021 Nov 30.
    • Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer.
    • Guzmán-Arocho YD, Rosenberg SM, Garber JE, Vardeh H, Poorvu PD, Ruddy KJ, Kirkner G, Snow C, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Marotti JD, Warner E, Partridge AH, Collins LC.
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    • Clinical outcomes of BRCA1/2 pathogenic variants in ovarian cancer cluster region in patients with primary peritoneal, epithelial ovarian, and fallopian tube cancer.
    • Ha HI, Park EY, Eoh KJ, Lee YJ, Seo SS, Kang S, Park SY, Lim MC.
    • Gynecol Oncol. 2022 Feb;164(2):415-420. doi: 10.1016/j.ygyno.2021.12.013. Epub 2021 Dec 17.
    • Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants.
    • Douglas MP, Lin GA, Trosman JR, Phillips KA.
    • J Community Genet. 2022 Feb;13(1):75-80. doi: 10.1007/s12687-021-00563-y. Epub 2021 Nov 6.
    • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
    • Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23.
    • Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
    • Ercoskun P, Yuce Kahraman C, Ozkan G, Tatar A.
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    • Somatic and germline genomic alterations in very young women with breast cancer.
    • Waks AG, Kim D, Jain E, Snow C, Kirkner GJ, Rosenberg SM, Oh C, Poorvu PD, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Warner E, Collins LC, Partridge AH, Wagle N.
    • Clin Cancer Res. 2022 Jan 31:clincanres.2572.2021. doi: 10.1158/1078-0432.CCR-21-2572. Epub ahead of print.

    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

    • 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.
    • Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
    • Barbalho D, Sandoval R, Santos E, Pisani J, Quirino C, Garicochea B, Rossi B, Achatz MI.
    • Front Oncol. 2022 Jan 28;11:743231. doi: 10.3389/fonc.2021.743231.
    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;11:797505. doi: 10.3389/fonc.2021.797505.
    • Real-world evidence of the management and prognosis of young women (<40 years) with de novo metastatic breast cancer.
    • Mallet A, Lusque A, Levy C, Pistilli B, Brain E, Pasquier D, Debled M, Thery JC, Gonçalves A, Desmoulins I, De La Motte Rouge T, Faure C, Ferrero JM, Eymard JC, Mouret-Reynier MA, Patsouris A, Cottu P, Dalenc F, Petit T, Payen O, Uwer L, Guiu S, Sébastien Frenel J.
    • Ther Adv Med Oncol. 2022 Jan 21;14:17588359211070362. doi: 10.1177/17588359211070362.
    • Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
    • Eygelaar D, van Rensburg EJ, Joubert F.
    • Sci Rep. 2022 Jan 17;12(1):802. doi: 10.1038/s41598-022-04791-1.
    • New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
    • Diop JPD, Sène ARG, Dia Y, Ba SA, Mbacke SS, Ly CAT, Sarr PD, Diouf D, Ka S, Mbengue B, Gueye SMK, Diop PS, Sylla Niang M, Gueye PM, Lopez Sall P, Dem A, Cisse A, Dieye A, Ndiaye R.
    • Front Oncol. 2022 Jan 13;11:810060. doi: 10.3389/fonc.2021.810060.
    • Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.
    • Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.
    • Zong H, Zhang J, Xu Z, Pan JN, Wang R, Han J, Jiang M, Ren R, Zang L, Wang H, Cao WM.
    • J Cancer. 2022 Jan 9;13(4):1119-1129. doi: 10.7150/jca.65650.
    • Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
    • Tran VT, Nguyen ST, Pham XD, Phan TH, Nguyen VC, Nguyen HT, Nguyen HP, Doan PTT, Le TA, Nguyen BT, Jasmine TX, Nguyen DS, Nguyen HL, Nguyen NM, Do DX, Tran VU, Nguyen HHT, Le MP, Nguyen YN, Do TTT, Truong DK, Tang HS, Phan MD, Nguyen HN, Giang H, Tu LN.
    • Front Oncol. 2022 Jan 5;11:789659. doi: 10.3389/fonc.2021.789659.
    • BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
    • Park JH, Jo JH, Jang SI, Chung MJ, Park JY, Bang S, Park SW, Song SY, Lee HS, Cho JH.
    • Cancers (Basel). 2022 Jan 4;14(1):236. doi: 10.3390/cancers14010236.
    • BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
    • Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E.
    • Fam Cancer. 2022 Jan 4. doi: 10.1007/s10689-021-00286-6. Epub ahead of print.
    • 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.
    • The impact of young age (< 40 years) on the outcome of a cohort of patients with primary non-metastatic breast cancer: analysis of 10-year survival of a prospective study.
    • Bouferraa Y, Haibe Y, Chedid A, Jabra E, Charafeddine M, Temraz S, Mukherji D, El Saghir N, Shamseddine A.
    • BMC Cancer. 2022 Jan 3;22(1):27. doi: 10.1186/s12885-021-09100-z.
    • Increasing referral of at-risk women for genetic counseling and BRCA testing using a screening tool in a community breast imaging center.
    • Arun BK, Peterson SK, Sweeney LE, Bluebond RD, Tidwell RSS, Makhnoon S, Kushwaha AC.
    • Cancer. 2022 Jan 1;128(1):94-102. doi: 10.1002/cncr.33866. Epub 2021 Aug 23.

    Editorial:

    Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

    • 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.
    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • 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. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30.
    • BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
    • Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S.
    • J Int Med Res. 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757.
    • Computational structural assessment of BReast CAncer type 1 susceptibility protein (BRCA1) and BRCA1-Associated Ring Domain protein 1 (BARD1) mutations on the protein-protein interface.
    • Thirumal Kumar D, Udhaya Kumar S, Jain N, Sowmya B, Balsekar K, Siva R, Kamaraj B, Sidenna M, George Priya Doss C, Zayed H.
    • Adv Protein Chem Struct Biol. 2022;130:375-397. doi: 10.1016/bs.apcsb.2022.02.003. Epub 2022 Apr 21.
    • Genetic testing for hereditary predisposition to breast cancer in the real world: Initial experience.
    • da Silva Fontinele DR, Assunção Ribeiro da Costa RE, da Silva Magalhães MK, Vieira SC.
    • Breast Dis. 2022;41(1):249-254. doi: 10.3233/BD-210082.
    • The first comprehensive database of germline pathogenic variants in East Asian cancer patients.
    • Shi X, Li R, Zhai J, Chen AM, Huang K, Zheng Z, Chen Z, Dong X, Liu X, Lu D, Feng S, Diao D, Ren P, Liu Z, Morahan G, Cai K.
    • Database (Oxford). 2021 Dec 29;2021(2021):baab075. doi: 10.1093/database/baab075.
    • 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
    • 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.
    • The Role of US in Depicting Axillary Metastasis in High-Risk Breast Cancer Patients.
    • Pintican R, Duma MM, Szep M, Feier D, Eniu D, Goidescu I, Chiorean A.
    • J Pers Med. 2021 Dec 16;11(12):1379. doi: 10.3390/jpm11121379.
    • Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
    • Southey MC, Dowty JG, Riaz M, Steen JA, Renault AL, Tucker K, Kirk J, James P, Winship I, Pachter N, Poplawski N, Grist S, Park DJ, Pope BJ, Mahmood K, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Rewse A, Willis A, Morrow A, Speechly C, Harris R, Sebra R, Schadt E, Lacaze P, McNeil JJ, Giles GG, Milne RL, Hopper JL, Nguyen-Dumont T.
    • NPJ Breast Cancer. 2021 Dec 9;7(1):153. doi: 10.1038/s41523-021-00360-3.
    • Germline breast cancer susceptibility genes, tumor characteristics, and survival.
    • Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, Tan VKM, Tan BK, Tan SM, Tan EY, Lim SH, Jamaris S, Sim Y, Wong FY, Ngeow J, Lim EH, Tai MC, Wijaya EA, Lee SC, Chan CW, Buhari SA, Chan PMY, Chen JJC, Seah JCM, Lee WP, Mok CW, Lim GH, Woo E, Kim SW, Lee JW, Lee MH, Park SK, Dunning AM, Easton DF, Schmidt MK, Teo SH, Li J, Hartman M.
    • Genome Med. 2021 Dec 2;13(1):185. doi: 10.1186/s13073-021-00978-9.
    • DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.
    • Urbina-Jara LK, Martinez-Ledesma E, Rojas-Martinez A, Rodriguez-Recio FR, Ortiz-Lopez R.
    • Int J Mol Sci. 2021 Dec 2;22(23):13030. doi: 10.3390/ijms222313030.
    • Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
    • Shen L, Zhang S, Wang K, Wang X.
    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Commentary:

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

    • 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.
    • [A Case of Recurrent Breast Cancer with Improving Activities of Daily Living by Olaparib Treatment].
    • Nakagawa T, Oda G, Okamoto K, Ishikawa T, Wakana K, Oshima N.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1556-1558. Japanese.
    • Case report. [Article in Japanese]
    • [Two Cases of Hereditary Breast Cancer in Which Genetic Counseling Was Useful].
    • Sasaki A, Nagata T, Okamoto Y, Watanabe M, Saida Y.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1589-1591. Japanese.
    • Case report. [Article in Japanese]
    • [A Case of Metastatic Breast Cancer with BRCA1 Mutation after Breast Reconstruction and Pregnancy].
    • Suzuki T, Hashimoto N, Yokoyama K, Yoshida T, Yamauchi Y, Sawano T, Ohashi M, Kimura A, Kato M, Umehara Y, Murata A, Takahash K.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1840-1842. Japanese.
    • Case report. [Article in Japanese]
    • [Hereditary Breast and Ovarian Cancer(HBOC)in a Young Adult-A Case Report].
    • Adachi K, Kubota H, Suzuki S, Hirano T, Ishibashi N, Sakurai K.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1843-1845. Japanese.
    • Case report. [Article in Japanese]
    • Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Nov 30.

    Original research:

    Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    • Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
    • Su Y, Yao Q, Xu Y, Yu C, Zhang J, Wang Q, Li J, Shi D, Yu B, Zeng Y, Zhu X, Bai Q, Zhou X.
    • Front Genet. 2021 Nov 30;12:674094. doi: 10.3389/fgene.2021.674094.
    • BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
    • Pepe F, Pisapia P, Russo G, Nacchio M, Pallante P, Vigliar E, De Angelis C, Insabato L, Bellevicine C, De Placido S, Troncone G, Malapelle U.
    • Genes (Basel). 2021 Nov 28;12(12):1917. doi: 10.3390/genes12121917.
    • Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.
    • Jia X, Zhao S, Li X, Lv L, Chen X, Pan E, Ou Q, Song C, Sun S, Zhao J, Xu L, Li M.
    • Onco Targets Ther. 2021 Nov 27;14:5353-5360. doi: 10.2147/OTT.S334847.
    • Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.
    • Khailany RA, Ozaslan M.
    • Cell Mol Biol (Noisy-le-grand). 2021 Nov 25;67(3):35-43. doi: 10.14715/cmb/2021.67.3.5.
    • [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]
    • Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies.
    • Nie D, Zhang J, Wang F, Li X, Liu L, Zhang W, Cao P, Chen X, Zhang Y, Chen J, Ma X, Zhou X, Wu Q, Liu M, Liu M, Tian W, Liu H.
    • Front Med. 2021 Nov 6. doi: 10.1007/s11684-021-0841-x. Epub ahead of print.
    • BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients.
    • Liontos M, Zografos E, Zoumpourlis P, Andrikopoulou A, Svarna A, Fiste O, Kunadis E, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Thomakos N, Haidopoulos D, Rodolakis A, Dimopoulos MA, Zagouri F.
    • Curr Oncol. 2021 Nov 3;28(6):4446-4456. doi: 10.3390/curroncol28060377.
    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

    • Influence of cultural practices on breast cancer risks, stage at presentation and outcome in a multi-ethnic developing country.
    • Abdullah N, Mohamed N.
    • Oncol Lett. 2021 Nov;22(5):806. doi: 10.3892/ol.2021.13067. Epub 2021 Sep 23.
    • Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations.
    • Guan Z, Shen R, Begg CB.
    • Hum Hered. 2021;86(1-4):34-44. doi: 10.1159/000519355. Epub 2021 Oct 29.
    • Changing Patterns in Clinicopathological Characteristics of Breast Cancer and Prevalence of BRCA Mutations: Analysis in a Rural Area of Southern China.
    • Wang Q, Wu H, Lan Y, Zhang J, Wu J, Zhang Y, Li L, Liu D, Zhang J.
    • Int J Gen Med. 2021 Oct 29;14:7371-7380. doi: 10.2147/IJGM.S333858.
    • Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
    • Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN.
    • Eur Urol. 2021 Oct 25:S0302-2838(21)02059-5. doi: 10.1016/j.eururo.2021.09.029. Epub ahead of print.
    • Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis.
    • Witjes VM, van Bommel MHD, Ligtenberg MJL, Vos JR, Mourits MJE, Ausems MGEM, de Hullu JA, Bosse T, Hoogerbrugge N.
    • Gynecol Oncol. 2021 Oct 23:S0090-8258(21)01516-X. doi: 10.1016/j.ygyno.2021.10.072. Epub ahead of print.
    • 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.
    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
    • Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Oct 21:JCO2100640. doi: 10.1200/JCO.21.00640. Epub ahead of print.
    • Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.
    • Shi Z, Lu L, Resurreccion WK, Yang W, Wei J, Wang Q, Engelmann V, Zheng SL, Cooney KA, Isaacs WB, Helfand BT, Lu J, Xu J.
    • Prostate. 2021 Oct 21. doi: 10.1002/pros.24252. Epub ahead of print.
    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2021 Oct 17. doi: 10.1111/1471-0528.16975. Epub ahead of print.

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    • ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
    • Mittal A, Pramanik R.
    • Ann Surg Oncol. 2021 Oct 15. doi: 10.1245/s10434-021-10880-8. Epub ahead of print.
    • Prognostic Prediction of BRCA Mutations by 18F-FDG PET/CT SUVmax in Breast Cancer.
    • Özdemir S, Silan F, Akgün MY, Araci N, Çirpan I, Koç Öztürk F, Özdemir Ö.
    • Mol Imaging Radionucl Ther. 2021 Oct 15;30(3):158-168. doi: 10.4274/mirt.galenos.2021.82584.
    • Penetrance of male breast cancer susceptibility genes: a systematic review.
    • Chamseddine RS, Wang C, Yin K, Wang J, Singh P, Zhou J, Robson ME, Braun D, Hughes KS.
    • Breast Cancer Res Treat. 2021 Oct 13. doi: 10.1007/s10549-021-06413-2. Epub ahead of print.
    • Review
    • 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.
    • Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
    • Uson PLS Jr, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T.
    • Clin Transl Gastroenterol. 2021 Oct 8;12(10):e00414. doi: 10.14309/ctg.0000000000000414.
    • Unique challenges and outcomes of young women with breast cancers from a tertiary care cancer centre in India.
    • Bajpai J, Ventrapati P, Joshi S, Wadasadawala T, Rath S, Pathak R, Nandhana R, Mohanty S, Chougle Q, Engineer M, Abraham N, Ghosh J, Nair N, Gulia S, Popat P, A P, Sheth T, Desai S, Thakur M, Rangrajan V, Parmar V, Sarin R, Gupta S, Badwe RA.
    • Breast. 2021 Oct 6;60:177-184. doi: 10.1016/j.breast.2021.09.008. Epub ahead of print.
    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
    • Fu F, Zhang D, Hu L, Sundaram S, Ying D, Zhang Y, Fu S, Zhang J, Yao L, Xu Y, Xie Y.
    • Cancer Biol Med. 2021 Oct 5:j.issn.2095-3941.2021.0358. doi: 10.20892/j.issn.2095-3941.2021.0358. Epub ahead of print.
    • Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
    • Mittal A, Deo SVS, Gogia A, Batra A, Kumar A, Bhoriwal S, Deb KS, Dhamija E, Thulkar S, Ramprasad VL, Olopade O, Pramanik R.
    • Ann Surg Oncol. 2021 Oct 2:1–10. doi: 10.1245/s10434-021-10870-w. Epub ahead of print.
    • Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
    • Bernstein-Molho R, Galmor L, Laitman Y, Segev S, Friedman E.
    • Cancer. 2021 Oct 1;127(19):3599-3604. doi: 10.1002/cncr.33560. Epub 2021 Jun 22.
    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
    • Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
    • Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
    • Ji G, Bao L, Yao Q, Zhang J, Zhu X, Bai Q, Shao Z, Yang W, Zhou X.
    • J Cancer Res Clin Oncol. 2021 Oct;147(10):2935-2944. doi: 10.1007/s00432-021-03696-2. Epub 2021 Jul 13.
    • Study: Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Sep 30.

    Original research:

    Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.

    • Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics.
    • Mampunye L, van der Merwe NC, Grant KA, Peeters AV, Torrorey-Sawe R, French DJ, Moremi KE, Kidd M, van Eeden PC, Pienaar FM, Kotze MJ.
    • Front Oncol. 2021 Sep 29;11:619817. doi: 10.3389/fonc.2021.619817.
    • 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:j.issn.2095-3941.2021.0011. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
    • Reza MN, Ferdous N, Emon MTH, Islam MS, Mohiuddin AKM, Hossain MU.
    • Sci Rep. 2021 Sep 28;11(1):19264. doi: 10.1038/s41598-021-98547-y.
    • Breast radiotherapy-related treatment outcomes in patients with or without germline mutations on multigene panel testing.
    • Chapman BV, Liu D, Shen Y, Olamigoke OO, Lakomy DS, Barrera AMG, Stecklein SR, Sawakuchi GO, Bright SJ, Bedrosian I, Litton JK, Smith BD, Woodward WA, Perkins GH, Hoffman KE, Stauder MC, Strom EA, Arun BK, Shaitelman SF.
    • Int J Radiat Oncol Biol Phys. 2021 Sep 25:S0360-3016(21)02830-3. doi: 10.1016/j.ijrobp.2021.09.026. Epub ahead of print.
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.
    • Saita C, Aruga T, Adachi M, Kumaki Y, Iwamoto N, Yonekura R, Nakatsugawa N, Inokuchi T, Ishiba T, Honda Y, Yamaguchi T.
    • Int Cancer Conf J. 2021 Sep 22;11(1):12-16. doi: 10.1007/s13691-021-00512-z.
    • Case report
    • 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.
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
    • Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • Genetic testing in women with early-onset breast cancer: a Traceback pilot study.
    • Augustinsson A, Nilsson MP, Ellberg C, Kristoffersson U, Olsson H, Ehrencrona H.
    • Breast Cancer Res Treat. 2021 Sep 16:1–9. doi: 10.1007/s10549-021-06351-z. Epub ahead of print.
    • Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations.
    • Reichl F, Muhr D, Rebhan K, Kramer G, Shariat SF, Singer CF, Tan YY.
    • J Pers Med. 2021 Sep 15;11(9):917. doi: 10.3390/jpm11090917.
    • Clinical consequences of BRCA2 hypomorphism.
    • Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J.
    • NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
    • Zelli V, Silvestri V, Valentini V, Bucalo A, Rizzolo P, Zanna I, Bianchi S, Coppa A, Giannini G, Cortesi L, Calistri D, Tibiletti MG, Fox SB, Fab K, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.
    • Feasibility of genetic testing for cancer risk assessment programme in Nigeria.
    • Adejumo PO, Aniagwu TIG, Awolude OA, Oni AO, Ajayi OO, Fagbenle O, Ogungbade D, Kochheiser M, Ogundiran T, Olopade OI.
    • Ecancermedicalscience. 2021 Sep 7;15:1283. doi: 10.3332/ecancer.2021.1283.
    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
    • de Jonge MM, de Kroon CD, Jenner DJ, Oosting J, de Hullu JA, Mourits MJE, Gómez Garcia EB, Ausems MGEM, Margriet Collée J, van Engelen K, van de Beek I; Hebon Group, Smit VTHBM, Rookus MA, de Bock GH, van Leeuwen FE, Bosse T, Dekkers OM, van Asperen CJ.
    • J Natl Cancer Inst. 2021 Sep 4;113(9):1203-1211. doi: 10.1093/jnci/djab036.

    Commentary:

    BRCA1/2 and Endometrial Cancer Risk: Implications for Management.

    Letter, Commentary:

    RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    Letter, Reply:

    Response to Nahshon and Lavie.

    Research news: Study: Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer. (FORCE. XRAY.)

    • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
    • Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
    • Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.
    • Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.
    • Liu PF, Zhuo ZL, Xie F, Xian HP, Liu C, Wang S, Zhao XT.
    • Ann Clin Lab Sci. 2021 Sep;51(5):670-677.
    • Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at-risk relatives.
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    • RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
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    • J Natl Cancer Inst. 2021 Aug 23:djab154. doi: 10.1093/jnci/djab154. Epub ahead of print.

    Letter, Reply:

    Response to Nahshon and Lavie.

    Original research:

    Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    • Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
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    • A CLEARER VIEW ON OVARIAN CLEAR CELL CARCINOMA.
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    • Review
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    • Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women.
    • [No author given]
    • FORCE. XRAY. 2021 Aug 13.

    Original research:

    Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.

    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
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    • Review
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    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
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    • Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer.
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    • Transl Oncol. 2021 Aug;14(8):101104. doi: 10.1016/j.tranon.2021.101104. Epub 2021 May 13.

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
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    • 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.
    • Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
    • Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Jul 22:JCO2100531. doi: 10.1200/JCO.21.00531. Epub ahead of print.

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
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    • Genomic Risk Prediction for Breast Cancer in Older Women.
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    • High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
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    • JAMA Oncol. 2021 Jul 1;7(7):1045-1050. doi: 10.1001/jamaoncol.2021.1492.

    Research news: Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women. (FORCE. XRAY)

    Research news: UPenn Study Finds Similar Rates of Risk Mutations Among Black, White Breast Cancer Patients. (Precision Oncology News)

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    • The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients with Germline Pathogenic Variants in Cancer Predisposition Genes.
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    • Letter, Comment

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Original research:

    Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

    • Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
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    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
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    • Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.
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    • J Clin Oncol. 2021 May 20;39(15):1619-1630. doi: 10.1200/JCO.20.01200. Epub 2021 Mar 29.
    • Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
    • Zografos E, Korakiti AM, Andrikopoulou A, Rellias I, Dimitrakakis C, Marinopoulos S, Giannos A, Keramopoulos A, Bredakis N, Dimopoulos MA, Zagouri F.
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    • BRCA Germline Mutations in Prostate Cancer: The Future Is Tailored.
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    • Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
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    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
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    • BRCA and Breast Cancer-Related High-Penetrance Genes.
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    • Review, eBook chapter
    • Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.
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    • Front Oncol. 2021 May 11;11:655709. doi: 10.3389/fonc.2021.655709. Erratum in: Front Oncol. 2022 Jan 14;11:840551.

    Commentary:

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

    • Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
    • Fan X, Wynn J, Shang N, Liu C, Fedotov A, Hallquist MLG, Buchanan AH, Williams MS, Smith ME, Hoell C, Rasmussen-Torvik LJ, Peterson JF, Wiesner GL, Murad AM, Jarvik GP, Gordon AS, Rosenthal EA, Stanaway IB, Crosslin DR, Larson EB, Leppig KA, Henrikson NB, Williams JL, Li R, Hebbring S, Weng C, Shen Y, Crew KD, Chung WK.
    • JNCI Cancer Spectr. 2021 May 8;5(4):pkab044. doi: 10.1093/jncics/pkab044.
    • Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.
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    • Front Oncol. 2021 May 7;10:649435. doi: 10.3389/fonc.2021.649435.
    • 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.
    • [Germline and Somatic Mutations in Archived Breast Cancer Specimens of Different Subtypes].
    • Abramov IS, Korneva YS, Shisterova OA, Ikonnikova AY, Emelyanova MA, Lisitsa TS, Krasnov GS, Nasedkina TV.
    • Mol Biol (Mosk). 2021 May-Jun;55(3):412-421. Russian. doi: 10.31857/S0026898421030022.
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    • 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.
    • Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple-negative breast cancer: A single institute retrospective study.
    • Fujisawa F, Tamaki Y, Inoue T, Nakayama T, Yagi T, Kittaka N, Yoshinami T, Nishio M, Matsui S, Kusama H, Kamiura S.
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    • The ten genes for breast (and ovarian) cancer susceptibility.
    • Foulkes WD.
    • Nat Rev Clin Oncol. 2021 May;18(5):259-260. doi: 10.1038/s41571-021-00491-3.

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • 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.
    • Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation.
    • Silva TP, Pereira CA, Raposo AC, Oliveira AR, Arez M, Cabral JMS, Milagre I, Carmo-Fonseca M, Rocha STD.
    • Stem Cell Res. 2021 May;53:102364. doi: 10.1016/j.scr.2021.102364. Epub 2021 Apr 23.
    • Real-world genetic testing patterns in metastatic castration-resistant prostate cancer.
    • Shore N, Ionescu-Ittu R, Yang L, Laliberté F, Mahendran M, Lejeune D, Yu L, Burgents J, Duh MS, Ghate SR.
    • Future Oncol. 2021 Apr 28. doi: 10.2217/fon-2021-0153. Epub ahead of print.
    • Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
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    • Cureus. 2021 Apr 22;13(4):e14637. doi: 10.7759/cureus.14637.
    • Fast Five Quiz: Breast Cancer Myths.
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    • Germline and somatic mutation profile in Cancer patients revealed by a medium-sized pan-Cancer panel.
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    • The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada.
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    • Commentary
    • The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
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    • Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011. Epub ahead of print.
    • Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
    • Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
    • Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
    • Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
    • Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM.
    • BMC Cancer. 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9.
    • Multigene assessment of genetic risk for women for two or more breast cancers.
    • Weitzel JN, Kidd J, Bernhisel R, Shehayeb S, Frankel P, Blazer KR, Turco D, Nehoray B, McGreevy K, Svirsky K, Brown K, Gardiner A, Daly M, Hughes E, Cummings S, Saam J, Slavin TP.
    • Breast Cancer Res Treat. 2021 Apr 7. doi: 10.1007/s10549-021-06201-y. Epub ahead of print.
    • Whole exome sequencing in BRCA1-2 candidate families: 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, Rizzo CL, Lamacchia V, Mannucci S, Pinto AM, Currò A, Oncologic Multidisciplinary Team Azienda Ospedalie Azienda Ospedaliera Universitaria Senese4, Oncologic Multidisciplinary Team Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 Apr 6;10:649435. doi: 10.3389/fonc.2021.649435.
    • BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.
    • Szczerba E, Kaminska K, Mierzwa T, Misiek M, Kowalewski J, Lewandowska MA.
    • Genes (Basel). 2021 Apr 2;12(4):519. doi: 10.3390/genes12040519.
    • Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
    • Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, Schuetze SM, Zalupski MM, Sahai V, Alva A, Schott AF, Caram MEV, Hayes DF, Stoffel EM, Jacobs MF, Kumar-Sinha C, Cao X, Wang R, Lucas D, Ning Y, Rabban E, Bell J, Camelo-Piragua S, Udager AM, Cieslik M, Lonigro RJ, Kunju LP, Robinson DR, Talpaz M, Chinnaiyan AM.
    • JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.

    Editorial:

    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)

    • Tumor phenotype and concordance in synchronous bilateral breast cancer in young women.
    • Pak LM, Gaither R, Rosenberg SM, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Warner E, Snow C, Collins LC, King TA, Partridge AH.
    • Breast Cancer Res Treat. 2021 Apr;186(3):815-821. doi: 10.1007/s10549-020-06027-0. Epub 2020 Nov 26.
    • Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
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    • Fam Cancer. 2021 Apr;20(2):97-101. doi: 10.1007/s10689-020-00205-1. Epub 2020 Sep 12.
    • Genetic Counseling Clinic at AIIMS (New Delhi).
    • Maitra D, Manek P, Gupta N, Srivastava A.
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    • Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
    • Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L.
    • JNCI Cancer Spectr. 2021 Jan 23 [eCollection 2021 Apr];5(2):pkab007. doi: 10.1093/jncics/pkab007.
    • Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study.
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    • Eur J Breast Health. 2021 Mar 31;17(2):123-127. doi: 10.4274/ejbh.galenos.2020.6346.
    • The Relationship of Mutation Carriage of BRCA1/2 and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey.
    • Duzkale N, Kandemir O.
    • Eur J Breast Health. 2021 Mar 31;17(2):137-144. doi: 10.4274/ejbh.galenos.2020.5909.
    • 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.
    • Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.
    • Nguyen-Dumont T, Dowty JG, MacInnis RJ, Steen JA, Riaz M, Dugué PA, Renault AL, Hammet F, Mahmoodi M, Theys D, Tsimiklis H, Severi G, Bolton D, Lacaze P, Sebra R, Schadt E, McNeil J, Giles GG, Milne RL, Southey MC.
    • Cancers (Basel). 2021 Mar 24;13(7):1495. doi: 10.3390/cancers13071495.
    • 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 Mar 22;10:663419. doi: 10.3389/fonc.2021.663419.
    • 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.
    • Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.
    • Akaev I, Rahimi S, Onifade O, Gardner FJE, Castells-Rufas D, Jones E, Acharige S, Yeoh CC.
    • Diagnostics (Basel). 2021 Mar 19;11(3):547. doi: 10.3390/diagnostics11030547.
    • 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.
    • Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
    • Lyss AP.
    • Medscape. News & Perspective. 2021 Mar 8.

    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

    • 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.
    • Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
    • Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
    • Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
    • 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.
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    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
    • Feng Z, Wen H, Ju X, Bi R, Chen X, Yang W, Wu X.
    • Ann Transl Med. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136.
    • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
    • Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
    • Breast Cancer. 2021 Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1. Epub 2020 Sep 28.
    • New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.
    • Gervas P, Molokov A, Ivanova A, Panferova Y, Kiselev A, Chernyshova A, Pisareva L, Choynzonov E, Cherdyntseva N.
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    • The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.
    • Okano M, Nomizu T, Tachibana K, Nagatsuka M, Matsuzaki M, Katagata N, Ohtake T, Yokoyama S, Arai M, Nakamura S.
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    • Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.
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    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

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    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    • Letter, Comment

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    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer—Reply

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
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    • Letter, Comment

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer-Reply.

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

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    Guidelines:

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

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    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
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    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.

    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy.
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    • A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
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    • Case report, Letter
    • Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
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    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
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    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    • Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
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    • Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
    • Incorvaia L, Fanale D, Badalamenti G, Bono M, Calò V, Cancelliere D, Castiglia M, Fiorino A, Pivetti A, Barraco N, Cutaia S, Russo A, Bazan V.
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    • Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
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    • Nat Commun. 2020 May 5;11(1):2206. doi: 10.1038/s41467-020-16067-1.

    Research news: Pediatric Cancer Patients With Solid Tumors Have Many Druggable Germline Alterations. (GenomeWeb)

    • Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
    • Alsultan A, Essa M, Aljefri A, Ayas M, Alharbi M, Alkhayat N, Al-Anzi F, Yassin F, Alkasim F, Alharbi Q, Abdullah S, Jastaniah W.
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    • Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
    • Yadav S, Hu C, Hart SN, Boddicker N, Polley EC, Na J, Gnanaolivu R, Lee KY, Lindstrom T, Armasu S, Fitz-Gibbon P, Ghosh K, Stan DL, Pruthi S, Neal L, Sandhu N, Rhodes DJ, Klassen C, Peethambaram PP, Haddad TC, Olson JE, Hoskin TL, Goetz MP, Domchek SM, Boughey JC, Ruddy KJ, Couch FJ.
    • J Clin Oncol. 2020 May 1;38(13):1409-1418. doi: 10.1200/JCO.19.02190. Epub 2020 Mar 3.

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Podcast, Research review: Genetic Testing in Breast Cancer Patients: Striking the Balance Between Over Versus Undertesting. (JCO Podcast. 2020 Mar 11.)

    Research news: Study: Among women with breast cancer, who should have genetic testing for an inherited mutation? (FORCE. XRAYS.)

    • Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.
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    • J BUON. 2020 May-Jun;25(3):1337-1347.
    • Comparison of breast cancer incidence, clinicopathologic features, and risk factor prevalence in women aged 20-29 at diagnosis to those aged 30-39.
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    • Breast J. 2020 May;26(5):1069-1070. doi: 10.1111/tbj.13783. Epub 2020 Feb 14.
    • Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
    • Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D.
    • Diagnostics (Basel). 2020 Apr 30;10(5). pii: E269. doi: 10.3390/diagnostics10050269.
    • Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family.
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    • Pan-Cancer Analysis of BRCA1 and BRCA2 Genomic Alterations and Their Association With Genomic Instability as Measured by Genome-Wide Loss of Heterozygosity.
    • Sokol ES, Pavlick D, Khiabanian H, Frampton GM, Ross JS, Gregg JP, Lara PN, Oesterreich S, Agarwal N, Necchi A, Miller VA, Alexander B, Ali SM, Ganesan S, Chung JH.
    • JCO Precis Oncol. 2020;4:442. doi: 10.1200/PO.19.00345. Epub 2020 Apr 30.
    • Olaparib for Metastatic Castration-Resistant Prostate Cancer.
    • de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Mehra N, Goessl C, Kang J, Burgents J, Wu W, Kohlmann A, Adelman CA, Hussain M.
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    • Rare germline genetic variants and risk of aggressive prostate cancer.
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    • Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.
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    • Commentary
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
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    • Germline and somatic DNA repair gene alterations in prostate cancer.
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    • Increased Rate of Complete Pathologic Response After Neoadjuvant FOLFIRINOX for BRCA Mutation Carriers with Borderline Resectable Pancreatic Cancer.
    • Golan T, Barenboim A, Lahat G, Nachmany I, Goykhman Y, Shacham-Shmueli E, Halpern N, Brazowski E, Geva R, Wolf I, Goldes Y, Ben-Haim M, Klausner JM, Lubezky N.
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    Research review, Commentary:

    ASO Author Reflections: Pancreatic Cancer Patients with Germline BRCA Mutations Benefit from Early Introduction of Platinum-Based Chemotherapy.

    • Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
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    Press: Inherited Mutations in Postmenopausal Breast Cancer Patients Suggest Genetic Testing Is Warranted. (GenomeWeb)

    Press Release: Older women with breast cancer may benefit from genetic testing. (Stanford Medicine)

    Press: Genetic testing may benefit some postmenopausal women with breast cancer. (Healio)

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    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

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    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

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    Letter:

    RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.

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    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

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    Guidelines:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.

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    • Letter, Commentary

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    Letter, Reply:

    Response to Yang, Shi, Wang, et al.

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    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

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    Letter, Comment:

    RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.

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    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

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