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    Original research:

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

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    Commentary:

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

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

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    Commentary:

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    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.
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    • Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study.
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    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.
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    • 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.
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    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
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    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

    A commentary on the discrepancy between blood and tumour BRCA testing: An open question.

    • Impact of rapid genetic testing for BRCA1 and BRCA2 at time of breast cancer diagnosis on psychosocial functioning.
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    • BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
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    Editorial:

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

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    • Review
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    Commentary:

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

    • Influence of germline BRCA genotype on the survival of patients with triple-negative breast cancer.
    • Villarreal-Garza C, Ferrigno AS, Aranda-Gutierrez A, Frankel PH, Ruel NH, Fonseca A, Narod S, Chavarri-Guerra Y, Sifuentes E, Magallanes-Hoyos MC, Herzog J, Castillo D, Alvarez-Gomez RM, Mohar-Betancourt A, Weitzel JN.
    • Cancer Res Commun. 2021 Dec;1(3):140-147. doi: 10.1158/2767-9764.crc-21-0099. Epub 2021 Dec 8.
    • 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]
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • Saied MH, Elkaffash D, Fadl R, Haleem RA, Refeat A, Ibrahim I, Tahoun M, Elkayal A, Tayae E.
    • Mol Med Rep. 2021 Sep;24(3):678. doi: 10.3892/mmr.2021.12317. Epub 2021 Jul 23.
    • Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
    • Wei J, Yang W, Shi Z, Lu L, Wang Q, Resurreccion WK, Engelmann V, Zheng SL, Hulick PJ, Cooney KA, Isaacs WB, Helfand BT, Lu J, Xu J.
    • Prostate. 2021 Sep;81(13):1002-1008. doi: 10.1002/pros.24195. Epub 2021 Jul 12.
    • Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
    • Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
    • Breast Cancer. 2021 Aug 31. doi: 10.1007/s12282-021-01283-4. Epub ahead of print.
    • Genetic predisposition to male breast cancer in Poland.
    • Szwiec M, Tomiczek-Szwiec J, Kluzniak W, Wokolorczyk D, Osowiecka K, Sibilski R, Wachowiak M, Gronwald J, Gronwald H, Lubinski J, Cybulski C, Narod SA, Huzarski T.
    • BMC Cancer. 2021 Aug 30;21(1):975. doi: 10.1186/s12885-021-08718-3.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
    • Nahshon C, Lavie O.
    • 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.
    • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, Ngan HYS, Chan TL, Ma ESK.
    • Cancers (Basel). 2021 Aug 20;13(16):4195. doi: 10.3390/cancers13164195.
    • Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
    • Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, Messaoud O, Bouaziz H, Berrazega Y, Rachdi H, Jaidane O, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Ben Hassouna J, Haddaoui A, Rahal K, Benna F, Mrad R, Ben Ahmed S, Boussen H, Boubaker S, Abdelhak S.
    • Front Oncol. 2021 Aug 20;11:674965. doi: 10.3389/fonc.2021.674965.
    • Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
    • Gong Y, Nagarathinam R, Arisi MF, Gerratana L, Winn JS, Slifker M, Pei J, Cai KQ, Hasse Z, Obeid E, Noriega J, Sebastiano C, Ross E, Alpaugh K, Cristofanilli M, Fernandez SV.
    • Int J Mol Sci. 2021 Aug 19;22(16):8924. doi: 10.3390/ijms22168924.
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • A CLEARER VIEW ON OVARIAN CLEAR CELL CARCINOMA.
    • De Pauw A, Naert E, Van de Vijver K, Philippe T, Vandecasteele K, Denys H.
    • Acta Clin Belg. 2021 Aug 17:1-13. doi: 10.1080/17843286.2021.1964051. Epub ahead of print.
    • Review
    • Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.
    • Aaquist T, Dembic M, Thomassen M, de Stricker K, Bertelsen M, Christensen LG, Mortensen MB, Detlefsen S.
    • Pathol Res Pract. 2021 Aug 17;226:153590. doi: 10.1016/j.prp.2021.153590. Epub ahead of print.
    • 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.
    • Hamdi Y, Boujemaa M, Mighri N, Mejri N, Jaidane O, Ben Nasr S, Bouaziz H, Hassouna JB, Zribi A, Berrazaga Y, Rachdi H, Daoud N, El Benna H, Labidi S, Haddaoui A, Rahal K, Benna F, Boussen H, Abdelhak S, Boubaker S.
    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
    • Risks and Function of Breast Cancer Susceptibility Alleles.
    • Torabi Dalivandan S, Plummer J, Gayther SA.
    • Cancers (Basel). 2021 Aug 5;13(16):3953. doi: 10.3390/cancers13163953.
    • 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.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Aug;188(3):811-820. doi: 10.1007/s10549-021-06224-5. Epub 2021 Apr 23.
    • Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
    • Senda N, Kawaguchi-Sakita N, Kawashima M, Inagaki-Kawata Y, Yoshida K, Takada M, Kataoka M, Torii M, Nishimura T, Kawaguchi K, Suzuki E, Kataoka Y, Matsumoto Y, Yoshibayashi H, Yamagami K, Tsuyuki S, Takahara S, Yamauchi A, Shinkura N, Kato H, Moriguchi Y, Okamura R, Kan N, Suwa H, Sakata S, Mashima S, Yotsumoto F, Tachibana T, Tanaka M, Togashi K, Haga H, Yamada T, Kosugi S, Inamoto T, Sugimoto M, Ogawa S, Toi M.
    • Cancer Sci. 2021 Aug;112(8):3338-3348. doi: 10.1111/cas.14986. Epub 2021 Jun 28.
    • Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer.
    • Paik HJ, Jung YJ, Kim DI, Lee S, Jung CS, Kang SK, Kim JJ, Oh SY, Joo JH, Kim HY.
    • Oncology. 2021 [Aug];99(8):499-506. doi: 10.1159/000515790. Epub 2021 Jun 7.
    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
    • Stella S, Martorana F, Manzella L, Vigneri P.
    • 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.
    • Evans DG, Howell SJ, Gandhi A, van Veen EM, Woodward ER, Harvey J, Barr L, Wallace A, Lalloo F, Wilson M, Hurley E, Lim Y, Maxwell AJ, Harkness EF, Howell A.
    • Breast Cancer Res Treat. 2021 Jul 26. doi: 10.1007/s10549-021-06333-1. Epub ahead of print.
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    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)

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    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)

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
    • Sorscher S.
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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.

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
    • Colas C, De Pauw A, Golmard L.
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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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    • Letter, Comment

    Letter, Reply:

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

    Original research:

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    Commentary:

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

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    • Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple-negative breast cancer: A single institute retrospective study.
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    • The ten genes for breast (and ovarian) cancer susceptibility.
    • Foulkes WD.
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    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.
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    • Commentary
    • The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
    • Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ.
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    • Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
    • Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
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    • 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.
    • 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.
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    • Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.
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    • Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
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    • Genetic Counseling Clinic at AIIMS (New Delhi).
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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.
    • Atci MM, Geredeli Ç, Ay S, Sakin A, Ertürk B, Seçmeler S, Arici S, Çekin R, Yasar N, Can O, Cihan S, Gümüs M.
    • 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.
    • 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.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • 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.
    • Exp Oncol. 2021 Mar;43(1):52-55. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-1.15587.
    • 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.
    • J Hum Genet. 2021 Mar;66(3):307-314. doi: 10.1038/s10038-020-00849-y. Epub 2020 Oct 12.
    • Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.
    • Hallenstein LG, Sorensen C, Hodgson L, Wen S, Westhuyzen J, Hansen C, Last ATJ, Amalaseelan JV, Salindera S, Ross W, Spigelman AD, Shakespeare TP, Aherne NJ.
    • Hered Cancer Clin Pract. 2021 Feb 26;19(1):19. doi: 10.1186/s13053-021-00176-z.
    • Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
    • Sunar V, Korkmaz V, Topcu V, Cavdarli B, Arik Z, Ozdal B, Ustun YE.
    • Asia Pac J Clin Oncol. 2021 Feb 25. doi: 10.1111/ajco.13520. Epub ahead of print.
    • Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
    • Butz H, Papp J, Bozsik A, Krokker L, Pócza T, Oláh E, Patócs A.
    • Cancers (Basel). 2021 Feb 20;13(4):881. doi: 10.3390/cancers13040881.
    • Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
    • Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
    • PLoS One. 2021 Feb 19;16(2):e0247363. doi: 10.1371/journal.pone.0247363.
    • Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
    • Lukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Nielacna M, Madry R, Bialkowska K, Prajzendanc K, Kluzniak W, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubinski J, Jakubowska A.
    • Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
    • A Review of Cancer Genetics and Genomics Studies in Africa.
    • Rotimi SO, Rotimi OA, Salhia B.
    • Front Oncol. 2021 Feb 15;10:606400. doi: 10.3389/fonc.2020.606400.
    • Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.
    • Oosthuizen J, Kotze MJ, Van Der Merwe N, Myburgh EJ, Bester P, van der Merwe NC.
    • Front Oncol. 2021 Feb 12;10:619469. doi: 10.3389/fonc.2020.619469.
    • Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.
    • Xu Z, Wang Y, Wang L, Cui F, Zhang L, Xiong J, Peng H.
    • Hered Cancer Clin Pract. 2021 Feb 9;19(1):16. doi: 10.1186/s13053-021-00174-1.
    • Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
    • Moradian MM, Babikyan DT, Markarian S, Petrosyan JG, Avanesian N, Arutunyan T, Sarkisian TF.
    • Hum Genome Var. 2021 Feb 9;8(1):9. doi: 10.1038/s41439-021-00140-2.
    • Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
    • Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ.
    • J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.

    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

    • Implementing genomic screening in diverse populations.
    • Abul-Husn NS, Soper ER, Braganza GT, Rodriguez JE, Zeid N, Cullina S, Bobo D, Moscati A, Merkelson A, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE.
    • Genome Med. 2021 Feb 5;13(1):17. doi: 10.1186/s13073-021-00832-y.
    • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
    • Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF.
    • N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

    •• 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)

    • A Population-Based Study of Genes Previously Implicated in Breast Cancer.
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    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    •• 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.

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    • Yoshihara K, Enomoto T, Aoki D, Watanabe Y, Kigawa J, Takeshima N, Inomata H, Hattori K, Jinushi M, Tsuda H, Sugiyama T.
    • Cancer Sci. 2020 Jun 3. doi: 10.1111/cas.14513. Epub ahead of print.
    • Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
    • Armel SR, Volenik A, Demsky R, Malcolmson J, Maganti M, McCuaig J.
    • Gynecol Oncol. 2020 Jun 3:S0090-8258(20)31082-9. doi: 10.1016/j.ygyno.2020.05.014. Epub ahead of print.
    • BFOR Study Uses Digital Tools to Facilitate Population BRCA Screening in Ashkenazi Jewish Community.
    • Anderson A.
    • Precision Oncology News. 2020 Jun 3.
    • Germline Testing In Advanced Cancer Can Lead to Targeted Tx.
    • Nelson R.
    • Medscape. Conference News. 2020 Jun 2.
    • BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients.
    • Meng H, Yao L, Yuan H, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2020 Jun 1;146(11):3044-3052. doi: 10.1002/ijc.32877. Epub 2020 Feb 22.
    • The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
    • Liu M, Liu X, Suo P, Gong Y, Qu B, Peng X, Xiao W, Li Y, Chen Y, Zeng Z, Lu Y, Huang T, Zhao Y, Liu M, Li L, Chen Y, Zhou Y, Liu G, Yao J, Chen S, Song L.
    • Transl Lung Cancer Res. 2020 Jun;9(3):646-658. doi: 10.21037/tlcr-19-403.
    • Germline Results From Tumor-Normal Sequencing Guides Precision Therapy in Advanced Cancer Patients.
    • Ray T.
    • Precision Oncology News. 2020 May 31.

    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).

    • Ancestry-specific predisposing germline variants in cancer.
    • Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network, Hirsch FR, Ding L, Beroukhim R, Gümüs ZH, Plon SE, Huang KL.
    • Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.
    • A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer.
    • Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders E.
    • Cancer Epidemiol Biomarkers Prev. 2020 May 28:cebp.1551.2019. doi: 10.1158/1055-9965.EPI-19-1551. Epub ahead of print.
    • Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.
    • Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, Wang N, Guo M, Zhao G, Wang SM.
    • J Med Genet. 2020 May 28:jmedgenet-2020-106970. doi: 10.1136/jmedgenet-2020-106970. Epub ahead of print.
    • Increased prevalence of BRCA1/2 mutations in women with macro-textured breast implants and anaplastic large cell lymphoma of the breast.
    • De Boer M, Hauptmann M, Hijmering NJ, van Noesel CJM, Rakhorst HA, Meijers-Heijboer HE, Boer JP, van der Hulst RR, De Jong D, van Leeuwen FE.
    • Blood. 2020 May 26:blood.2019004498. doi: 10.1182/blood.2019004498. Epub ahead of print.
    • Letter
    • Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.
    • Algebaly AS, Suliman RS, Al-Qahtani WS.
    • Clin Transl Oncol. 2020 May 25. doi: 10.1007/s12094-020-02385-9. Epub ahead of print.
    • Diagnosing hereditary cancer predisposition in men with prostate cancer.
    • Pritzlaff M, Tian Y, Reineke P, Stuenkel AJ, Allen K, Gutierrez S, Jackson M, Dolinsky JS, LaDuca H, Xu J, Black MH, Helfand BT.
    • Genet Med. 2020 May 22. doi: 10.1038/s41436-020-0830-5. Epub ahead of print.
    • Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing.
    • Hart SN, Polley EC, Yussuf A, Yadav S, Goldgar DE, Hu C, LaDuca H, Smith LP, Fujimoto J, Li S, Couch FJ, Dolinsky JS.
    • Hum Mutat. 2020 May 22. doi: 10.1002/humu.24053. Epub ahead of print.
    • Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.
    • Kour A, Sambyal V, Guleria K, Singh NR, Uppal MS, Manjari M, Sudan M.
    • Genet Mol Biol. 2020 May 20;43(2):e20190014. doi: 10.1590/1678-4685-GMB-2019-0014.
    • Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer.
    • Gomes R, Soares BL, Felicio PS, Michelli R, Netto CBO, Alemar B, Ashton-Prolla P, Palmero EI, Moreira MÂM.
    • Genet Mol Biol. 2020 May 20;43(2):e20190072. doi: 10.1590//1678-4685-GMB-2019-0072.
    • Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
    • Santonocito C, Rizza R, Paris I, Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.
    • Cancers (Basel). 2020 May 19;12(5):E1286. doi: 10.3390/cancers12051286.
    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
    • Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Couch FJ.
    • 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.
    • Toss A, Molinaro E, Venturelli M, Domati F, Marcheselli L, Piana S, Barbieri E, Grandi G, Piombino C, Marchi I, Tenedini E, Tagliafico E, Tazzioli G, Cortesi L.
    • Cancers (Basel). 2020 May 15;12(5):E1252. doi: 10.3390/cancers12051252.
    • A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
    • Capoluongo E, De Matteis E, Cucinotto I, Ronzino G, Santonocito C, Tornesello A, De Giorgio MR, Lucci Cordisco E, Minucci A, Genuardi M.
    • Clin Chem Lab Med. 2020 May 12:/j/cclm.ahead-of-print/cclm-2020-0389/cclm-2020-0389.xml. doi: 10.1515/cclm-2020-0389. Epub ahead of print.
    • Case report, Letter
    • 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.
    • Sirisena N, Biswas K, Sullivan T, Stauffer S, Cleveland L, Southon E, Dissanayake VHW, Sharan SK.
    • Breast Cancer Res. 2020 May 11;22(1):43. doi: 10.1186/s13058-020-01272-z.
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • 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.
    • Tennen RI, Laskey SB, Koelsch BL, McIntyre MH, Tung JY.
    • Sci Rep. 2020 May 6;10(1):7669. doi: 10.1038/s41598-020-63466-x.
    • 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.
    • Cancers (Basel). 2020 May 5;12(5):E1158. doi: 10.3390/cancers12051158.
    • Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
    • Akhavanfard S, Padmanabhan R, Yehia L, Cheng F, Eng C.
    • 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.
    • Pediatr Blood Cancer. 2020 May 2:e28340. doi: 10.1002/pbc.28340. [Epub ahead of print]
    • 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.
    • Demir S, Tozkir H, Gurkan H, Atli EI, Yalcintepe S, Atli E, Sezer YA, Eker D, Tuncbilek N, Tastekin E, Ozen Y, Cicin I.
    • 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.
    • Limbach KE, Leon E, Pommier RF, Pommier SJ.
    • 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.
    • Liao Y, Tu C, Song X, Cai L.
    • J Assist Reprod Genet. 2020 Apr 30. doi: 10.1007/s10815-020-01783-w. [Epub ahead of print]
    • 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;4:442-465. 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.
    • N Engl J Med. 2020 Apr 28. doi: 10.1056/NEJMoa1911440. [Epub ahead of print]
    • Rare germline genetic variants and risk of aggressive prostate cancer.
    • Nguyen-Dumont T, MacInnis RJ, Steen JA, Theys D, Tsimiklis H, Hammet F, Mahmoodi M, Pope BJ, Park DJ, Mahmood K, Severi G, Bolton D, Milne RL, Giles GG, Southey MC.
    • Int J Cancer. 2020 Apr 27. doi: 10.1002/ijc.33024. [Epub ahead of print]
    • Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.
    • Conley CC, Garcia JD, Radford C, Reich RR, Monteiro AN, Pal T, Vadaparampil ST.
    • Breast J. 2020 Apr 22. doi: 10.1111/tbj.13848. Epub ahead of print.
    • Commentary
    • Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
    • Zeng C, Guo X, Wen W, Shi J, Long J, Cai Q, Shu XO, Xiang Y, Zheng W.
    • Breast Cancer Res Treat. 2020 Apr 21. doi: 10.1007/s10549-020-05643-0. [Epub ahead of print]
    • Germline and somatic DNA repair gene alterations in prostate cancer.
    • Dall'Era MA, McPherson JD, Gao AC, DeVere White RW, Gregg JP, Lara PN Jr.
    • Cancer. 2020 Apr 21. doi: 10.1002/cncr.32908. [Epub ahead of print]
    • 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.
    • Ann Surg Oncol. 2020 Apr 20. doi: 10.1245/s10434-020-08469-8. [Epub ahead of print]

    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.
    • Bernstein-Molho R, Friedman E, Kedar I, Laitman Y, Allweis TM, Gal-Yam EN, Feldman HB, Grinshpun A, Halpern N, Hartmajer S, Kadouri L, Katz LH, Kaufman B, Laish I, Levanon K, Philipsborn SL, Ludman M, Moran G, Peretz T, Reinstein E, Levi GR, Safra T, Shkedi S, Vinkler C, Levy Z, Goldberg Y.
    • Breast Cancer Res Treat. 2020 Apr 18. doi: 10.1007/s10549-020-05633-2. [Epub ahead of print]
    • Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.
    • Sutherland N, Espinel W, Grotzke M, Colonna S.
    • J Genet Couns. 2020 Apr 18. doi: 10.1002/jgc4.1278. [Epub ahead of print]
    • Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.
    • Behl S, Hamel N, de Ladurantaye M, Lepage S, Lapointe R, Mes-Masson AM, Foulkes WD.
    • Sci Rep. 2020 Apr 16;10(1):6491. doi: 10.1038/s41598-020-63100-w.
    • Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
    • Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J.
    • Cancers (Basel). 2020 Apr 13;12(4). pii: E956. doi: 10.3390/cancers12040956.
    • [Detection of a BRCA1 c.2013_2014ins GT variant an ethnic Han Chinese pedigree affected with breast cancer].
    • Qi P, Gao L, He X, Ni Y, Xu S, Mai X, Zhang G, Liu Y, Guo Y, Zhou Y, Hu Q.
    • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):415-418. doi: 10.3760/cma.j.issn.1003-9406.2020.04.012.
    • Case report, [Article in Chinese]
    • Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
    • Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV.
    • JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959.

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

    • Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
    • Choi MC, Hwang S, Kim S, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim TH, Kang H, An HJ.
    • Cancer Res Treat. 2020 Apr;52(2):634-644. doi: 10.4143/crt.2019.207. Epub 2020 Jan 6.
    • Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.
    • Frey MK, Lee SS, Gerber D, Schwartz ZP, Martineau J, Lutz K, Reese E, Dalton E, Olsen A, Girdler J, Pothuri B, Boyd L, Curtin JP, Levine DA, Blank SV.
    • Gynecol Oncol. 2020 Apr;157(1):280-286. doi: 10.1016/j.ygyno.2020.01.007. Epub 2020 Feb 11.
    • Polymorphisms and rare variants identified by next-generation sequencing confer risk for lung cancer in han Chinese population.
    • Li X, Liu J, Wang K, Zhou J, Zhang H, Zhang M, Shi Y.
    • Pathol Res Pract. 2020 Apr;216(4):152873. doi: 10.1016/j.prp.2020.152873. Epub 2020 Feb 13.
    • Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer.
    • Liu X, Takata S, Ashikawa K, Aoi T, Kosugi S, Terao C, Parrish NF, Matsuda K, Nakagawa H, Kamatani Y, Kubo M, Momozawa Y.
    • JCO Precis Oncol. 2020 Nov [Epub 2020 Mar 24];4:183-191. doi: 10.1200/PO.19.00224.
    • Germline BRCA Mutation Rates in Latina Women Presenting for Gynecologic Oncology Care.
    • Hong L, Gonzalez R, Unternaehrer J, Ioffe Y.
    • Gynecol Obstet Invest. 2020 Mar 23:1-8. doi: 10.1159/000506108. [Epub ahead of print]
    • Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.
    • Sinha S, Wang SM.
    • Comput Struct Biotechnol J. 2020 Mar 21;18:723-736. doi: 10.1016/j.csbj.2020.03.013. eCollection 2020.
    • Analysis of 3297 individuals suggests that the pathogenic germline 5'-UTR variant BRCA1 c.-107A?>?T is not common in south-east Germany.
    • Laner A, Benet-Pages A, Neitzel B, Holinski-Feder E.
    • Fam Cancer. 2020 Mar 21. doi: 10.1007/s10689-020-00175-4. [Epub ahead of print]
    • Prognostic Value of Germline DNA Repair Gene Mutations in De Novo Metastatic and Castration-Sensitive Prostate Cancer.
    • Wei Y, Wu J, Gu W, Wang J, Lin G, Qin X, Dai B, Gan H, Ye D, Zhu Y.
    • Oncologist. 2020 Mar 19. doi: 10.1634/theoncologist.2019-0495. [Epub ahead of print]
    • Pathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience.
    • Rush SK, Swisher EM, Garcia RL, Pennington KP, Agnew KJ, Kilgore MR, Norquist BM.
    • Gynecol Oncol. 2020 Mar 18. pii: S0090-8258(20)30101-3. doi: 10.1016/j.ygyno.2020.02.006. [Epub ahead of print]
    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
    • Riedlova P, Janoutova J, Hermanova B.
    • Mol Biol Rep. 2020 Mar 16. doi: 10.1007/s11033-020-05378-7. [Epub ahead of print]
    • Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.
    • Eoh KJ, Kim HM, Lee JY, Kim S, Kim SW, Kim YT, Nam EJ.
    • BMC Cancer. 2020 Mar 12;20(1):204. doi: 10.1186/s12885-020-6693-y.
    • Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer.
    • You Y, Li L, Lu J, Wu H, Wang J, Gao J, Wu M, Liang Z.
    • Front Oncol. 2020 Mar 10;10:295. doi: 10.3389/fonc.2020.00295. eCollection 2020.
    • Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer.
    • Kurian AW, Bernhisel R, Larson K, Caswell-Jin JL, Shadyab AH, Ochs-Balcom H, Stefanick ML.
    • JAMA. 2020 Mar 10;323(10):995-997. doi: 10.1001/jama.2020.0229.

    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)

    • Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family.
    • Sadzeviciene I, Jarmalaite S, Besusparis J, Liaugaudiene O, Asadauskiene J, Brasiuniene B, Kulikiene I, Sabaliauskaite R.
    • Medicina (Kaunas). 2020 Mar 10;56(3). pii: E119. doi: 10.3390/medicina56030119.
    • Germline BRCA, chemotherapy response scores, and survival in the neoadjuvant treatment of ovarian cancer.
    • Lee YJ, Kim HS, Rim JH, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT.
    • BMC Cancer. 2020 Mar 4;20(1):185. doi: 10.1186/s12885-020-6688-8.
    • Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer.
    • Boyle JL, Hahn AW, Kapron AL, Kohlmann W, Greenberg SE, Parnell TJ, Teerlink CC, Maughan BL, Feng BJ, Cannon-Albright L, Agarwal N, Cooney KA.
    • JCO Precis Oncol. 2020 Mar 4;4:PO.19.00284. doi: 10.1200/PO.19.00284.
    • [Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation].
    • Benavides J, Suárez J, Estrada A, Bohórquez M, Ramírez C, Olaya J, Sánchez Y, Mateus G, Carvajal L, Echeverry MM.
    • Biomedica. 2020 Mar 1;40(1):185-194. doi: 10.7705/biomedica.4673.
    • Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes - a Case Report.
    • Pazderová N, Urbán V, Makovník M, Macák D, Janega P, Chovanec M, Rejleková K, Mardiak J, Mego M.
    • Klin Onkol. 2020 Spring;33(3):220-225. English. doi: 10.14735/amko2020220.
    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
    • Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M.
    • Ann Lab Med. 2020 Mar;40(2):148-154. doi: 10.3343/alm.2020.40.2.148.

    Introductory article:

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

    • Next generation sequencing of BRCA genes in glioblastoma multiform Egyptian patients: a pilot study.
    • Nageeb AM, Mohamed MM, Ezz El Arab LR, Khalifa MK, Swellam M.
    • Arch Physiol Biochem. 2020 Feb 26:1-9. doi: 10.1080/13813455.2020.1729814. [Epub ahead of print]
    • Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing.
    • Wu H, Wang Q, Guo X, Liu Q, Zhang Q, Huang Q, Yu Z.
    • Hum Hered. 2020 Feb 26:1-10. doi: 10.1159/000505268. [Epub ahead of print]
    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.
    • Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
    • Alvarado M, Tiller GE, Chung J, Haque R.
    • J Community Genet. 2020 Feb 24. doi: 10.1007/s12687-020-00456-6. [Epub ahead of print]
    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
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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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