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    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
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    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
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    • Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
    • Pérez-Ibave DC, Garza-Rodríguez ML, Noriega-Iriondo MF, Flores-Moreno SM, González-Geroniz MI, Espinoza-Velazco A, Castruita-Ávila AL, Alcorta-Núñez F, Zayas-Villanueva OA, González-Guerrero JF, Alcorta-Garza A, Vidal-Gutiérrez O, Burciaga-Flores CH.
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    • MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.
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    • Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
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    • Actionable pathogenic germline variants discovered by panel-based hereditary cancer testing in families with previously identified pathogenic variants. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
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    • The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
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    • The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women.
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    • Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
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    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
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    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
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    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
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    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
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    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
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    • Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
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    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
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    • Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants.
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    • Multigene panel testing might explain the increased risk of secondary malignancies after radiotherapy in Japanese breast cancer patients.
    • Altundag K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):439. doi: 10.1007/s10549-022-06742-w. Epub 2022 Sep 10.

    Related:

    Original research:

    Risk of secondary malignancy after radiotherapy for breast cancer: long-term follow-up of Japanese patients with breast cancer.

    • Hereditary variants of unknown significance in African American women with breast cancer.
    • McDonald JT, Ricks-Santi LJ.
    • PLoS One. 2022 Oct 31;17(10):e0273835. doi: 10.1371/journal.pone.0273835.
    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.
    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.
    • Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
    • Pereira JZ, Carneiro JG, Vieira MS, Valente BM, de Oliveira PZ, Mello CL, de Campos CLV, Gomes KB.
    • Mol Biol Rep. 2022 Oct;49(10):9509-9520. doi: 10.1007/s11033-022-07840-0. Epub 2022 Aug 18.
    • A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
    • Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
    • Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Who Should Have Multigene Germline Testing for Hereditary Cancer?
    • Savage SA.
    • J Clin Oncol. 2022 Sep 27:JCO2201691. doi: 10.1200/JCO.22.01691. Epub ahead of print.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.
    • Culver JO, Freiberg Y, Ricker C, Comeaux JG, Chang EY, Banerjee V, Sturgeon D, Solomon I, Kagey J, Dobre MG, Carey J, Carr A, Cho S, Lu J, Kang IM, Patel K, Terando A, Ye JC, Li M, Lerman C, Spicer D, Nelson M.
    • Ann Surg Oncol. 2022 Sep 26. doi: 10.1245/s10434-022-12595-w. Epub ahead of print.
    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
    • Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
    • Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
    • Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
    • Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F.
    • Exp Mol Pathol. 2022 Sep 20;128:104833. doi: 10.1016/j.yexmp.2022.104833. Epub ahead of print.
    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
    • Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
    • Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
    • Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
    • Panigoro SS, Paramita RI, Siswiandari KM, Fadilah F.
    • Diagnostics (Basel). 2022 Sep 16;12(9):2241. doi: 10.3390/diagnostics12092241.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
    • Paixão D, Torrezan GT, Santiago KM, Formiga MN, Ahuno ST, Dias-Neto E, Tojal da Silva I, Foulkes WD, Polak P, Carraro DM.
    • Front Oncol. 2022 Aug 31;12:976959. doi: 10.3389/fonc.2022.976959.
    • Online Tool IDs People With Genetic Mutations Linked to Cancer.
    • Brooks M.
    • Medscape Oncology. 2022 Aug 30.

    Related:

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
    • Sokolenko AP, Sultanova LV, Stepanov IA, Romanko AA, Venina AR, Sokolova TN, Musayeva HS, Tovgereeva MY, Magomedova MK, Akhmatkhanov KU, Vagapova EI, Suleymanov EA, Vasilyeva EV, Bakaeva EK, Bizin IV, Aleksakhina SN, Imyanitov EN.
    • Cancer Med. 2022 Aug 23. doi: 10.1002/cam4.5159. Epub ahead of print.
    • Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
    • Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D.
    • Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2.
    • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
    • Yurgelun MB, Uno H, Furniss CS, Ukaegbu C, Horiguchi M, Yussuf A, LaDuca H, Chittenden A, Garber JE, Syngal S.
    • J Clin Oncol. 2022 Aug 12:JCO2200120. doi: 10.1200/JCO.22.00120. Epub ahead of print.

    Related:

    Commentary:

    Who Should Have Multigene Germline Testing for Hereditary Cancer?

    Research news: Online Tool IDs People With Genetic Mutations Linked to Cancer. (Medscape Oncology)

    • Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
    • Nunziato M, Di Maggio F, Pensabene M, Esposito MV, Starnone F, De Angelis C, Calabrese A, D'Aiuto M, Botti G, De Placido S, D'Argenio V, Salvatore F.
    • Front Med (Lausanne). 2022 Aug 11;9:894358. doi: 10.3389/fmed.2022.894358.
    • Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
    • Megid TBC, Barros-Filho MC, Pisani JP, Achatz MI.
    • Front Oncol. 2022 Aug 8;12:873395. doi: 10.3389/fonc.2022.873395.
    • Significance of the Multi-gene Panel myRisk in Japan.
    • Hayashi S, Kubo M, Matsuzaki S, Kai M, Morisaki T, Yamada M, Kaneshiro K, Takao Y, Shimazaki A, Nagayoshi K, Mizuuchi Y, Nakamura M.
    • Anticancer Res. 2022 Aug;42(8):4097-4102. doi: 10.21873/anticanres.15907.
    • Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
    • Sutcliffe EG, Mester JL, Susswein LR, Roberts ME, Marshall ML, Hruska KS.
    • Cancer Genet. 2022 Aug;266-267:86-89. doi: 10.1016/j.cancergen.2022.07.004. Epub 2022 Jul 28.
    • Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
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    • Genes (Basel). 2022 Jul 29;13(8):1362. doi: 10.3390/genes13081362.
    • Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.
    • Gifoni ACLVC, Gifoni MAC, Wotroba CM, Palmero EI, Costa ELV, Dos Santos W, Achatz MI.
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    • The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
    • BenAyed-Guerfali D, Kifagi C, BenKridis-Rejeb W, Ammous-Boukhris N, Ayedi W, Khanfir A, Daoud J, Mokdad-Gargouri R.
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    • Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
    • Paduano F, Colao E, Fabiani F, Rocca V, Dinatolo F, Dattola A, D'Antona L, Amato R, Trapasso F, Baudi F, Perrotti N, Iuliano R.
    • Genes (Basel). 2022 Jul 21;13(7):1286. doi: 10.3390/genes13071286.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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    • The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.
    • de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, Minillo RM, de Vasconcelos Carvalho Neto G, Grivicich I, Oliveira JB.
    • Eur J Hum Genet. 2022 Jul;30(7):818-823. doi: 10.1038/s41431-022-01098-7. Epub 2022 May 9.
    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
    • Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K.
    • Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17.
    • Evaluating breast cancer predisposition genes in women of African ancestry.
    • Díaz-Zabala H, Guo X, Ping J, Wen W, Shu XO, Long J, Lipworth L, Li B, Fadden MK, Pal T, Blot WJ, Cai Q, Haiman CA, Palmer JR, Sanderson M, Zheng W.
    • Genet Med. 2022 Jul;24(7):1468-1475. doi: 10.1016/j.gim.2022.03.015. Epub 2022 Apr 8.
    • Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.
    • Evans DGR, van Veen EM, Harkness EF, Brentnall AR, Astley SM, Byers H, Woodward ER, Sampson S, Southworth J, Howell SJ, Maxwell AJ, Newman WG, Cuzick J, Howell A.
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    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
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    • TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
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    Related:

    Commentary:

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

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    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
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    • Association between germline pathogenic variants and breast cancer risk in Japanese women: the HERPACC study.
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    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
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    • Extended gene panel testing in lobular breast cancer.
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    • Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing.
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    • [Article in Chinese]
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    Related:

    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)

    • DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
    • Liu J, Zhao H, Zheng Y, Dong L, Zhao S, Huang Y, Huang S, Qian T, Zou J, Liu S, Li J, Yan Z, Li Y, Zhang S, Huang X, Wang W, Li Y, Wang J, Ming Y, Li X, Xing Z, Qin L, Zhao Z, Jia Z, Li J, Liu G, Zhang M, Feng K, Wu J, Zhang J, Yang Y, Wu Z, Liu Z, Ying J, Wang X, Su J, Wang X, Wu N.
    • Genome Med. 2022 Feb 25;14(1):21. doi: 10.1186/s13073-022-01027-9.
    • Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
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    • Sci Rep. 2022 Feb 21. doi: 10.1038/s41598-022-06376-4. [Epub ahead of print]

    Related:

    Research news: NHS gene testing misses half of people at risk of cancer, study warns. (Sky News)

    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
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    • Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
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    • Update Breast Cancer 2021 Part 4 - Prevention and Early Stages.
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    • 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.
    • 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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    • Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
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    • Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
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    • 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.
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    • Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
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    • 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.
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    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
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    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
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    • Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    • Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C.
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    • 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 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.
    • 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.
    • Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
    • Ece Solmaz A, Yeniay L, Gökmen E, Zekioglu O, Haydaroglu A, Bilgen I, Özkinay F, Onay H.
    • Clin Breast Cancer. 2021 Dec;21(6):e647-e653. doi: 10.1016/j.clbc.2021.04.002. Epub 2021 Apr 12.
    • 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.
    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
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    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Related:

    Dataset description:

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

    • Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
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    • Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
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    • Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
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    • Int J Mol Sci. 2021 Aug 19;22(16):8924. doi: 10.3390/ijms22168924.
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    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
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    • Genetic analysis of functional rare germline variants across 9 cancer types from an electronic health record linked biobank.
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    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
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    • Letter, Comment

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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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    • Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
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    • Lu K, Smith M, Kanderi T, Verbiar J, Laspe J, Bair L, Torp L.
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    • Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
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    • J Med Genet. 2021 Feb 9:jmedgenet-2020-107230. doi: 10.1136/jmedgenet-2020-107230. Epub ahead of print.
    • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
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    • N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

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    Which Genes for Hereditary Breast Cancer?

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

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    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.
    • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ.
    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    Related:

    •• 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)

    • Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
    • Lattimore V, Parsons MT, Spurdle AB, Pearson J, Lehnert K, Sullivan J, Lintott C, Bawden S, Morrin H, Robinson B, Walker L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):583-590. doi: 10.1007/s10549-020-05986-8. Epub 2020 Oct 28.
    • Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
    • Gomes R, Spinola PDS, Brant AC, Matta BP, Nascimento CM, de Aquino Paes SM, Bonvicino CR, Dos Santos ACE, Moreira MAM.
    • Breast Cancer Res Treat. 2021 Feb;185(3):851-861. doi: 10.1007/s10549-020-05985-9. Epub 2020 Oct 30.
    • Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ.
    • Genes Chromosomes Cancer. 2021 Feb;60(2):73-78. doi: 10.1002/gcc.22911. Epub 2020 Nov 10.
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
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    • BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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    • Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150.
    • Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
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    • Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
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    • Hum Mutat. 2020 Dec 16. doi: 10.1002/humu.24158. Epub ahead of print.
    • Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
    • Lovejoy LA, Turner CE, Wells JM, Shriver CD, Ellsworth RE.
    • Genes (Basel). 2020 Dec 8;11(12):E1469. doi: 10.3390/genes11121469.
    • Expanded Panel Testing Uncovered My ATM Mutation.
    • Horton M.
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    • Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
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    • Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
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    • Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
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    • NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.
    • Zanti M, Loizidou MA, Michailidou K, Pirpa P, Machattou C, Marcou Y, Kyriakou F, Kakouri E, Tanteles GA, Spanou E, Spyrou GM, Kyriacou K, Hadjisavvas A.
    • Cancers (Basel). 2020 Oct 27;12(11):3140. doi: 10.3390/cancers12113140.
    • Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.
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    • JNCI Cancer Spectr. 2020 Oct 26;4(6):pkaa094. doi: 10.1093/jncics/pkaa094.
    • Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
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    • Fam Cancer. 2020 Oct 21. doi: 10.1007/s10689-020-00213-1. Epub ahead of print.
    • Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers.
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    • Clin Genet. 2020 Oct 12. doi: 10.1111/cge.13864. Epub ahead of print.
    • Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.
    • Grasel RS, Felicio PS, de Paula AE, Campacci N, Garcia FAO, de Andrade ES, Evangelista AF, Fernandes GC, Sabato CDS, De Marchi P, Souza CP, de Paula CAA, Torrezan GT, Galvão HCR, Carraro DM, Palmero EI.
    • Front Oncol. 2020 Oct 2;10:571330. doi: 10.3389/fonc.2020.571330.
    • Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
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    • Saudi J Biol Sci. 2020 Oct;27(10):2651-2659. doi: 10.1016/j.sjbs.2020.05.047. Epub 2020 Jun 6.
    • Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
    • Barbosa A, Pinto P, Peixoto A, Guerra J, Pinto C, Santos C, Pinheiro M, Escudeiro C, Bartosch C, Silva J, Teixeira MR.
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    • Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
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    • J Clin Med. 2020 Sep 17;9(9):E3003. doi: 10.3390/jcm9093003.
    • RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
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    • Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
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    • J Cancer Res Clin Oncol. 2020 Sep 3. doi: 10.1007/s00432-020-03377-6. Epub ahead of print.
    • Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer - Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
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    • Geburtshilfe Frauenheilkd. 2020 Sep;80(9):932-940. doi: 10.1055/a-1222-0042. Epub 2020 Sep 2.
    • Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
    • Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND.
    • PLoS One. 2020 Aug 31;15(8):e0238295. doi: 10.1371/journal.pone.0238295.
    • Study: Among women with breast cancer, who should have genetic testing for an inherited mutation?
    • [No author given]
    • FORCE. XRAYS. 2020 Aug 27.

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

    • Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.
    • Hu ZY, Liu L, Xie N, Lu J, Liu Z, Tang Y, Wang Y, Yang J, Ouyang Q.
    • Front Genet. 2020 Aug 27;11:829. doi: 10.3389/fgene.2020.00829.
    • Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
    • Fanale D, Incorvaia L, Filorizzo C, Bono M, Fiorino A, Calò V, Brando C, Corsini LR, Barraco N, Badalamenti G, Russo A, Bazan V.
    • Cancers (Basel). 2020 Aug 25;12(9):2415. doi: 10.3390/cancers12092415.
    • Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
    • Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst B, D'Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Neuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL.
    • JCO Precis Oncol. 2020 Aug 19;4:PO.19.00301. doi: 10.1200/PO.19.00301.

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    Research news: Gene Testing for Patients With Breast Cancer and Second Cancer. (Medscape)

    • Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
    • Rogoza-Janiszewska E, Malinska K, Cybulski C, Jakubowska A, Gronwald J, Huzarski T, Lener M, Górski B, Kluzniak W, Rudnicka H, Akbari MR, Kashyap A, Narod SA, Lubinski J, Debniak T, On Behalf Of The Polish Hereditary Breast Cancer Consortium.
    • Cancers (Basel). 2020 Aug 17;12(8):2321. doi: 10.3390/cancers12082321.
    • Streamlining genetic testing for women with ovarian cancer in a Northern California health care system.
    • Powell CB, Laurent C, Ciaravino G, Garcia C, Han L, Hoodfar E, Karlea A, Kobelka C, Lee J, Littell RD, Roh J, Vay A, Kushi LH.
    • Gynecol Oncol. 2020 Aug 7:S0090-8258(20)33662-3. doi: 10.1016/j.ygyno.2020.07.027. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
    • Lacaze P, Sebra R, Riaz M, Tiller J, Revote J, Phung J, Parker EJ, Orchard SG, Lockery JE, Wolfe R, Strahl M, Wang YC, Chen R, Sisco D, Arnold T, Thompson BA, Buchanan DD, Macrae FA, James PA, Abhayaratna WP, Lockett TJ, Gibbs P, Tonkin AM, Nelson MR, Reid CM, Woods RL, Murray AM, Winship I, McNeil JJ, Schadt E.
    • Genet Med. 2020 Jul 1. doi: 10.1038/s41436-020-0881-7. Epub ahead of print.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
    • Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P.
    • J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • 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.
    • 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.
    • 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.

    Related:

    Editorial:

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

    • 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.

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    Original research:

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

    • 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.

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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.

    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.)

    • 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.
    • 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]
    • 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]
    • 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.
    • Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.
    • Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.
    • J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.
    • Gene Panel Testing in Hereditary Breast Cancer.
    • Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH.
    • Arch Iran Med. 2020 Mar 1;23(3):155-162.
    • 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.

    Related:

    Introductory article:

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

    • 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.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djaa023. doi: 10.1093/jnci/djaa023. [Epub ahead of print]
    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]
    • Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
    • da Costa E Silva Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Texeira LA, Plaça JR, Marques AA, Peronni KC, Ruy PC, Molfetta GA, Moriguti JC, Carraro DM, Palmero EI, Ashton-Prolla P, de Faria Ferraz VE, Silva WA Jr.
    • BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y.
    • Routine plasma-based genotyping to comprehensively detect germline, somatic, and reversion BRCA mutations among patients with advanced solid tumors.
    • Vidula N, Rich TA, Sartor O, Yen J, Hardin A, Nance T, Lilly MB, Nezami MA, Patel SP, Carneiro BA, Fan A, Brufksy AM, Parker BA, Bridges BB, Agarwal N, Maughan BL, Raymond VM, Fairclough SR, Lanman RB, Bardia A, Cristofanilli M.
    • Clin Cancer Res. 2020 Feb 7. pii: clincanres.2933.2019. doi: 10.1158/1078-0432.CCR-19-2933. [Epub ahead of print]
    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Wei L, Zheng K, Inoue I, You H.
    • J Hum Genet. 2020 Feb 7. doi: 10.1038/s10038-020-0729-7. [Epub ahead of print]

    Related:

    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

    • Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
    • Shin HC, Lee HB, Yoo TK, Lee ES, Kim RN, Park B, Yoon KA, Park C, Lee ES, Moon HG, Noh DY, Kong SY, Han W.
    • Cancer Res Treat. 2020 Feb 4. doi: 10.4143/crt.2019.559. [Epub ahead of print]
    • Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
    • McVeigh ÚM, McVeigh TP, Curran C, Miller N, Morris DW, Kerin MJ.
    • Ir J Med Sci. 2020 Feb 1. doi: 10.1007/s11845-020-02174-x. [Epub ahead of print]
    • Multigene panel testing results in patients with multiple breast cancer primaries.
    • Corredor J, Woodson AH, Gutierrez Barrera A, Arun B.
    • Breast J. 2020 Jan 30. doi: 10.1111/tbj.13762. [Epub ahead of print]
    • Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
    • Rosenthal SH, Sun W, Zhang , Liu , Nguyen Q, Gerasimova , Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga , Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R.
    • Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020.
    • Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
    • Waltz M, Prince AER, O'Daniel JM, Foreman AKM, Powell BC, Berg JS.
    • J Genet Couns. 2020 Jan 22. doi: 10.1002/jgc4.1219. [Epub ahead of print]
    • Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
    • Zelli V, Compagnoni C, Cannita K, Capelli R, Capalbo C, Di Vito Nolfi M, Alesse E, Zazzeroni F, Tessitore A.
    • High Throughput. 2020 Jan 10;9(1). pii: E1. doi: 10.3390/ht9010001.
    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
    • Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M.
    • Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.
    • Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women.
    • Adedokun B, Zheng Y, Ndom P, Gakwaya A, Makumbi T, Zhou AY, Yoshimatsu TF, Rodriguez A, Madduri RK, Foster IT, Sallam A, Olopade OI, Huo D.
    • Cancer Epidemiol Biomarkers Prev. 2019 Dec 23. pii: cebp.0506.2019. doi: 10.1158/1055-9965.EPI-19-0506. [Epub ahead of print]
    • Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
    • Oliver J, Quezada Urban R, Franco Cortés CA, Díaz Velásquez CE, Montealegre Paez AL, Pacheco-Orozco RA, Castro Rojas C, García-Robles R, López Rivera JJ, Gaitán Chaparro S, Gómez AM, Suarez Obando F, Giraldo G, Maya MI, Hurtado-Villa P, Sanchez AI, Serrano N, Orduz Galvis AI, Aruachan S, Nuñez Castillo J, Frecha C, Riggi C, Jauk F, Gómez García EM, Carranza CL, Zamora V, Torres Mejía G, Romieu I, Castañeda CA, Castillo M, Gitler R, Antoniano A, Rojas Jiménez E, Romero Cruz LE, Vallejo Lecuona F, Delgado Enciso I, Martínez Rizo AB, Flores Carranza A, Benites Godinez V, Méndez Catalá CF, Herrera LA, Chirino Y, Terrazas LI, Perdomo S, Vaca Paniagua F
    • Front Oncol. 2019 Dec 20;9:1429. doi: 10.3389/fonc.2019.01429. eCollection 2019.
    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Related:

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

    • Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
    • Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.
    • J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]

    Related:

    Research news: Study: Racial and ethnic differences in genetic testing among young breast cancer survivors. (FORCE. XRAYS.)

    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
    • Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J.
    • Clin Biochem. 2019 Nov 28. pii: S0009-9120(19)30856-2. doi: 10.1016/j.clinbiochem.2019.11.014. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
    • Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS.
    • Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.
    • Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
    • Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato AG, Palli D, Caligo MA.
    • Breast Cancer Res Treat. 2019 Sep 11. doi: 10.1007/s10549-019-05429-z. [Epub ahead of print]
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Piccinin C, Panchal S, Watkins N, Kim RH.
    • Expert Rev Anticancer Ther. 2019 Aug 30. doi: 10.1080/14737140.2019.1659730. [Epub ahead of print]
    • Review
    • A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
    • Millan Catalan O, Campos-Parra AD, Vázquez-Romo R, Cantú de León D, Jacobo-Herrera N, Morales-González F, López-Camarillo C, Rodríguez-Dorantes M, López-Urrutia E, Pérez-Plasencia C.
    • Cancers (Basel). 2019 Aug 26;11(9). pii: E1246. doi: 10.3390/cancers11091246.
    • Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
    • Cerretini R, Mercado G, Morganstein J, Schiaffi J, Reynoso M, Montoya D, Valdéz R, Narod SA, Akbari MR.
    • Breast Cancer Res Treat. 2019 Aug 24. doi: 10.1007/s10549-019-05411-9. [Epub ahead of print]
    • Germline mutation in DNA-repair genes is associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan Z, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Cancer Sci. 2019 Aug 20. doi: 10.1111/cas.14175. [Epub ahead of print]
    • Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
    • Kraemer D, Azzarello-Burri S, Steindl K, Boonsawat P, Zweier M, Dedes KJ, Joset P, Fink D, Rauch A.
    • Swiss Med Wkly. 2019 Aug 18;149:w20092. doi: 10.4414/smw.2019.20092. eCollection 2019 Aug 12.
    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
    • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
    • Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • The molecular genetic make-up of male breast cancer.
    • Moelans CB, de Ligt J, van der Groep P, Prins P4, Besselink N, Hoogstraat M, Ter Hoeve N, Lacle M, Kornegoor R, van der Pol C, de Leng W, Barbe E, van der Vegt B, Martens J, Bult P, Smits VT, Koudijs M, Nijman I, Voest E, Selenica P, Weigelt B, Reis-Filho J, van der Wall E, Cuppen E, van Diest PJ.
    • Endocr Relat Cancer. 2019 Jul 1. pii: ERC-19-0278. doi: 10.1530/ERC-19-0278. [Epub ahead of print]
    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Related:

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • A study of mechanistic mapping of novel SNPs to male breast cancer.
    • Kaur RP, Kumar V, Shafi G, Vashistha R, Kulharia M, Munshi A.
    • Med Oncol. 2019 Jun 15;36(8):70. doi: 10.1007/s12032-019-1290-0.
    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    • Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
    • The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
    • Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.
    • Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.
    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jun;45:29-35. doi: 10.1016/j.breast.2019.01.002. Epub 2019 Jan 8.
    • Review
    • Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
    • Slavin TP, Coffee B, Bernhisel R, Logan J, Cox HC, Marcucci G, Weitzel J, Neuhausen SL, Mancini-DiNardo D.
    • Cancer Genet. 2019 Jun;235-236:31-38. doi: 10.1016/j.cancergen.2019.04.005. Epub 2019 Apr 13.
    • Genotype-phenotype associations among panel-based TP53+ subjects.
    • Rana HQ, Clifford J, Hoang L, LaDuca H, Helen Black M, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE.
    • Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0541-y. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Related:

    Editorial:

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

    • Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
    • Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P.
    • Gynecol Oncol. 2019 May;153(2):452-462. doi: 10.1016/j.ygyno.2019.01.027. Epub 2019 Feb 4.
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
    • Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
    • Bernstein-Molho R, Singer A, Laitman Y, Netzer I, Zalmanoviz S, Friedman E.
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    Related:

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

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

    Letter:

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

    Letter:

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

    Letter, Reply:

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

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

    Related:

    Original research:

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

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Reply:

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

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    Related:

    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Related:

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Related:

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
    • Reap L, Ahsan S, Saleh M.
    • Clin Breast Cancer. 2018 Aug;18(4):e431-e439. doi: 10.1016/j.clbc.2018.03.015. Epub 2018 Apr 6.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
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    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
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    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

    Related:

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

    Letter, Reply:

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

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
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    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
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    • Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.
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    • J Gynecol Oncol. 2018 Jul;29(4):e43. doi: 10.3802/jgo.2018.29.e43. Epub 2018 Mar 26.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

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

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

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    • Ascertainment Bias and Estimating Penetrance.
    • Sorscher S.
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    Related:

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    • A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
    • Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.
    • Breast. 2018 Apr;38:92-97. doi: 10.1016/j.breast.2017.12.013. Epub 2018 Jan 4.
    • Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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    • Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
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    • J Am Coll Surg. 2018 Apr;226(4):560-565. doi: 10.1016/j.jamcollsurg.2017.12.037. Epub 2018 Jan 31.
    • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
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    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
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    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A5. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
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    • CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.
    • Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
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    • Genet Med. 2018 Feb;20(2):234-239. doi: 10.1038/gim.2017.96. Epub 2017 Jul 27.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
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    • J Am Coll Surg. 2018 Jan 19. pii: S1072-7515(18)30018-8. doi: 10.1016/j.jamcollsurg.2017.12.037. [Epub ahead of print]
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    • Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.
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    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
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    • Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
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    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Related:

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

    Letter:

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

    Letter, Reply:

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

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

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

    • The Multifaceted Experience of Multigene Panel Testing for Breast Cancer.
    • Daly M, Azvolinsky A.
    • OncoTherapy Network. 2017 Dec 1.

    Related:

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    • Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
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    • Breast Cancer Res Treat. 2017 Dec;166(3):937-949. doi: 10.1007/s10549-017-4469-0. Epub 2017 Aug 24.
    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
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    • Case report
    • Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
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    • Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
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    • PLoS One. 2017 Oct 20;12(10):e0186043. doi: 10.1371/journal.pone.0186043. eCollection 2017.
    • Cancer Status Bests Family History for BRCA Testing.
    • Neil Osterweil.
    • Medscape. Conference News. 2017 Oct 19.
    • Expanding the spectrum of germline variants in cancer.
    • Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Al-Badawi IA, Al-Sanea N, Ashari LH, Abduljabbar A, Alhomoud S, Al-Sobhi SS, Tulbah A, Ajarim D, Alzoman K, Aljuboury M, Yousef HB, Al-Dawish M, Al-Dayel F, Alkuraya FS, Al-Kuraya KS.
    • Hum Genet. 2017 Oct 3. doi: 10.1007/s00439-017-1845-0. [Epub ahead of print]
    • Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.
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    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
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    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
    • Pal T, Brzosowicz J, Valladares A, Wiesner GL, Laronga C.
    • South Med J. 2017 Oct;110(10):643-648. doi: 10.14423/SMJ.0000000000000711.
    • The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
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    • PLoS One. 2017 Sep 29;12(9):e0185615. doi: 10.1371/journal.pone.0185615. eCollection 2017.
    • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
    • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K.
    • JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    Related:

    Editorial:

    The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.

    Press: Study Shows More Cancer Mutations Detected by Universal Sequencing. (Clinical Omics)

    Press: Expanding Germline Analyses to Prevent and Treat Cancers. (Medscape)

    • Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
    • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.
    • JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.

    Related:

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    Letter, Comment:

    Ascertainment Bias and Estimating Penetrance.

    Interview, Audio: The Multifaceted Experience of Multigene Panel Testing for Breast Cancer. (OncoTherapy Network)

    • Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
    • Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.
    • Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.
    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
    • Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.
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    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
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    • Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
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    • Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
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    • Oncotarget. 2017 Jul 18;8(29):47064-47075. doi: 10.18632/oncotarget.16791.
    • Outcomes of retesting BRCA negative patients using multigene panels.
    • Yadav S, Reeves A, Campian S, Paine A, Zakalik D.
    • Fam Cancer. 2017 Jul;16(3):319-328. doi: 10.1007/s10689-016-9956-7.
    • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.
    • Marafie MJ, Dashti M, Al-Mulla F.
    • Fam Cancer. 2017 Jul;16(3):389-394. doi: 10.1007/s10689-016-9954-9.
    • Case report
    • Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
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    • Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
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    • Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women.
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    • The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
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    • Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
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    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
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    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
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    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

    Letter:

    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
    • Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL.
    • J Med Genet. 2016 Dec;53(12):800-811. doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

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

    • Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
    • Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.
    • Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.
    • The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
    • Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, Faivre L.
    • Oncotarget. 2016 Oct 15. doi: 10.18632/oncotarget.12699. [Epub ahead of print]
    • Germline Variants of Prostate Cancer in Japanese Families.
    • Hayano T, Matsui H, Nakaoka H, Ohtake N, Hosomichi K, Suzuki K, Inoue I.
    • PLoS One. 2016 Oct 4;11(10):e0164233. doi: 10.1371/journal.pone.0164233. eCollection 2016.
    • Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.
    • Ng PS, Wen WX, Fadlullah MZ, Yoon SY, Lee SY, Thong MK, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2016 Oct;90(4):315-23. doi: 10.1111/cge.12735. Epub 2016 Feb 3.
    • Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
    • Lhota F, Zemankova P, Kleiblova P, Soukupova J, Vocka M, Stranecky V, Janatova M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z.
    • Clin Genet. 2016 Oct;90(4):324-33. doi: 10.1111/cge.12748. Epub 2016 Mar 4.
    • Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.
    • Cobain EF, Milliron KJ, Merajver SD.
    • Semin Oncol. 2016 Oct;43(5):528-535. doi: 10.1053/j.seminoncol.2016.10.001. Epub 2016 Oct 8.
    • Review
    • Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
    • Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC.
    • Cancer Genet. 2016 Sep;209(9):403-407. doi: 10.1016/j.cancergen.2016.08.005. Epub 2016 Aug 15.
    • Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
    • Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.
    • PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016.
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
    • Oncology Nursing News. 2016 Aug 3.
    • Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.
    • Lindor NM, Hopper J, Dowty J.
    • Fam Cancer. 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2.
    • Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
    • Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.
    • Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.
    • Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
    • Kwong A, Shin VY, Au CH, Law FB, Ho DN, Ip BK, Wong AT, Lau SS, To RM, Choy G, Ford JM, Ma ES, Chan TL.
    • J Mol Diagn. 2016 Jul;18(4):580-94. doi: 10.1016/j.jmoldx.2016.03.005. Epub 2016 May 5.
    • Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
    • Mannan AU, Singh J, Lakshmikeshava R, Thota N, Singh S, Sowmya TS, Mishra A, Sinha A, Deshwal S, Soni MR, Chandrasekar A, Ramesh B, Ramamurthy B, Padhi S, Manek P, Ramalingam R, Kapoor S, Ghosh M, Sankaran S, Ghosh A, Veeramachaneni V, Ramamoorthy P, Hariharan R, Subramanian K.
    • J Hum Genet. 2016 Jun;61(6):515-22. doi: 10.1038/jhg.2016.4. Epub 2016 Feb 25.

    Related:

    Letter

    Estimating risk using multi-gene panel testing; do negative results change the risk?

    • Multigene testing of moderate-risk genes: be mindful of the missense.
    • Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J; Breast Cancer Family Registry, Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV.
    • J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19.
    • Panel Testing Is Not a Panacea.
    • Axilbund JE.
    • J Clin Oncol. 2016 May 1;34(13):1433-5. doi: 10.1200/JCO.2015.65.5522. Epub 2016 Mar 14.

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    Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?

    • Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
    • Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.
    • J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    Subject: Article request

    Press: Caution Urged in Interpreting Breast Cancer Gene Panels at Individual Level (Medscape/Reuters)

    • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

    Related:

    Letter

    Next-Generation Sequencing of Tumors to Better Estimate the Clinical Significance of Non-BRCA Germline Deleterious Mutations.

    • Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
    • Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.
    • Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.
    • Inherited Mutations in Women With Ovarian Carcinoma.
    • Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.
    • JAMA Oncol. 2016 Apr 1;2(4):482-490. doi: 10.1001/jamaoncol.2015.5495.

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    Commentary

    Germline Sequence Variants and Ovarian Cancer: Known-Knowns and Known-Unknowns.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    • Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.
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    • Breast Cancer Res Treat. 2016 Apr;156(3):507-15. doi: 10.1007/s10549-016-3792-1. Epub 2016 Apr 15.
    • Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
    • Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, Norton L, Hudis C, Klein RJ, Kauff ND, Robson M, Stadler ZK, Haber DA, Lipkin SM, Friedman E, Foulkes WD, Altshuler D, Vijai J, Offit K.
    • J Clin Oncol. 2016 Mar 10;34(8):e61-7. doi: 10.1200/JCO.2013.50.0272. Epub 2014 Jun 30.
    • Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
    • Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.
    • Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.
    • Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
    • Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, Wang MY, Liu CY, Cheng FT, Yeh MH, Li HY, Yang YH, Hsu YH, Fan SC, Li LY, Yu SL, Chang KJ, Chen PL, Ni YH, Huang CS.
    • Oncotarget. 2016 Feb 16;7(7):8310-20. doi: 10.18632/oncotarget.7027.
    • Genetic characterization of early onset ovarian carcinoma.
    • Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM.
    • Gynecol Oncol. 2016 Feb;140(2):221-225. doi: 10.1016/j.ygyno.2015.12.017. Epub 2015 Dec 21.
    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • GENESIS: a French national resource to study the missing heritability of breast cancer.
    • Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.
    • BMC Cancer. 2016 Jan 12;16(1):13. doi: 10.1186/s12885-015-2028-9.
    • Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
    • Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.
    • Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
    • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
    • Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators, Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G.
    • J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3.
    • [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
    • Macháčková E, Hazova J, Sťahlová Hrabincová E, Vašíčková P, Navrátilová M, Svoboda M, Foretová L.
    • Klin Onkol. 2015 Winter;29 Suppl 1:35-45.
    • [Article in Czech]
    • Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Lerner-Ellis J, Khalouei S, Sopik V, Narod SA.
    • Expert Rev Anticancer Ther. 2015 Nov;15(11):1315-26. doi: 10.1586/14737140.2015.1090879. Epub 2015 Nov 2.
    • Review
    • Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.
    • Frey MK, Kim SH, Bassett RY, Martineau J, Dalton E, Chern JY, Blank SV.
    • Gynecol Oncol. 2015 Nov;139(2):211-215. doi: 10.1016/j.ygyno.2015.08.006. Epub 2015 Aug 18.
    • Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
    • Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium, Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv214. doi: 10.1093/jnci/djv214. Print 2015 Nov;.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRIP1 Mutation

    Subject: Register for the November Cancer SIG Journal Club

    Subject: searching for BRIP1 article

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

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

    • BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic?
    • Balmaña J, Domchek SM.
    • J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv262. doi: 10.1093/jnci/djv262. Print 2015 Nov;.
    • Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
    • Howarth DR, Lum SS, Esquivel P, Garberoglio CA, Senthil M, Solomon NL.
    • Am Surg. 2015 Oct;81(10):941-4.
    • Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
    • Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, Banks KC.
    • Ann Surg Oncol. 2015 Oct;22(10):3282-8. doi: 10.1245/s10434-015-4754-2. Epub 2015 Jul 29.
    • Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.
    • Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.
    • Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. eCollection 2015.
    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
    • Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.
    • Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.
    • A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.
    • Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW.
    • J Mol Diagn. 2015 Sep;17(5):533-44. doi: 10.1016/j.jmoldx.2015.04.009. Epub 2015 Jul 22.
    • Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Oyama T, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Sep;3(5):459-66. doi: 10.1002/mgg3.157. Epub 2015 May 12.
    • Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
    • Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL.
    • Genet Med. 2015 Aug;17(8):630-638. doi: 10.1038/gim.2014.176. Epub 2014 Dec 11.
    • Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.
    • Domagala P, Jakubowska A, Jaworska-Bieniek K, Kaczmarek K, Durda K, Kurlapska A, Cybulski C, Lubinski J.
    • PLoS One. 2015 Jun 17;10(6):e0130393. doi: 10.1371/journal.pone.0130393.
    • DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.
    • Ollier M, Radosevic-Robin N, Kwiatkowski F, Ponelle F, Viala S, Privat M, Uhrhammer N, Bernard-Gallon D, Penault-Llorca F, Bignon YJ, Bidet Y.
    • Am J Cancer Res. 2015 Jun 15;5(7):2113-26. eCollection 2015.
    • Curating the Way to Better Determinants of Genetic Risk.
    • Phimister EG.
    • N Engl J Med. 2015 Jun 4;372(23):2227-2228. Epub 2015 May 27.
    • Editorial / Commentary
    • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.
    • Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.
    • N Engl J Med. 2015 Jun 4;372(23):2243-2257. Epub 2015 May 27.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Excellent review paper in NEJM

    Comment / Letter

    ClinGen and Genetic Testing.

    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer.
    • Aloraifi F, Boland MR, Green AJ, Geraghty JG.
    • Surg Oncol. 2015 Jun;24(2):100-9. doi: 10.1016/j.suronc.2015.04.003. Epub 2015 Apr 13.
    • Review
    • New Study on 'Very Hot Topic' in BRCA Testing.
    • Roxanne Nelson.
    • Medscape Medical News. American Society of Breast Surgeons (ASBS) 16th Annual Meeting. 2015 May 4.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • DNA repair mutations and outcomes in ovarian cancer--letter.
    • Soslow RA.
    • Clin Cancer Res. 2015 Feb 1;21(3):658. doi: 10.1158/1078-0432.CCR-14-2436.

    Related:

    Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

    Comment / Letter

    DNA repair mutations and outcomes in ovarian cancer--response.

    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Related:

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
    • Baker JL, Schwab RB, Wallace AM, Madlensky L.
    • Clin Breast Cancer. 2015 Feb;15(1):e71-5. doi: 10.1016/j.clbc.2014.08.005. Epub 2014 Sep 23.
    • Case Report, Review
    • Genetic risk assessment for breast and gynecological malignancies.
    • Profato JL, Arun BK.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):1-5. doi: 10.1097/GCO.0000000000000142.
    • Review
    • Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
    • Kurian AW, Kingham KE, Ford JM.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):23-33. doi: 10.1097/GCO.0000000000000141.
    • Review
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
    • Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman A.
    • Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Slides/Data from NSGC

    • Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
    • Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.
    • Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.
    • Inherited predisposition to breast cancer among African American women.
    • Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI.
    • Breast Cancer Res Treat. 2015 Jan;149(1):31-9. doi: 10.1007/s10549-014-3195-0. Epub 2014 Nov 27.
    • Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
    • Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
    • EBioMedicine. 2015 Jan;2(1):74-81.
    • Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.
    • Rajkumar T, Meenakumari B, Mani S, Sridevi V, Sundersingh S.
    • Asian Pac J Cancer Prev. 2015;16(13):5211-7.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion L, Dolinsky J, Chao E, Monk B.
    • Gynecologic Oncology. 2014 Nov;135(2):383-4. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.012.
    • Conference abstract
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Related:

    Comment, Editorial:

    Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.

    Related:

    Press: Multiple-Gene Sequencing Panel Assesses Hereditary Cancer Risk. (Medscape/Reuters)

    Press: Study Supports Clinical Utility of Gene Panel Sequencing Approach. (GenomeWeb)

    Blog post: Gene panel screens dozens of genes for cancer-associated mutations. (ScienceBlog)

    • Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
    • Wen H, Kim YC, Snyder C, Xiao F, Fleissner EA, Becirovic D, Luo J, Downs B, Sherman S, Cowan KH, Lynch HT, Wang SM.
    • BMC Cancer. 2014 Jun 26;14:470. doi: 10.1186/1471-2407-14-470.
    • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
    • Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM.
    • Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 and Ovarian Cancer

    Comment, Letter

    DNA repair mutations and outcomes in ovarian cancer--letter.

    Reply, Letter

    DNA repair mutations and outcomes in ovarian cancer--response.

    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
    • Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.
    • BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.
    • Gene Panel Spots Mutations Other Breast Cancer Test Misses.
    • Neil Osterweil.
    • Medscape Medical News. Conference News. American Society of Human Genetics (ASHG) 63rd Annual Meeting. 2013 Oct 25.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • PALB2 and breast cancer: ready for clinical translation!
    • Southey MC, Teo ZL, Winship I.
    • Appl Clin Genet. 2013 Jul 19;6:43-52. doi: 10.2147/TACG.S34116. Print 2013.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Genetic breast cancer risk among black populations.
    • Philippa Brice.
    • PHG Foundation. 2013 Jun 4.
    • Mutations in susceptibility genes common in younger African American women with breast cancer.
    • John Easton.
    • EurekAlert!. 2013 Jun 3.
    • Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.
    • Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J.
    • PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
    • Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.
    • PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

    Related:

    Comment:

    Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.

    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed