Category: Genetic Testing

• The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
• Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
• BJOG. 2021 Oct 17. doi: 10.1111/1471-0528.16975. Epub ahead of print

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• Prevalence and Clinical Characterization of BRCA1 and BRCA2 Mutations in Korean Patients with Epithelial Ovarian Cancer.
• Paik ES, Heo EJ, Choi CH, Kim JH, Kim JW, Kim YM, Park SY, Lee JW, Kim JW, Kim BG.
• Cancer Sci. 2021 Oct 17. doi: 10.1111/cas.15166. Epub ahead of print.

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• ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
• Mittal A, Pramanik R.
• Ann Surg Oncol. 2021 Oct 15. doi: 10.1245/s10434-021-10880-8. Epub ahead of print.

• PMID: 34654988
• PubMed abstract

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• Inherited Mutations in Chinese Men With Prostate Cancer.
• Zhu Y, Wei Y, Zeng H, Li Y, Ng CF, Zhou F, He C, Sun G, Ni Y, Chiu PKF, Teoh JYC, Wang B, Pan J, Wan F, Dai B, Qin X, Lin G, Gan H, Wu J, Ye D.
• J Natl Compr Canc Netw. 2021 Oct 15:1-9. doi: 10.6004/jnccn.2021.7010. Epub ahead of print.

• PMID: 34653963
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• Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
• Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI.
• Eur Urol Oncol. 2021 Oct 12:S2588-9311(21)00180-2. doi: 10.1016/j.euo.2021.09.005. Epub ahead of print.

• PMID: 34654685
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• Somatic mosaics in hereditary tumor predisposition syndromes.
• Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KBM.
• Eur J Med Genet. 2021 Oct 13;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub ahead of print.

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• Genotype-Cancer Association in Patients with Fanconi Anemia due to Pathogenic Variants in FANCD1 (BRCA2) or FANCN (PALB2).
• McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP.
• Cancer Genet. 2021 Oct 4. doi: 10.1016/j.cancergen.2021.10.001. Epub ahead of print.

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• The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
• Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
• Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.

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• Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
• Wang Y, Golesworthy B, Cuggia A, Domecq C, Chaudhury P, Barkun J, Metrakos P, Asselah J, Bouganim N, Gao ZH, Chong G, Foulkes WD, Zogopoulos G.
• J Med Genet. 2021 Sep 23:jmedgenet-2021-108054. doi: 10.1136/jmedgenet-2021-108054. Epub ahead of print.

• PMID: 34556502
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• Management of breast cancer patients with BRCA gene mutations in Lebanon of the Middle East: perspectives and challenges.
• El Saghir NS, Ghanem H, El Karak F, Farhat F, Ghosn M, Makdessi J, Chouaib K, Debs J, Tabchy AB.
• Hosp Pract (1995). 2021 Sep 22:1-5. doi: 10.1080/21548331.2021.1974678. Epub ahead of print.

• PMID: 34547975
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• Commentary

• Genetic testing in women with early-onset breast cancer: a Traceback pilot study.
• Augustinsson A, Nilsson MP, Ellberg C, Kristoffersson U, Olsson H, Ehrencrona H.
• Breast Cancer Res Treat. 2021 Sep 16. doi: 10.1007/s10549-021-06351-z. Epub ahead of print.

• PMID: 34529195
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• Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women.
• Yiangou K, Kyriacou K, Kakouri E, Marcou Y, Panayiotidis MI, Loizidou MA, Hadjisavvas A, Michailidou K.
• Cancers (Basel). 2021 Sep 11;13(18):4568. doi: 10.3390/cancers13184568.

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• Association of Population Screening for Breast Cancer Risk With Use of Mammography Among Women in Medically Underserved Racial and Ethnic Minority Groups.
• Schwartz C, Chukwudozie IB, Tejeda S, Vijayasiri G, Abraham I, Remo M, Shah HA, Rojas M, Carillo A, Moreno L, Warnecke RP, Hoskins KF.
• JAMA Netw Open. 2021 Sep 10;4(9):e2123751. doi: 10.1001/jamanetworkopen.2021.23751.

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Related:

Commentary:

Practice-Changing Opportunity to Reduce Disparities in Screening Mammography—Implementation of Risk Assessment in Primary Care.

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• Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD.
• Hodgson D, Lai Z, Dearden S, Barrett JC, Harrington EA, Timms K, Lanchbury J, Wu W, Allen A, Senkus E, Domchek SM, Robson M.
• Ann Oncol. 2021 Sep 6:S0923-7534(21)04458-6. doi: 10.1016/j.annonc.2021.08.2154. Epub ahead of print.

• PMID: 34500047
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• Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
• Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
• Cancers (Basel). 2021 Aug 24;13(17):4259. doi: 10.3390/cancers13174259.

• PMID: 34503069
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• Conference report
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• Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
• Tung N, Desai N.
• J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

• PMID: 34491781
• PubMed abstract

• Commentary, Research news
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Related:

Original research:

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

• PMID: 34292776
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Original research:

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

• PMID: 32125938
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• Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
• Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
• Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.

• PMID: 34477817
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• Hereditary pancreatic cancer.
• Abe K, Kitago M, Kitagawa Y, Hirasawa A.
• Int J Clin Oncol. 2021 Sep 2. doi: 10.1007/s10147-021-02015-6. Epub ahead of print.

• PMID: 34476650
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• Review
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• Genetic testing in patients with triple-negative or hereditary breast cancer.
• Bernstein-Molho R, Evron E, Yerushalmi R, Paluch-Shimon S.
• Curr Opin Oncol. 2021 Sep 1. doi: 10.1097/CCO.0000000000000784. Epub ahead of print.

• PMID: 34474437
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• Review

• Pretest Genetic Education Video Versus Genetic Counseling for Men Considering Prostate Cancer Germline Testing: A Patient-Choice Study to Address Urgent Practice Needs.
• Russo J, McDougall C, Bowler N, Shimada A, Gross L, Hyatt C, Kelly WK, Calvaresi A, Handley NR, Hirsch IH, Izes JK, Lallas CD, Mann M, Mark JR, Mille PJ, Preate Jr D, Trabulsi EJ, Tsang M, Chandrasekar T, Weiner PR, Gomella LG, Giri VN.
• JCO Precis Oncol. 2021;5:1377. doi: 10.1200/PO.21.00238. Epub 2021 Sep 1.

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• Cascade Genetic Testing for Hereditary Cancer Risk: An Underutilized Tool for Cancer Prevention.
• Whitaker KD, Obeid E, Daly MB, Hall MJ.
• JCO Precis Oncol. 2021;5:1387. doi: 10.1200/PO.21.00163. Epub 2021 Sep 1.

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• Review

• Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
• Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
• Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.

• PMID: 34487234
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• Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
• Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
• Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.

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• Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
• Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
• Breast Cancer. 2021 Aug 31. doi: 10.1007/s12282-021-01283-4. Epub ahead of print.

• PMID: 34467476
• PubMed abstract
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• Genetic predisposition to male breast cancer in Poland.
• Szwiec M, Tomiczek-Szwiec J, Kluzniak W, Wokolorczyk D, Osowiecka K, Sibilski R, Wachowiak M, Gronwald J, Gronwald H, Lubinski J, Cybulski C, Narod SA, Huzarski T.
• BMC Cancer. 2021 Aug 30;21(1):975. doi: 10.1186/s12885-021-08718-3.

• PMID: 34461861
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