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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.
- Genes (Basel). 2023 Jan 28;14(2):341. doi: 10.3390/genes14020341.
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- Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
- Díaz Velásquez CE, Gitler R, Antoniano A, Kershenovich Sefchovich R, De La Cruz Montoya A, Martínez Gregorio H, Rojas Jiménez EA, Cortez Cardoso Penha R, Terrazas LI, Wegman-Ostrosky T, Levi-Lahad E, Zabaleta J, Perdomo S, Paniagua FV.
- Front Genet. 2023 Jan 24;14:1094260. doi: 10.3389/fgene.2023.1094260.
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- Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
- Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
- Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.
- Meta-Analysis
- Free Full Text
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- Variations in Practice and Geographic Disparities Between Dedicated Multidisciplinary Clinics for BRCA1/BRCA2 Mutation Carriers in Israel.
- Hermann N, Mor P, Kaidar-Person O, Bernstein-Molho R, Brodsky M, Madorsky Feldman D, Flugelman AA, Aboody Nevo H, Meshoulam Avital D, Sklair-Levy M, Friedman E, Allweis TM.
- Isr Med Assoc J. 2023 Jan;25(1):18-22.
- PMID: 36718731
- PubMed abstract
- Source abstract
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- Outcomes of Universal Point-of-Care Genetic Testing in Diverse Patients With Pancreatic Ductal Adenocarcinoma.
- Drogan CM, Kindler HL, Gao G, Kupfer SS.
- JCO Precis Oncol. 2023 Jan;7:e2200196. doi: 10.1200/PO.22.00196.
- PMID: 36689696
- PubMed abstract
- Source abstract
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- Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
- Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
- Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.
- PMID: 36544278
- PubMed abstract
- Source abstract
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- Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies.
- Michaelson-Cohen R, Cohen MJ, Cohen C, Greenberg D, Shmueli A, Lieberman S, Tomer A, Levy-Lahad E, Lahad A.
- Cancers (Basel). 2022 Dec 12;14(24):6113. doi: 10.3390/cancers14246113.
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- Non-parametric estimation of the age-at-onset distribution from a cross-sectional sample.
- Mandal S, Qin J, Pfeiffer RM.
- Biometrics. 2022 Dec 5. doi: 10.1111/biom.13804. Epub ahead of print.
- PMID: 36471903
- PubMed abstract
- Source abstract
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- Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
- Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
- Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. Epub ahead of print.
- PMID: 36434258
- PubMed abstract
- Source abstract
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- The Genetics of Pancreatic Cancer
- [No author given]
- My Gene Counsel. Genetic Journal. 2022 Nov 14.
- Blog post
- Free Full Text
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- Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
- Abdallah N, Purrington KS, Tatineni S, Assad H, Petrucelli N, Simon MS.
- Cancer Causes Control. 2022 Nov 12. doi: 10.1007/s10552-022-01648-w. Epub ahead of print.
- PMID: 36370215
- PubMed abstract
- Source abstract
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- Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
- Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
- JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.
- PMID: 36370464
- PubMed abstract
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- Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants.
- Liu YL, Maio A, Kemel Y, Salo-Mullen EE, Sheehan M, Tejada PR, Trottier M, Arnold AG, Fleischut MH, Latham A, Carlo MI, Murciano-Goroff YR, Walsh MF, Mandelker D, Mehta N, Bandlamudi C, Arora K, Zehir A, Berger MF, Solit DB, Aghajanian C, Diaz LA Jr, Robson ME, Brown CL, Offit K, Hamilton JG, Stadler ZK.
- Cancer. 2022 Nov 1;128(21):3870-3879. doi: 10.1002/cncr.34434. Epub 2022 Aug 30.
- PMID: 36041233
- PubMed abstract
- Source abstract
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- From the patient to the population: Use of genomics for population screening.
- Mighton C, Shickh S, Aguda V, Krishnapillai S, Adi-Wauran E, Bombard Y.
- Front Genet. 2022 Oct 24;13:893832. doi: 10.3389/fgene.2022.893832.
- PMID: 36353115
- PubMed abstract
- Review
- Free PMC article
- Free Full Text
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- Contribution of BRCA1 5382insC mutation to triplene-gative and luminal types of breast cancer in Ukraine.
- Samusieva A, Serga S, Klymenko S, Rybchenko L, Klimuk B, Zakhartseva L, Gorovenko N, Lobanova O, Rossokha Z, Fishchuk L, Levkovich N, Medvedieva N, Popova O, Cheshuk V, Inomistova M, Khranovska N, Skachkova O, Michailovich Y, Ponomarova O, Kozeretska I.
- Breast Cancer Res Treat. 2022 Oct;195(3):453-459. doi: 10.1007/s10549-022-06692-3. Epub 2022 Aug 5.
- PMID: 35930098
- PubMed abstract
- Source abstract
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- Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy.
- Ghose A, Bolina A, Mahajan I, Raza SA, Clarke M, Pal A, Sanchez E, Rallis KS, Boussios S.
- Int J Environ Res Public Health. 2022 Sep 23;19(19):12057. doi: 10.3390/ijerph191912057.
- PMID: 36231355
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- Getting Past the Shock of a Previvor Diagnosis and Making a Plan.
- Swirsky N.
- FORCE. Blog. 2022 Sep 21.
- Blog post
- Free Full Text
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- Primary care physician referral practices regarding BRCA1/2 genetic counseling in a major health system.
- Linfield DT, Rothberg MB, Pfoh ER, Noss R, Cassard L, Powers JC, Lipold L, Martinez KA.
- Breast Cancer Res Treat. 2022 Sep;195(2):153-160. doi: 10.1007/s10549-022-06523-5. Epub 2022 Jul 16.
- PMID: 35842521
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35971132
- PubMed abstract
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- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
- Jankowski M, Daca-Roszak P, Obracht-Prondzynski C, Ploski R, Lipska-Zietkiewicz BS, Zietkiewicz E.
- J Appl Genet. 2022 Aug 15. doi: 10.1007/s13353-022-00713-z. Epub ahead of print.
- PMID: 35971028
- PubMed abstract
- Review
- Free Full Text
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- Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
- Rose E, Hardy MW, Gates R, Stanislaw C, Meisel J, Grinzaid KA.
- Public Health Genomics. 2022 Aug 9:1-14. doi: 10.1159/000525658. Epub ahead of print.
- PMID: 35944511
- PubMed abstract
- Source abstract
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- Randomised trial of population based BRCA testing in Ashkenazi Jews: Long term secondary lifestyle behavioural outcomes.
- Burnell M, Gaba F, Sobocan M, Desai R, Sanderson S, Loggenberg K, Gessler S, Side L, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R.
- BJOG. 2022 Jul 4. doi: 10.1111/1471-0528.17253. Epub ahead of print.
- PMID: 35781768
- PubMed abstract
- Source abstract
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- Genetic testing in prostate cancer management: Considerations informing primary care.
- Giri VN, Morgan TM, Morris DS, Berchuck JE, Hyatt C, Taplin ME.
- CA Cancer J Clin. 2022 Jul;72(4):360-371. doi: 10.3322/caac.21720. Epub 2022 Feb 24.
- PMID: 35201622
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.
- Laitman Y, Nielsen SM, Hatchell KE, Truty R, Bernstein-Molho R, Esplin ED, Friedman E.
- Fam Cancer. 2022 Jul;21(3):305-308. doi: 10.1007/s10689-021-00278-6. Epub 2021 Oct 8.
- PMID: 34622392
- PubMed abstract
- Source abstract
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- Breast Cancer with Low Recurrence Score on Oncotype DX©: Interplay Between Early Recurrence, Lobular Histology and BRCA Mutation.
- Zarbiv Y, Wygoda YB, Grinshpun A, Hamburger T, Sella T, Breuer S, Maimon O, Rottenberg Y, Peretz T, Kadouri L.
- Oncol Ther. 2022 Jun 25. doi: 10.1007/s40487-022-00202-7. Epub ahead of print.
- PMID: 35751801
- PubMed abstract
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- Not All Genetic Tests are Created Equal.
- Cline M, Holdren J.
- FORCE. Blog. 2022 Jun 14.
- Blog post
- Free Full Text
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- Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
- Tiller JM, Cousens NE, Kaur R, Rowley S, Ko YA, Mahale S, Bankier A, Meiser B, Barlow-Stewart K, Burnett L, Jacobs C, James P, Trainer A, Neil S, Campbell IG, Andrews L, Delatycki M.
- J Med Genet. 2022 Jun 3:jmedgenet-2022-108519. doi: 10.1136/jmedgenet-2022-108519. Epub ahead of print.
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- Brain metastases in patients with ovarian cancer.
- Limon D, Shachar E, Wolf I, Adar L, Peleg Hasson S, Ferro L, Safra T.
- Acta Oncol. 2022 Jun;61(6):757-763. doi: 10.1080/0284186X.2022.2066985. Epub 2022 Apr 29.
- PMID: 35485453
- PubMed abstract
- Source abstract
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- Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
- Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study.
- Genet Med. 2022 Jun;24(6):1196-1205. doi: 10.1016/j.gim.2022.02.006. Epub 2022 Mar 16.
- PMID: 35305866
- PubMed abstract
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- Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.
- Hardy MW, Peshkin BN, Rose E, Ladd MK, Binion S, Tynan M, McBride CM, Grinzaid KA, Schwartz MD.
- J Community Genet. 2022 Jun;13(3):281-292. doi: 10.1007/s12687-022-00590-3. Epub 2022 Apr 29.
- PMID: 35486291
- PubMed abstract
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- Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study.
- Pace LE, Tung N, Lee YS, Hamilton JG, Gabriel C, Revette A, Raja S, Jenkins C, Braswell A, Morgan K, Levin J, Block J, Domchek SM, Nathanson K, Symecko H, Spielman K, Karlan B, Kamara D, Lester J, Offit K, Garber JE, Keating NL.
- J Gen Intern Med. 2022 Jun;37(8):1862-1869. doi: 10.1007/s11606-021-06970-8. Epub 2021 Jun 25.
- PMID: 34173196
- PubMed abstract
- Source abstract
Identifier: NCT03351803: BRCA Founder OutReach (BFOR) Study. (ClinicalTrials.gov)
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- Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants.
- Castillo C, Artagaveytia N, Brignoni L, Laitman Y, Camejo N, Hernández AL, Krygier G, Cayota A, Delgado L, Friedman E.
- Mol Genet Genomic Med. 2022 Jun;10(6):e1928. doi: 10.1002/mgg3.1928. Epub 2022 Mar 25.
- PMID: 35332707
- PubMed abstract
- Source abstract
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- Jewish cultural and religious factors and uptake of population-based BRCA testing across denominations: a cohort study.
- Reisel D, Burnell M, Side L, Loggenberg K, Gessler S, Desai R, Sanderson S, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R.
- BJOG. 2022 May;129(6):959-968. doi: 10.1111/1471-0528.16994. Epub 2021 Nov 25.
- PMID: 34758513
- PubMed abstract
- Source abstract
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- Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
- Lieberman S, Chen-Shtoyerman R, Levi Z, Shkedi-Rafid S, Zuckerman S, Bernstein-Molho R, Levi GR, Shachar SS, Flugelman A, Libman V, Kedar I, Naftaly-Nathan S, Lagovsky I, Peretz T, Karminsky N, Carmi S, Levy-Lahad E, Goldberg Y.
- Breast Cancer Res Treat. 2022 May;193(1):217-224. doi: 10.1007/s10549-022-06557-9. Epub 2022 Mar 12.
- PMID: 35278150
- PubMed abstract
- Source abstract
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- Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
- Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
- Int J Oncol. 2022 May;60(5):58. doi: 10.3892/ijo.2022.5349. Epub 2022 Apr 6.
- PMID: 35383859
- PubMed abstract
- Source abstract
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- Not All Genetic Tests are Created Equal.
- Cline M, Holdren J.
- BRCA Exchange. 2022 Apr 14.
- Blog post
- Free Full Text
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- Partner Spotlight: Sharsheret.
- Montoto R.
- FORCE. Blog. 2022 Apr 8.
- Blog post
- Free Full Text
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- Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.
- Frey MK, Finch A, Kulkarni A, Akbari MR, Chapman-Davis E.
- Am Soc Clin Oncol Educ Book. 2022 Apr;42:1-12. doi: 10.1200/EDBK_350292.
- PMID: 35452249
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis.
- Nyberg T, Tischkowitz M, Antoniou AC.
- Br J Cancer. 2022 Apr;126(7):1067-1081. doi: 10.1038/s41416-021-01675-5. Epub 2021 Dec 28.
- PMID: 34963702
- PubMed abstract
- Meta-Analysis. Review.
- Free Full Text
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- Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
- Ludman MD, Philipsborn SL, Hartmajer S, Shwartzman NS, Reinstein E.
- Fam Cancer. 2022 Apr;21(2):121-123. doi: 10.1007/s10689-021-00255-z. Epub 2022 Feb 15.
- PMID: 35166990
- PubMed abstract
- Source abstract
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- CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
- Adib E, El Zarif T, Nassar AH, Akl EW, Abou Alaiwi S, Mouhieddine TH, Esplin ED, Hatchell K, Nielsen SM, Rana HQ, Choueiri TK, Kwiatkowski DJ, Sonpavde G.
- Br J Cancer. 2022 Mar;126(5):797-803. doi: 10.1038/s41416-021-01673-7. Epub 2021 Dec 23.
- PMID: 34949788
- PubMed abstract
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- Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
- Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
- Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
- PMID: 35040284
- PubMed abstract
- Source abstract
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- The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.
- Finch A, Metcalfe K, Akbari M, Friedman E, Tung N, Rosen B, Eisen A, Karlan B, Foulkes W, Neuhausen SL, Senter L, McKinnon W, Elser C, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
- Clin Genet. 2022 Mar;101(3):317-323. doi: 10.1111/cge.14098. Epub 2022 Jan 26.
- PMID: 34897671
- PubMed abstract
- Source abstract
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- Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.
- Morgan KM, Hamilton JG, Symecko H, Kamara D, Jenkins C, Lester J, Spielman K, Pace LE, Gabriel C, Levin JD, Tejada PR, Braswell A, Marcell V, Wildman T, Devolder B, Baum RC, Block JN, Fesko Y, Boehler K, Howell V, Heitler J, Robson ME, Nathanson KL, Tung N, Karlan BY, Domchek SM, Garber JE, Offit K.
- Genet Med. 2022 Mar;24(3):564-575. doi: 10.1016/j.gim.2021.10.016. Epub 2021 Dec 3.
- PMID: 34906490
- PubMed abstract
- Source abstract
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- Genetic predisposition to prostate cancer: an update.
- Ni Raghallaigh H, Eeles R.
- Fam Cancer. 2022 Jan;21(1):101-114. doi: 10.1007/s10689-021-00227-3. Epub 2021 Jan 24.
- PMID: 33486571
- PubMed abstract
- Review
- Source abstract
- Free Full Text
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- Can Social Media Be Used as a Community-Building and Support Tool among Jewish Women Impacted by Breast and Ovarian Cancer? An Evidence-Based Observational Report.
- Dunn C, Campbell S, Marku N, Fleischmann A, Silber E, Rosen M, Tercyak KP.
- Healthcare (Basel). 2021 Dec 28;10(1):51. doi: 10.3390/healthcare10010051.
- PMID: 35052215
- PubMed abstract
- Source abstract
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- Conference Session Highlight: I'm Not White, Can I Still Have a Mutation?
- Stallings E, Goldberg D.
- FORCE. Blog. 2021 Nov 19.
- Blog post
- Free Full Text
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- Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer.
- McNevin CS, Cadoo K, Baird AM, Murchan P, Sheils O, McDermott R, Finn S.
- Cancers (Basel). 2021 Nov 14;13(22):5697. doi: 10.3390/cancers13225697.
- PMID: 34830851
- PubMed abstract
- Source abstract
- Review
- Free PMC article
- Free Full Text
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- Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
- Bernstein-Molho R, Galmor L, Laitman Y, Segev S, Friedman E.
- Cancer. 2021 Oct 1;127(19):3599-3604. doi: 10.1002/cncr.33560. Epub 2021 Jun 22.
- PMID: 34157778
- PubMed abstract
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- Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
- Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
- J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
- PMID: 33146377
- PubMed abstract
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- Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis.
- Dossa F, Metcalfe K, Sutradhar R, Little T, Eisen A, Chun K, Meschino WS, Velsher L, Ellis JL, Baxter NN.
- CMAJ Open. 2021 Sep 21;9(3):E874-E885. doi: 10.9778/cmajo.20200228.
- PMID: 34870614
- PubMed abstract
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- The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
- Evans DG, van Veen EM, Byers H, Roberts E, Howell A, Howell SJ, Harkness EF, Brentnall A, Cuzick J, Newman WG.
- Int J Cancer. 2021 Aug 30. doi: 10.1002/ijc.33782. Epub ahead of print.
- PMID: 34460111
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- Preventive population genomics: The model of BRCA related cancers.
- Reisel D, Baran C, Manchanda R.
- Adv Genet. 2021;108:1-33. doi: 10.1016/bs.adgen.2021.08.001. Epub 2021 Aug 26.
- PMID: 34844711
- PubMed abstract
- Source abstract
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- A rare case of breast cancer in a transgender woman.
- Sieberg R, Soriano K, Zuurbier R.
- Radiol Case Rep. 2021 Aug 26;16(11):3285-3288. doi: 10.1016/j.radcr.2021.07.052.
- PMID: 34484532
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Overview of Prostate Cancer Genetic Testing.
- Chandrasekar T, Kelly WK, Gomella LG.
- Urol Clin North Am. 2021 Aug;48(3):279-282. doi: 10.1016/j.ucl.2021.04.002. Epub 2021 Jun 10.
- PMID: 34210484
- PubMed abstract
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- BRCA, breast cancer and in vitro fertilization: How should we advise our patients?
- García-Planells J, Francés BS, Diez-Juan A.
- Fertil Steril. 2021 Jul 8:S0015-0282(21)00505-7. doi: 10.1016/j.fertnstert.2021.06.011. Epub ahead of print.
- PMID: 34247761
- PubMed abstract
- Commentary
- Free Full Text
Original research:
Fertility treatments and breast cancer risk in Jewish Israeli BRCA mutation carriers.
- PMID: 33823990
- PubMed abstract
- Source abstract
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- Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.
- Casolino R, Paiella S, Azzolina D, Beer PA, Corbo V, Lorenzoni G, Gregori D, Golan T, Braconi C, Froeling FEM, Milella M, Scarpa A, Pea A, Malleo G, Salvia R, Bassi C, Chang DK, Biankin AV.
- J Clin Oncol. 2021 Jul 1:JCO2003238. doi: 10.1200/JCO.20.03238. Epub ahead of print.
- PMID: 34197182
- PubMed abstract
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- Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.
- Laitman Y, Michaelson-Cohen R, Chen-Shtoyerman R, Goldberg Y, Reish O, Bernstein-Molho R, Levy-Lahad E, Baruch NEB, Kedar I, Evans DG, Haim S, Paluch-Shimon S, Friedman E.
- Fam Cancer. 2021 Jul;20(3):189-194. doi: 10.1007/s10689-020-00216-y. Epub 2020 Nov 9.
- PMID: 33165727
- PubMed abstract
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- Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper.
- Cousens NE, Tiller J, Meiser B, Barlow-Stewart K, Rowley S, Ko YA, Mahale S, Campbell IG, Kaur R, Bankier A, Burnett L, Jacobs C, James PA, Trainer A, Neil S, Delatycki MB, Andrews L.
- BMJ Open. 2021 Jun 25;11(6):e041186. doi: 10.1136/bmjopen-2020-041186.
- PMID: 34172541
- PubMed abstract
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- Breast cancer incidence in BRCA mutation carriers with ovarian cancer: A longitudal observational study.
- Safra T, Waissengrin B, Gerber D, Bernstein-Molho R, Klorin G, Salman L, Josephy D, Chen-Shtoyerman R, Bruchim I, Frey MK, Pothuri B, Muggia F.
- Gynecol Oncol. 2021 Jun 22:S0090-8258(21)00489-3. doi: 10.1016/j.ygyno.2021.06.009. Epub ahead of print.
- PMID: 34172288
- PubMed abstract
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- Ashkenazi Dads Can Pass the BRCA Mutation to Their Kids. It Turns Out I Did.
- Hertz B.
- Kveller. 2021 Jun 14.
- Blog post
- Free Full Text
Blog post: Surviving, and Thriving, as a Dad with a Cancer Gene Mutation. (FORCE Blog)
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- Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
- Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
- Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
- PMID: 34086170
- PubMed abstract
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- Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans.
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Guidelines:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].
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- Should I Be Tested for BRCA Mutations?
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- JAMA. 2019 Aug 20;322(7):702. doi: 10.1001/jama.2019.11251.
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Guidelines:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
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- USPSTF Recommendation: Assessment, Counseling, and Testing for BRCA-Related Cancer.
- Mangione CM.
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Guidelines:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
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- Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].
- Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L.
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- Guidelines
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Guidelines:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
- PMID: 31429903
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Guidelines:
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
- PMID: 31429902
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- Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
- Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY.
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Press: Multi-Gene Panel Testing Finds Pathogenic Variant Carriers Missed Under Current Testing Guidelines. (GenomeWeb)
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- Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach.
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- Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
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- J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
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- Attitude towards and factors affecting uptake of population-based BRCA testing in the Ashkenazi Jewish population: a cohort study.
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- Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer.
- Lavie O, Chetrit A, Novikov I, Sadetzki S; National Israeli Study of Ovarian Cancer.
- Gynecol Oncol. 2019 May;153(2):320-325. doi: 10.1016/j.ygyno.2019.02.022. Epub 2019 Mar 11.
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- Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
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- Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
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- 23andMe DTC Breast and Ovarian Cancer Risk Test Misses Almost 90 Percent of BRCA Mutation Carriers.
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- Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk.
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- Br J Cancer. 2019 Apr;120(8):848-854. doi: 10.1038/s41416-019-0426-5. Epub 2019 Mar 14.
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- The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.
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- Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
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- Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
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- Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.
- Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer.
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- [BRCAmutations more frequent in people of Jewish ancestry].
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- Ned Tijdschr Geneeskd. 2019 Mar 1;163. pii: D3663.
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- The influence of BRCA variants of unknown significance on cancer risk management decision-making.
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Editorial:
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- A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
- Best AF, Tucker MA, Frone MN, Greene MH, Peters JA, Katki HA.
- Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):293-302. doi: 10.1158/1055-9965.EPI-18-0584. Epub 2019 Jan 28.
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- The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
- Pilarski R.
- Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
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- The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
- Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
- Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
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- Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.
- Nielsen SM, De Simone LM, Olopade OI.
- J Genet Couns. 2018 Dec;27(6):1405-1410. doi: 10.1007/s10897-018-0269-x. Epub 2018 Jun 26.
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- Population Based Testing for Primary Prevention: A Systematic Review.
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- The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
- Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
- Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
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- Familial communication and cascade testing among relatives of BRCA population screening participants.
- Lieberman S, Lahad A, Tomer A, Koka S, BenUziyahu M, Raz A, Levy-Lahad E.
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- Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
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- Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
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- Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
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- Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
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- J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.
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The Ancestral Pace of Variant Reclassification.
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- Comparison of gynecologic cancer risk factors, incidence and mortality trends between South Korea and Israel, 1999-2013.
- Michaan N, Park SY, Won YJ, Lim MC.
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- BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
- Solano AR, Liria NC, Jalil FS, Faggionato DM, Mele PG, Mampel A, Cardoso FC, Podesta EJ.
- Front Oncol. 2018 Aug 21;8:323. doi: 10.3389/fonc.2018.00323. eCollection 2018.
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- Accuracy of Risk Prediction Models for Breast Cancer and BRCA1/BRCA2 Mutation Carrier Probabilities in Israel.
- Kenan ES, Friger M, Shochat-Bigon D, Schayek H, Bernstein-Molho R, Friedman E.
- Anticancer Res. 2018 Aug;38(8):4557-4563. doi: 10.21873/anticanres.12760.
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- “Second-Class Status?” Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome.
- Suttman A, Pilarski R, Agnese DM, Senter L.
- J Genet Couns. 2018 Aug;27(4):885-893. doi: 10.1007/s10897-018-0214-z. Epub 2018 Feb 5.
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- Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population.
- Manchanda R, Blyuss O, Gaba F, Gordeev VS, Jacobs C, Burnell M, Gan C, Taylor R, Turnbull C, Legood R, Zaikin A, Antoniou AC, Menon U, Jacobs I.
- J Med Genet. 2018 Aug;55(8):538-545. doi: 10.1136/jmedgenet-2017-105195. Epub 2018 Apr 5.
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- Mutational analysis of candidate genes in Israeli male breast cancer cases.
- Schayek H, Korach H, Laitman Y, Bernstein-Molho R, Friedman E.
- Breast Cancer Res Treat. 2018 Jul;170(2):399-404. doi: 10.1007/s10549-018-4765-3. Epub 2018 Mar 21.
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- Impact of BRCA mutations on outcomes among patients with serous endometrial cancer.
- Kadan Y, Raviv O, Segev Y, Lavie O, Bruchim I, Fishman A, Michaelson R, Beller U, Helpman L.
- Int J Gynaecol Obstet. 2018 Jul;142(1):91-96. doi: 10.1002/ijgo.12486. Epub 2018 Apr 2.
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- Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations.
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- FORCE. XRAYS. 2018 Jun 28.
- Research news
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False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
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- Direct-to-Consumer Genetic Testing: The Implications of the US FDA's First Marketing Authorization for BRCA Mutation Testing.
- Gill J, Obley AJ, Prasad V.
- JAMA. 2018 Jun 19;319(23):2377-2378. doi: 10.1001/jama.2018.5330.
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- XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
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- FORCE. XRAYS. 2018 Jun 7.
- Research review, Commentary
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Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
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Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)
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- Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
- Mano R, Tamir S, Kedar I, Benjaminov O, Baniel J, Tabachnik T, Margel D.
- JAMA Oncol. 2018 Jun 1;4(6):872-874. doi: 10.1001/jamaoncol.2018.0271.
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- Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
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- JAMA Oncol. 2018 May 3. doi: 10.1001/jamaoncol.2018.0595. [Epub ahead of print]
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Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
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Letter, Reply:
Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.
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- The Relationship Between Body Image, Gender, Subjective Norms, and the Decision to Undergo Preventive Mastectomy Among Arab and Jewish BRCA Carriers.
- Kardosh M, Bar-Tal Y, Barnoy S.
- Cancer Nurs. 2018 May/Jun;41(3):255-262. doi: 10.1097/NCC.0000000000000503.
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- Direct-to-Consumer Test for BRCA Mutations Authorized.
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- Cancer Discov. 2018 May;8(5):OF5. doi: 10.1158/2159-8290.CD-NB2018-031. Epub 2018 Mar 14.
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- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
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- False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
- Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.
- Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.38. [Epub ahead of print]
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Commentary:
Attention: Direct-To-Consumer patrons: Proceed with caution.
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Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)
Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)
Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)
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- FDA approves breast cancer test kits: how useful are they?
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- FORCE. XRAYS. 2018 Mar 19.
- News
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FDA News Release: FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes (U.S. Food & Drug Administration)
Press: Oncology Community Sees Potential for Patient Harm in FDA OK of 23andMe BRCA Test (GenomeWeb)
Press: FDA Authorizes 23andMe DTC Test Report for Three BRCA Mutations (GenomeWeb)
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- Medical Strategy or Marketing Strategy?
- Resta R.
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- First DTC Test for Some BRCA Mutations Authorized by FDA.
- Nelson R.
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- FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.
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- U.S. Food & Drug Administration. FDA News Release. 2018 Mar 6.
Blog post, News: NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations (NSGC Blog)
News: FDA approves breast cancer test kits: how useful are they? (FORCE. XRAYS)
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- BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far.
- Sharma B, Preet Kaur R, Raut S, Munshi A.
- Curr Probl Cancer. 2018 Mar - Apr;42(2):189-207. doi: 10.1016/j.currproblcancer.2018.01.001. Epub 2018 Jan 8.
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- Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers.
- Grinshpun A, Halpern N, Granit RZ, Hubert A, Hamburger T, Laitman Y, Shacham-Shmueli E, Peerless Y, Friedman E, Peretz T.
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- Population-Based Genetic Testing for BRCA1 and BRCA2.
- Narod S, Akbari MR.
- J Clin Oncol. 2018 Feb 10;36(5):517. doi: 10.1200/JCO.2017.75.8490. Epub 2018 Jan 2.
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Editorial:
Genetic Testing: What Problem Are We Trying to Solve?
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National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.
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Letter, Comment:
Reply to S. Nakamura et al and S. Narod et al.
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- The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.
- Bernstein-Molho R, Laitman Y, Schayek H, Reish O, Lotan S, Haim S, Zidan J, Friedman E.
- Breast Cancer Res Treat. 2018 Feb;167(3):697-702. doi: 10.1007/s10549-017-4551-7. Epub 2017 Oct 30.
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- Laitman Y, Keinan Boker L, Liphsitz I, Weissglas-Volkov D, Litz-Philipsborn S, Schayek H, Friedman E.
- Breast Cancer Res Treat. 2015 Apr;150(3):631-5. doi: 10.1007/s10549-015-3340-4. Epub 2015 Mar 19.
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- To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
- Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
- J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
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- Lizzie Stark's ‘Real Steps to Survival’
- Seth Berkman
- The Sisterhood, 2015 Jan 6
- Blog post
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- 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
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- Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.
- Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ.
- Breast Cancer Res Treat. 2015 Jan;149(1):223-7. doi: 10.1007/s10549-014-3218-x. Epub 2014 Dec 6.
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- Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
- Tafe LJ, Datto MB, Palomaki GE, Lacbawan FL.
- Genet Med. 2015 Jan;17(1):58-62. doi: 10.1038/gim.2014.77. Epub 2014 Jun 19.
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- Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
- Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, McGuire A, Beller U, Menon U, Jacobs I.
- J Natl Cancer Inst. 2014 Nov 30;107(1):379. doi: 10.1093/jnci/dju379. Print 2015 Jan.
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Press: Current way of detecting gene mutations misses people at high risk of cancer. (Medical Xpress)
Press: 'Screen more' for cancer risk genes. (BBC Health)
Press: Population Genetic Testing Favored for BRCA1/BRCA2 Mutations in Ashkenazi-Jewish Women. (Medscape / Reuters Health)
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- Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.
- Manchanda R, Legood R, Burnell M, McGuire A, Raikou M, Loggenberg K, Wardle J, Sanderson S, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, Beller U, Menon U, Jacobs I.
- J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan.
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Press: Current way of detecting gene mutations misses people at high risk of cancer. (Medical Xpress)
Press: Population Genetic Testing Favored for BRCA1/BRCA2 Mutations in Ashkenazi-Jewish Women. (Medscape / Reuters Health)
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- Unknown significance.
- Couzin-Frankel J.
- Science. 2014 Dec 5;346(6214):1167-70. doi: 10.1126/science.346.6214.1167.
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Press: Feature: Peering into my genome (Science)
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- FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
- Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.
- Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.
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- Breast cancer incidence rates among orthodox Jewish women.
- Tkatch R, Schwartz K, Shore RD, Penner LA, Simon MS, Albrecht TL.
- J Immigr Minor Health. 2014 Oct;16(5):1007-10. doi: 10.1007/s10903-013-9822-8.
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- Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
- Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.
- Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.
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Comments on NSGC Discussion Forum Cancer SIG
Subject: Population screening for BRCA1/2
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- Genetic Testing For All: Is It Eugenics?
- Ricki Lewis.
- DNA Science Blog, 2014 Sep 18.
- Blog post
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- Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.
- King MC, Levy-Lahad E, Lahad A.
- JAMA. 2014 Sep 17;312(11):1091-2. doi: 10.1001/jama.2014.12483.
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- Editorial / Commentary
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Comments on NSGC Discussion Forum
Subject: NSGC Statement on BRCA Testing Over 30
Comments on NSGC Discussion Forum Cancer SIG
Subject: Population screening for BRCA1/2
Letter:
Proposed Shift in Screening for Breast Cancer.
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Letter, Comment:
Proposed Shift in Screening for Breast Cancer-Reply.
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- Beyond family history: Should all women be screened for BRCA breast cancer genes?
- Meredith Knight.
- Genetic Literacy Project, 2014 Sep 9.
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- The K898E germline variant in the PP1-binding motif of BRCA1 causes defects in DNA Repair.
- Chen BY, Huang CH, Lin YH, Huang CC, Deng CX, Hsu LC.
- Sci Rep. 2014 Jul 24;4:5812. doi: 10.1038/srep05812.
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- BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
- Lucas AL, Frado LE, Hwang C, Kumar S, Khanna LG, Levinson EJ, Chabot JA, Chung WK, Frucht H.
- Cancer. 2014 Jul 1;120(13):1960-7. doi: 10.1002/cncr.28662. Epub 2014 Apr 15.
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- Incorporating genetic testing ancestry results into medical decisions.
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- Virtual Mentor. 2014 Jun 1;16(6):428-33. doi: 10.1001/virtualmentor.2014.16.06.ecas2-1406.
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- Cultural Aspects of Healthy BRCA Carriers From Two Ethnocultural Groups.
- Navarro de Souza A, Groleau D, Loiselle CG, Foulkes WD, Wong N.
- Qual Health Res. 2014 May;24(5):665-81. doi: 10.1177/1049732314528756. Epub 2014 Apr 1.
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- Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations.
- Aviel-Ronen S, Soriano D, Shmuel E, Schonman R, Rosenblatt K, Zadok O, Vituri A, Seidman D, Barshack I, Cohen Y.
- Pathol Res Pract. 2014 Apr;210(4):250-5. doi: 10.1016/j.prp.2013.12.011. Epub 2014 Jan 10.
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- BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
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- Mapping Jewish Identities: Migratory Histories and the Transnational Re-Framing of ‘Ashkenazi BRCA Mutations’ in the UK and Brazil.
- Mozersky J, Gibbon S.
- In: Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of BRCA. Oxon (UK): Routledge; 2014. Gibbon S, Joseph G, Mozersky J, zur Nieden A, Palfner S, editors. Wellcome Trust–Funded Monographs and Book Chapters.
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- Breast cancer risk prediction accuracy in Jewish Israeli high-risk women using the BOADICEA and IBIS risk models.
- Laitman Y, Simeonov M, Keinan-Boker L, Liphshitz I, Friedman E.
- Genet Res (Camb). 2013 Dec;95(6):174-7. doi: 10.1017/S0016672313000232. Epub 2014 Feb 10.
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- Ask Well: Genetic Testing for Breast Cancer.
- Roni Caryn Rabin.
- New York Times. Ask Well. 2013 Nov 27.
- Press article
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- BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
- Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
- Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
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- Experience of BRCA1/2 mutation-negative young women from families with hereditary breast and ovarian cancer: a qualitative study.
- Macrae L, de Souza AN, Loiselle CG, Wong N.
- Hered Cancer Clin Pract. 2013 Oct 16;11(1):14. doi: 10.1186/1897-4287-11-14.
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- Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
- Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E.
- Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
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- A Dispatch from the Genetic Frontier.
- Theo Bloom.
- PLOS Biologue. 2013 Sep 24.
- Blog post
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- A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.
- Metcalfe KA, Poll A, Royer R, Nanda S, Llacuachaqui M, Sun P, Narod SA.
- Br J Cancer. 2013 Aug 6;109(3):777-9. doi: 10.1038/bjc.2013.309. Epub 2013 Jun 18.
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- Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder BRCA1/2 and LRRK2 Mutations.
- Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R.
- Public Health Genomics. [2013 Aug;];16(4):174-83. doi: 10.1159/000351592. Epub 2013 Jun 28.
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- High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
- Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.
- Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.
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Research news:
Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.
- PMID: 24147435
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- High mammographic density in women of Ashkenazi Jewish descent.
- Caswell JL, Kerlikowske K, Shepherd JA, Cummings SR, Hu D, Huntsman S, Ziv E.
- Breast Cancer Res. 2013 May 13;15(3):R40. doi: 10.1186/bcr3424.
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- Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
- Rinella ES, Shao Y, Yackowski L, Pramanik S, Oratz R, Schnabel F, Guha S, Leduc C, Campbell CL, Klugman SD, Terry MB, Senie RT, Andrulis IL, Daly M, John EM, Roses D, Chung WK, Ostrer H.
- Hum Genet. 2013 May;132(5):523-36. doi: 10.1007/s00439-013-1269-4. Epub 2013 Jan 25.
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- Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers.
- Gilam A, Edry L, Mamluk-Morag E, Bar-Ilan D, Avivi C, Golan D, Laitman Y, Barshack I, Friedman E, Shomron N.
- Breast Cancer Res Treat. 2013 Apr;138(3):753-60. doi: 10.1007/s10549-013-2502-5. Epub 2013 Apr 3.
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- Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.
- Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL.
- PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.
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Comments on NSGC Discussion Forum
Subject: Current thoughts on 23andme?
Press: Consumers have few negative reactions to the results of genetic testing for cancer mutations. (EurekAlert!)
Press: Get ready for the risks of genetic testing. (CNN)
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- Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
- Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E.
- Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4.
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- Frequency of Triple-Negative Breast Cancer in BRCA1 Mutation Carriers: Comparison Between Common Ashkenazi Jewish and Other Mutations.
- Tung N, Garber JE, Lincoln A, Domchek SM.
- J Clin Oncol. 2012 Dec 10;30(35):4447-8. doi: 10.1200/JCO.2012.44.5635. Epub 2012 Oct 22.
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Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.
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- Germline mutations in RAD51C in Jewish high cancer risk families.
- Kushnir A, Laitman Y, Shimon SP, Berger R, Friedman E.
- Breast Cancer Res Treat. 2012 Dec;136(3):869-74. doi: 10.1007/s10549-012-2317-9. Epub 2012 Nov 2.
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- Clinical significance of large rearrangements in BRCA1 and BRCA2.
- Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB.
- Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27.
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- BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
- Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
- Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
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- Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
- Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
- Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
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- Association of a HOXB13 variant with breast cancer.
- Alanee S, Couch F, Offit K.
- N Engl J Med. 2012 Aug 2;367(5):480-1. doi: 10.1056/NEJMc1205138.
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- Letter
- Free PMC article
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- Grace Rock's consent.
- Ross TS.
- Endocr Relat Cancer. 2012 Jul 22;19(4):C29-31. doi: 10.1530/ERC-12-0186. Print 2012 Aug.
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- Case Report, Commentary
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- 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.
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Comments from NSGC Discussion Forum Cancer SIG
Subject: articles needed
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- BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening.
- Shkedi-Rafid S, Gabai-Kapara E, Grinshpun-Cohen J, Levy-Lahad E.
- Genet Med. 2012 Jul;14(7):688-94.
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- Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.
- Dillenburg CV, Bandeira IC, Tubino TV, Rossato LG, Dias ES, Bittelbrunn AC, Leistner-Segal S.
- Genet Mol Biol. 2012 Jul;35(3):599-602. doi: 10.1590/S1415-47572012000400009. Epub 2012 Aug 17.
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- Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.
- Laitman Y, Simeonov M, Herskovitz L, Kushnir A, Shimon-Paluch S, Kaufman B, Zidan J, Friedman E.
- Breast Cancer Res Treat. 2012 Jun;133(3):1153-7. doi: 10.1007/s10549-012-2006-8. Epub 2012 Mar 8.
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Comments from NSGC Discussion Forum Cancer SIG
Subject: AJ Founder Mutations
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- Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
- Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
- Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
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- Who's to blame? Accounts of genetic responsibility and blame among Ashkenazi Jewish women at risk of BRCA breast cancer.
- Mozersky J.
- Sociol Health Illn. 2012 Jun;34(5):776-90. doi: 10.1111/j.1467-9566.2011.01427.x. Epub 2012 Jan 18.
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- Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
- Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
- J Clin Oncol. 2012 Apr 20;30(12):1321-8. doi: 10.1200/JCO.2011.37.8133. Epub 2012 Mar 19.
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- The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers.
- Laitman Y, Kuchenbaecker KB, Rantala J, Hogervorst F, Peock S, Godwin AK, Arason A, Kirchhoff T, Offit K, Isaacs C, Schmutzler RK, Wappenschmidt B, Nevanlinna H, Chen X, Chenevix-Trench G, Healey S, Couch F, Peterlongo P, Radice P, Nathanson KL, Caligo MA, Neuhausen SL, Ganz P, Sinilnikova OM, McGuffog L, Easton DF, Antoniou AC, Wolf I, Friedman E.
- Breast Cancer Res Treat. 2012 Apr;132(3):1119-26. doi: 10.1007/s10549-011-1938-8. Epub 2012 Jan 3.
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- Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers?
- Bernholtz S, Laitman Y, Kaufman B, Shimon-Paluch S, Friedman E.
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- Germline BRCA mutation does not prevent response to taxane-based therapy for the treatment of castration-resistant prostate cancer.
- Gallagher DJ, Cronin AM, Milowsky MI, Morris MJ, Bhatia J, Scardino PT, Eastham JA, Offit K, Robson ME.
- BJU Int. 2012 Mar;109(5):713-9. doi: 10.1111/j.1464-410X.2011.10292.x. Epub 2011 Jul 14.
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- Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.
- Kohut K, D'Mello L, Bancroft EK, Thomas S, Young MA, Myhill K, Shanley S, Briggs BH, Newman M, Saraf IM, Cox P, Scambler S, Wagman L, Wyndham MT, Eeles RA, Ferris M.
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- Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers.
- Bernholtz S, Jakobson-Setton A, Korach J, Ben Baruch G, Laitman Y, Friedman E.
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- Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.
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