메뉴 건너뛰기




Volumn 19, Issue 5, 2017, Pages 529-536

Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population

Author keywords

Ashkenazi Jewish; BRCA testing; group genetic counseling; hereditary cancer risk; population screening

Indexed keywords

ADULT; AGED; ARTICLE; ASHKENAZI JEW; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; LOW RISK POPULATION; MALE; PILOT STUDY; TUMOR SUPPRESSOR GENE; UNITED STATES; EARLY CANCER DIAGNOSIS; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; HETEROZYGOTE DETECTION; JEW; MASS SCREENING; MIDDLE AGED; PROCEDURES;

EID: 85021700971     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.154     Document Type: Article
Times cited : (15)

References (40)
  • 1
    • 18444364814 scopus 로고    scopus 로고
    • Incidence of non-founder brca1 and brca2 mutations in high risk ashkenazi breast and ovarian cancer families
    • Kauff ND, Perez-Segura P, Robson ME, et al. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet 2002;39:611-614.
    • (2002) J Med Genet , vol.39 , pp. 611-614
    • Kauff, N.D.1    Perez-Segura, P.2    Robson, M.E.3
  • 2
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi jewish population frequencies for common mutations in brca1 and brca2
    • Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-187.
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3    Richards, C.S.4
  • 3
    • 84883145914 scopus 로고    scopus 로고
    • 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, et al. A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing. Br J Cancer 2013;109: 777-779.
    • (2013) Br J Cancer , vol.109 , pp. 777-779
    • Metcalfe, K.A.1    Poll, A.2    Royer, R.3
  • 4
    • 0037836054 scopus 로고    scopus 로고
    • Population attributes affecting the prevalence of brca mutation carriers in epithelial ovarian cancer cases in Israel
    • Hirsh-Yechezkel G, Chetrit A, Lubin F, et al. Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in israel. Gynecol Oncol 2003;89:494-498.
    • (2003) Gynecol Oncol , vol.89 , pp. 494-498
    • Hirsh-Yechezkel, G.1    Chetrit, A.2    Lubin, F.3
  • 5
    • 0142178215 scopus 로고    scopus 로고
    • New York breast cancer study group. Breast and ovarian cancer risks due to inherited mutations in brca1 and brca2
    • King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 6
    • 84920830655 scopus 로고    scopus 로고
    • Cancers associated with brca1 and brca2 mutations other than breast and ovarian
    • Mersch J, Jackson MA, Park M, et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer 2015;121:269-275.
    • (2015) Cancer , vol.121 , pp. 269-275
    • Mersch, J.1    Jackson, M.A.2    Park, M.3
  • 7
    • 85021714381 scopus 로고    scopus 로고
    • Nccn clinical practice guidelines in oncology (nccn guidelines)
    • National Comprehensive Cancer Network
    • National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Genetic/Familial High-Risk Assessment: Breast and Ovarian, version 2.2016). 2016.
    • (2016) Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2. 2016)
  • 8
    • 83755180749 scopus 로고    scopus 로고
    • Long-term outcomes of brca1/brca2 testing: Risk reduction and surveillance
    • Schwartz MD, Isaacs C, Graves KD, et al. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer 2012;118:510-517.
    • (2012) Cancer , vol.118 , pp. 510-517
    • Schwartz, M.D.1    Isaacs, C.2    Graves, K.D.3
  • 9
    • 77956193440 scopus 로고    scopus 로고
    • Association of risk-reducing surgery in brca1 or brca2 mutation carriers with cancer risk and mortality
    • Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967-975.
    • (2010) JAMA , vol.304 , pp. 967-975
    • Domchek, S.M.1    Friebel, T.M.2    Singer, C.F.3
  • 10
    • 0036152382 scopus 로고    scopus 로고
    • Genetic testing for cancer predisposition
    • quiz 26
    • Calzone KA, Biesecker BB. Genetic testing for cancer predisposition. Cancer Nurs 2002;25:15-25; quiz 26.
    • (2002) Cancer Nurs , vol.25 , pp. 15-25
    • Calzone, K.A.1    Biesecker, B.B.2
  • 11
    • 85021708308 scopus 로고    scopus 로고
    • Nccn clinical practice guidelines in oncology (nccn guidelines)
    • National Comprehensive Cancer Network
    • National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Genetic/Familial High-Risk Assessment: Breast and Ovarian, version 1.2015). 2015.
    • (2015) Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1. 2015)
  • 12
    • 84894265494 scopus 로고    scopus 로고
    • Risk assessment, genetic counseling, and genetic testing for brcarelated cancer in women: U.s
    • Preventive Services Task Force Recommendation Statement
    • Moyer VA. Risk assessment, genetic counseling, and genetic testing for BRCArelated cancer in women: U.S. Preventive Services Task Force Recommendation Statement. Ann Intern Med 2013;160:271-281.
    • (2013) Ann Intern Med , vol.160 , pp. 271-281
    • Moyer, V.A.1
  • 13
    • 82955248030 scopus 로고    scopus 로고
    • Eligibility criteria in private and public coverage policies for brca genetic testing and genetic counseling
    • Wang G, Beattie MS, Ponce NA, Phillips KA. Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling. Genet Med 2011;13:1045-1050.
    • (2011) Genet Med , vol.13 , pp. 1045-1050
    • Wang, G.1    Beattie, M.S.2    Ponce, N.A.3    Phillips, K.A.4
  • 14
    • 84907192446 scopus 로고    scopus 로고
    • Population-based screening for brca1 and brca2 2014 lasker award
    • King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA 2014;312:1091-1092.
    • (2014) JAMA , vol.312 , pp. 1091-1092
    • King, M.C.1    Levy-Lahad, E.2    Lahad, A.3
  • 15
    • 84920532181 scopus 로고    scopus 로고
    • Is it time for brca1/2 mutation screening in the general adult population? Impact of population characteristics
    • Palomaki GE. Is it time for BRCA1/2 mutation screening in the general adult population?: impact of population characteristics. Genet Med 2015;17:24-26.
    • (2015) Genet Med , vol.17 , pp. 24-26
    • Palomaki, G.E.1
  • 16
    • 84944209767 scopus 로고    scopus 로고
    • Population-wide screening for germline brca1 and brca2 mutations too much of a good thing?
    • Yurgelun MB, Hiller E, Garber JE. Population-wide screening for germline BRCA1 and BRCA2 mutations: too much of a good thing? J Clin Oncol 2015;33:3092-3095.
    • (2015) J Clin Oncol , vol.33 , pp. 3092-3095
    • Yurgelun, M.B.1    Hiller, E.2    Garber, J.E.3
  • 17
    • 84951906736 scopus 로고    scopus 로고
    • Population genetic testing for cancer susceptibility: Founder mutations to genomes
    • Foulkes WD, Knoppers BM, Turnbull C. Population genetic testing for cancer susceptibility: founder mutations to genomes. Nat Rev Clin Oncol 2016;13: 41-54.
    • (2016) Nat Rev Clin Oncol , vol.13 , pp. 41-54
    • Foulkes, W.D.1    Knoppers, B.M.2    Turnbull, C.3
  • 18
    • 0030982919 scopus 로고    scopus 로고
    • Screening for 185delag in the ashkenazim
    • Richards CS, Ward PA, Roa BB, et al. Screening for 185delAG in the Ashkenazim. Am J Hum Genet 1997;60:1085-1098.
    • (1997) Am J Hum Genet , vol.60 , pp. 1085-1098
    • Richards, C.S.1    Ward, P.A.2    Roa, B.B.3
  • 19
    • 84939638227 scopus 로고    scopus 로고
    • Brca1/2 population screening: Embracing the benefits
    • Plon SE. BRCA1/2 population screening: embracing the benefits. Curr Oncol 2015;22:e230-e231.
    • (2015) Curr Oncol , vol.22 , pp. e230-e231
    • Plon, S.E.1
  • 20
    • 70349665340 scopus 로고    scopus 로고
    • Cost-effectiveness of population-based brca1/2 testing and ovarian cancer prevention for ashkenazi jews: A call for dialogue
    • Rubinstein WS, Jiang H, Dellefave L, Rademaker AW. Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue. Genet Med 2009;11:629-639.
    • (2009) Genet Med , vol.11 , pp. 629-639
    • Rubinstein, W.S.1    Jiang, H.2    Dellefave, L.3    Rademaker, A.W.4
  • 21
    • 75749096049 scopus 로고    scopus 로고
    • Screening for founder mutations in brca1 and brca2 in unselected jewish women
    • Metcalfe KA, Poll A, Royer R, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol 2010;28:387-391.
    • (2010) J Clin Oncol , vol.28 , pp. 387-391
    • Metcalfe, K.A.1    Poll, A.2    Royer, R.3
  • 22
    • 84907206454 scopus 로고    scopus 로고
    • Population-based screening for breast and ovarian cancer risk due to brca1 and brca2
    • Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA 2014;111:14205-14210.
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 14205-14210
    • Gabai-Kapara, E.1    Lahad, A.2    Kaufman, B.3
  • 23
    • 84930452193 scopus 로고    scopus 로고
    • Population testing for cancer predisposing brca1/brca2 mutations in the ashkenazi-jewish community: A randomized controlled trial
    • Manchanda R, Loggenberg K, Sanderson S, et al. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst 2015;107:dju379.
    • (2015) J Natl Cancer Inst , vol.107 , pp. dju379
    • Manchanda, R.1    Loggenberg, K.2    Sanderson, S.3
  • 24
    • 84922477275 scopus 로고    scopus 로고
    • Cost-effectiveness of population screening for brca mutations in ashkenazi jewish women compared with family history based testing
    • Manchanda R, Legood R, Burnell M, et al. Cost-effectiveness of population screening for BRCA mutations in Ashkenazi Jewish women compared with family history based testing. J Natl Cancer Inst 2015;107:dju380.
    • (2015) J Natl Cancer Inst , vol.107 , pp. dju380
    • Manchanda, R.1    Legood, R.2    Burnell, M.3
  • 25
    • 84939604539 scopus 로고    scopus 로고
    • Is it time to offer brca1 and brca2 testing to all jewish women?
    • Aug
    • Metcalfe KA, Eisen A, Lerner-Ellis J, Narod SA. Is it time to offer BRCA1 and BRCA2 testing to all Jewish women? Curr Oncol. 2015 Aug; 22(4): e233-e236.
    • (2015) Curr Oncol , vol.22 , Issue.4 , pp. e233-e236
    • Metcalfe, K.A.1    Eisen, A.2    Lerner-Ellis, J.3    Narod, S.A.4
  • 26
    • 84863716504 scopus 로고    scopus 로고
    • Long-term follow-up of jewish women with a brca1 and brca2 mutation who underwent population genetic screening
    • Metcalfe KA, Mian N, Enmore M, et al. Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening. Breast Cancer Res Treat 2012;133:735-740.
    • (2012) Breast Cancer Res Treat , vol.133 , pp. 735-740
    • Metcalfe, K.A.1    Mian, N.2    Enmore, M.3
  • 27
    • 85006151385 scopus 로고    scopus 로고
    • Prevention for those who can pay: Insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease
    • Prince AER. Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease. J Law Biosci 2015;2:365-395.
    • (2015) J Law Biosci , vol.2 , pp. 365-395
    • Prince, A.E.R.1
  • 28
    • 84904251908 scopus 로고    scopus 로고
    • Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: Expanding the role and reach of certified genetics professionals
    • Radford C, Prince A, Lewis K, Pal T. Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: expanding the role and reach of certified genetics professionals. J Genet Couns 2014;23:522-530.
    • (2014) J Genet Couns , vol.23 , pp. 522-530
    • Radford, C.1    Prince, A.2    Lewis, K.3    Pal, T.4
  • 29
    • 62049084378 scopus 로고    scopus 로고
    • Research electronic data capture (redcap)-A metadata-driven methodology and workflow process for providing translational research informatics support
    • Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)-A metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 2009;42:377-381.
    • (2009) J Biomed Inform , vol.42 , pp. 377-381
    • Harris, P.A.1    Taylor, R.2    Thielke, R.3    Payne, J.4    Gonzalez, N.5    Conde, J.G.6
  • 31
    • 85021759382 scopus 로고    scopus 로고
    • Centers for Medicare and Medicaid Services
    • Centers for Medicare and Medicaid Services. Local Coverage Determination (LCD): MolDX: BRCA1 and BRCA2 Genetic Testing (L36082). 2015. https://www.cms.gov/medicare-coverage-database/details/icd-details.aspx?LCDid=3 6082&ver=20&CoverageSelection=Both&ArticleType=All&PolicyType=Final&s =All&KeyWord=BRCA1&KeyWordLookUp=Title&KeyWordSearchType=And& id=135&bc=gAAAABAAAAAAAA%3d%3d&
    • (2015) Local Coverage Determination (LCD): MolDX: BRCA1 and BRCA2 Genetic Testing (L36082)
  • 32
    • 84925504998 scopus 로고    scopus 로고
    • Evaluation of two-year jewish genetic disease screening program in atlanta: Insight into community genetic screening approaches
    • Shao Y, Liu S, Grinzaid K. Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches. J Community Genet 2015;6:137-145.
    • (2015) J Community Genet , vol.6 , pp. 137-145
    • Shao, Y.1    Liu, S.2    Grinzaid, K.3
  • 33
    • 84929284692 scopus 로고    scopus 로고
    • A systematic review of factors that act as barriers to patient referral to genetic services
    • Delikurt T, Williamson GR, Anastasiadou V, Skirton H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet 2015;23:739-745.
    • (2015) Eur J Hum Genet , vol.23 , pp. 739-745
    • Delikurt, T.1    Williamson, G.R.2    Anastasiadou, V.3    Skirton, H.4
  • 34
    • 84925543786 scopus 로고    scopus 로고
    • Incidence of brca1 and brca2 non-founder mutations in patients of ashkenazi jewish ancestry
    • Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ. Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry. Breast Cancer Res Treat 2015;149:223-227.
    • (2015) Breast Cancer Res Treat , vol.149 , pp. 223-227
    • Rosenthal, E.1    Moyes, K.2    Arnell, C.3    Evans, B.4    Wenstrup, R.J.5
  • 35
    • 84953350507 scopus 로고    scopus 로고
    • Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel
    • Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, et al. Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. Breast Cancer Res Treat 2016;155:133-138.
    • (2016) Breast Cancer Res Treat , vol.155 , pp. 133-138
    • Yablonski-Peretz, T.1    Paluch-Shimon, S.2    Gutman, L.S.3
  • 36
    • 84952630873 scopus 로고    scopus 로고
    • Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening
    • Frey MK, Kim SH, Bassett RY, et al. Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. Gynecol Oncol 2015;139:211-215.
    • (2015) Gynecol Oncol , vol.139 , pp. 211-215
    • Frey, M.K.1    Kim, S.H.2    Bassett, R.Y.3
  • 37
    • 84879993498 scopus 로고    scopus 로고
    • Identification of genetic counseling service delivery models in practice: A report from the nsgc service delivery model task force
    • Cohen SA, Marvin ML, Riley BD, Vig HS, Rousseau JA, Gustafson SL. Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force. J Genet Couns 2013;22: 411-421.
    • (2013) J Genet Couns , vol.22 , pp. 411-421
    • Cohen, S.A.1    Marvin, M.L.2    Riley, B.D.3    Vig, H.S.4    Rousseau, J.A.5    Gustafson, S.L.6
  • 38
    • 84939960192 scopus 로고    scopus 로고
    • Creation of a national, at-home model for ashkenazi jewish carrier screening
    • Grinzaid KA, Page PZ, Denton JJ, Ginsberg J. Creation of a national, at-home model for Ashkenazi Jewish carrier screening. J Genet Couns 2015;24: 381-387.
    • (2015) J Genet Couns , vol.24 , pp. 381-387
    • Grinzaid, K.A.1    Page, P.Z.2    Denton, J.J.3    Ginsberg, J.4
  • 39
    • 78650409243 scopus 로고    scopus 로고
    • Family history of cancer and cancer risks in women with brca1 or brca2 mutations
    • Metcalfe K, Lubinski J, Lynch HT, et al. Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. J Natl Cancer Inst 2010;102: 1874-1878.
    • (2010) J Natl Cancer Inst , vol.102 , pp. 1874-1878
    • Metcalfe, K.1    Lubinski, J.2    Lynch, H.T.3
  • 40
    • 79551621885 scopus 로고    scopus 로고
    • Genetic modifiers of cancer risk for brca1 and brca2 mutation carriers
    • Milne RL, Antoniou AC. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann Oncol 2011;22 (suppl 1):i11-i17.
    • (2011) Ann Oncol , vol.22 , pp. i11-i17
    • Milne, R.L.1    Antoniou, A.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.