Genetic variants of uncertain significance: Flies in the ointment

被引：34

作者：

Domchek, Susan ^{[1
]}

Weber, Barbara L. ^{[2
]}

机构：

[1] Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[2] GlaxoSmithKline Inc, King Of Prussia, PA USA

来源：

JOURNAL OF CLINICAL ONCOLOGY | 2008年 / 26卷 / 01期

关键词：

D O I：

10.1200/JCO.2007.14.4154

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：16 / 17

页数：2

共 9 条

[1] Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance [J].

Chenevix-Trench, G ;

Healey, S ;

Lakhani, S ;

Waring, P ;

Cummings, M ;

Brinkworth, R ;

Deffenbaugh, AM ;

Burbidge, LA ;

Pruss, D ;

Judkins, T ;

Scholl, T ;

Bekessy, A ;

Marsh, A ;

Lovelock, P ;

Wong, M ;

Tesoriero, A ;

Renard, H ;

Southey, M ;

Hopper, JL ;

Yannoukakos, K ;

Brown, M ;

Easton, D ;

Tavtigian, SV ;

Goldgars, D ;

Spurdle, AB .

CANCER RESEARCH, 2006, 66 (04) :2019-2027

[2] Clinical management of BRCA1 and BRCA2 mutation carriers [J].

Domchek, S. M. ;

Weber, B. L. .

ONCOGENE, 2006, 25 (43) :5825-5831

[3] Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2:: Analysis of 10,000 individuals [J].

Frank, TS ;

Deffenbaugh, AM ;

Reid, JE ;

Hulick, M ;

Ward, BE ;

Lingenfelter, B ;

Gumpper, KL ;

Scholl, T ;

Tavtigian, SV ;

Pruss, DR ;

Critchfield, GC .

JOURNAL OF CLINICAL ONCOLOGY, 2002, 20 (06) :1480-1490

[4] Functional impact of missense variants in BRCA1 predicted by supervised learning [J].

Karchin, Rachel ;

Monteiro, Alvaro N. A. ;

Tavtigian, Sean V. ;

Carvalho, Marcelo A. ;

Sali, Andrej .

PLOS COMPUTATIONAL BIOLOGY, 2007, 3 (02) :268-281

[5]

MALACRIDA S, J CLIN ONCOL, V26

[6] Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition [J].

Mirkovic, N ;

Marti-Renom, MA ;

Weber, BL ;

Sali, A ;

Monteiro, ANA .

CANCER RESEARCH, 2004, 64 (11) :3790-3797

[7] Genetic testing in an ethnically diverse cohort of high-risk women -: A comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry [J].

Nanda, R ;

Schumm, LP ;

Cummings, S ;

Fackenthal, JD ;

Sveen, L ;

Ademuyiwa, F ;

Cobleigh, M ;

Esserman, L ;

Lindor, NM ;

Neuhausen, SL ;

Olopade, OI .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2005, 294 (15) :1925-1933

[8] Prevalence of BRCA mutations and founder effect in high-risk Hispanic families [J].

Weitzel, JN ;

Lagos, V ;

Blazer, KR ;

Nelson, R ;

Ricker, C ;

Herzog, J ;

McGuire, C ;

Neuhausen, S .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2005, 14 (07) :1666-1671

[9]

Wu KJ, 2005, CANCER RES, V65, P417

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