Genetic variants of uncertain significance: Flies in the ointment

Journal of Clinical Oncology

Volumn 26, Issue 1, 2008, Pages 16-17

  Domchek, Susan ^a   Weber, Barbara L ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

BREAST CANCER; CANCER RISK; CLINICAL DECISION MAKING; EDITORIAL; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; RACE DIFFERENCE; WOMEN'S HEALTH;

BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENETIC SCREENING; HAPLOTYPES; HUMANS; MUTATION; OVARIAN NEOPLASMS; VARIATION (GENETICS);

EID: 37849041997     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2007.14.4154     Document Type: Editorial

References (9)

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2. Malacrida S, Agata S, Callegara M, et al: BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy. J Clin Oncol 26:10.1200/JCO.2007.13.2118
3. Frank TS, Deffenbaugh AM, Reid JE, et al: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 20:1480-1490, 2002
4. Nanda R, Schumm LP, Cummings S, et al: 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. JAMA 294:1925-1933, 2005
5. Weitzel JN, Lagos V, Blazer KR, et al: Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 14:1666-1671, 2005
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7. Chenevix-Trench G, Healey S, Lakhani S, et al: Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 66:2019-2027, 2006
8. Mirkovic N, Marti-Renom MA, Weber BL, et al: Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition. Cancer Res 64:3790-3797, 2004
9. Karchin R, Monteiro AN, Tavtigian SV, et al: Functional impact of missense variants in BRCA1 predicted by supervised learning. PLoS Comput Biol 3:e26, 2007