abstract: The inherited genetics of ovarian and endometrial cancer

"Endometrial and epithelial ovarian cancers are the fourth and fifth most common cancers in women in developed countries, after breast, lung, and colorectal cancer. In the United States alone, in 2008 there were about 40000 new diagnoses of endometrial cancer and 7500 disease-related deaths. For ovarian cancer, there were about 22000 new diagnoses and 15000 deaths over the same period. The purpose of this article is to review the recent developments in the inherited genetics of ovarian and endometrial cancer, with particular attention to recent progress in identifying common low-penetrance susceptibility genes and their clinical implications."

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

Abstract

PURPOSE OF REVIEW: To summarize evidence on the prevalence and spectrum of BRCA1 and BRCA2 BRCA1/2 mutations across racial and ethnic groups and discuss implications for clinical practice.
RECENT FINDINGS: The prevalence of BRCA1/2 mutations is comparable among breast cancer patients of African, Asian, white, and Hispanic descent: approximately 1-4% per gene. Among ovarian cancer patients in North America, BRCA1/2 mutations are present in 13-15%. Between racial/ethnic groups, there are important differences in the spectrum of BRCA1 compared with BRCA2 mutations, in BRCA1/2 variants of uncertain significance, and in the accuracy of clinical models that predict BRCA1/2 mutation carriage.
SUMMARY: Given the significant prevalence of BRCA1/2 mutations across race/ethnicity, there is a need to expand and customize genetic counseling, genetic testing, and follow-up care for members of all racial/ethnic groups.