Accession Number : AD1044794

Title :   Cancer Risks Associated With Inherited Mutations in Ovarian Cancer Susceptibility Genes Beyond BRCA1 and BRCA2

Descriptive Note : Technical Report,15 Apr 2016,14 Apr 2017

Corporate Author : University of Washington Seattle United States

Personal Author(s) : Swisher, Elizabeth

Full Text :

Report Date : 01 May 2017

Pagination or Media Count : 9

Abstract : Ovarian, peritoneal and fallopian tube carcinomas (OC) are the most deadly of the gynecological cancers. Our data indicate that at least 20 of unselected OC is hereditary and that 20-25 of inherited mutations occur in genes other than BRCA1 and BRCA2. The large fraction of OC associated with inherited mutations in a variety of genes provides an important opportunity to reduce OC mortality. Maximizing the benefit from OC risk assessment and prevention requires an improved understanding of the penetrance of OC genes beyond BRCA1/2. Furthermore, minimal data exist regarding the hereditary component of OC, including BRCA1/2, in non-white populations. The objective of this study is to define the genetic causes of hereditary OC in African Americans (AA) as well as the spectrum of cancers, the age of onset, and the relative risk associated with mutations in non-BRCA1/2 genes. In year 2, we have enrolled an additional 98 high risk probands and 8 AA probands with OC for BROCA sequencing of 45 known or candidate OC genes. We continue to enroll probands and their relatives to better understand the genetic contribution to ovarian cancer and will focus on exome sequencing 30 families in year 3.

Descriptors :   Ovarian cancer , drug resistance , genes , deoxyribonucleic acids , MUTATIONS , African americans , HEREDITARY DISEASES , SEQUENCE ANALYSIS

Subject Categories : Medicine and Medical Research
      Genetic Engineering and Molecular Biology

Distribution Statement : APPROVED FOR PUBLIC RELEASE