Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status.

ABSTRACT:

Background

Mutations in the BRCA1 (MIM 113705) gene are found in many families with multiple cases of breast and ovarian cancer, and women with a BRCA1 mutation are at significantly higher risk of developing breast and ovarian cancer than are the general public.

Methods

We obtained blood samples and pedigree information from 3568 unselected cases of early-onset breast cancer and 609 unselected patients with ovarian cancer from hospitals throughout Poland. Genetic testing was performed for three founder BRCA1 mutations. We also calculated the risk of breast and ovarian cancer to age 75 in the first degree relatives of carriers using Kaplan-Meier methods.

Results

The three founder BRCA1 mutations were identified in 273 samples (187 with 5382insC, 22 with 4153delA, and 6

SUBMITTER: Gronwald J 

PROVIDER: S-EPMC2564518 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature