Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

ABSTRACT:

Background

Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by age 80 in women carrying a BRCA1 pathogenic variant is 72%. The lifetime risk varies between families and even within affected individuals of the same family. The cause of this variability is largely unknown, but it is hypothesized that additional genetic factors contribute to differences in age at onset (AAO). Here we investigated whether truncating and rare missense variants in genes of different DNA-repair pathways contribute to this phenomenon.

Methods

We used extreme phenotype sampling to recruit 133 BRCA1-positive patients with either early breast cancer onset, below 35 (early AAO cohort) or cance

SUBMITTER: Sepahi I 

PROVIDER: S-EPMC6686546 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature