A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

ABSTRACT:

Introduction

Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families. Information about cancer family history is usually available, but has rarely been used to evaluate UVs. The aim of the present study was to identify which is the best combination of clinical parameters that can predict whether a UV is deleterious, to be used for the classification of UVs.

Methods

We developed logistic regression models with the best combination of clinical features that distinguished a positive control of BRCA pathogenic variants (115 families) from a negative control population of BRCA variants initially classified as UVs and later considered neutral (38 families).

Results

The models included a combinati

SUBMITTER: Gomez Garcia EB 

PROVIDER: S-EPMC2687711 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature