A Breast Cancer Candidate Locus at 6q Narrowed to 6q15-q21

TL;DR

This study identifies a new breast cancer risk locus on chromosome 6q in a multi-generational family, narrowing it to a 17 MB region.

Contribution

The study confirms a new breast cancer locus at 6q and narrows it to a specific chromosomal interval.

Findings

A new breast cancer locus is strongly supported at chromosome 6q.

The 6q locus is narrowed down to a 17 MB interval at 6q15-q21.

Four breast cancer cases share a common 6q haplotype.

Abstract

Although a number of high-risk breast cancer genes have been identified, including BRCA1 and BRCA2, the risk profile of many high-risk families cannot be explained using known breast cancer genes. Previously, we have shown strong indications of new breast cancer risk loci at chromosomes 2p, 6q, and 14q in a family of six generations including 10 breast cancer cases. In this study, we identified and traced four new family branches descending from siblings of the parents in the top generation of the studied family. One distantly related branch included four breast cancer cases, two of whom were diagnosed at age < 45 years. DNA samples from the cases were typed at selected polymorphic markers from all three chromosome loci, to test identical origin of the haplotypes. All four cases were shown to segregate a common 6q haplotype with a region identical to the previously identified 6q haplotype. The data strongly support a new breast cancer locus at 6q, and narrow it down to a 17 MB interval at 6q15-q21.

Figures