Dataset Information

The contribution of germline rearrangements to the spectrum of BRCA2 mutations.

ABSTRACT:

Background

Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer.

Objective

To estimate the contribution of large genomic rearrangements to the spectrum of BRCA2 defects.

Methods

Quantitative multiplex PCR of short fluorescent fragments (QMPSF) was used to screen the BRCA2 gene for germline rearrangements in highly selected families. QMPSF was previously used to detect heterozygous deletions/duplications in many genes including BRCA1 and BRCA2.