27th HUGO-IABCR Congress 2010: Oral Presentation Abstracts, 5–7 October 2010, Singapore

doi:10.1007/s11568-010-9146-x

Abstract

Highlights

The ability to identify disease-causing mutations in high risk breast cancer families has broad implications for those affected, in terms of risk assessment and management as well as treatment
After excluding all variants reported in dbSNP, an average of 5 novel nonsense Single nucleotide polymorphisms (SNPs) and 20 frame-shift indels are identified per index case
In the BRCA2 family, the index case used for diagnostic BRCA2 sequencing was a phenocopy and did not carry the mutation

Summary

Introduction

The ability to identify disease-causing mutations in high risk breast cancer families has broad implications for those affected, in terms of risk assessment and management as well as treatment. We are performing whole exome sequence analysis of germline DNA from multiple affected relatives from over 75 high risk nonBRCA1/non-BRCA2 breast cancer families with the aim of identifying segregating, rare, non-synonymous variants that are likely to include novel predisposing mutations. Two potential breast cancer predisposing genes have been identified.

Results

Conclusion