Accession Number:

ADA544966

Title:

Identification, Characterization and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles

Descriptive Note:

Final rept. 1 Mar 2005-28 Feb 2011

Corporate Author:

INSTITUTE OF CANCER RESEARCH LONDON (UNITED KINGDOM)

Personal Author(s):

• Rahman, Nazneen

Report Date:

2011-03-01

Pagination or Media Count:

68.0

Abstract:

Enter a brief approximately 200 words unclassified summary of the most significant finding during the research period. There is considerable evidence that genetic factors play an important role in causing breast cancer, but the genes involved in the majority of breast cancers are currently unknown. Our aim was to identify genetic factors that increase the risk of breast cancer occurring by performing analyses in our unparalleled series familial breast cancer samples. Using a candidate gene familial case-control design we identified three new breast cancer genes, ATM, PALB2 and BRIP1. By performing the largest genome-wide association analysis undertaken to date, in 4000 familial breast cancer samples, we identified five new common genetic variants that predispose to breast cancer. In our final year we have optimized new sequencing technologies to analyse all genes known as the exome and undertook a pilot analysis of the exome in 20 familial breast cancer cases. We aim to use this technique in the future to uncover more of the genetic variants that cause breast cancer.

Descriptors:

• *BREAST CANCER
• *GENETICS
• CLINICAL MEDICINE
• GENOME
• GENES
• FAMILY MEMBERS
• RISK
• SAMPLING

Subject Categories:

• Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE