Genetic susceptibility to breast cancer.

Abstract:

:Genetic and lifestyle/environmental factors are implicated in the aetiology of breast cancer. This review summarizes the current state of knowledge on rare high penetrance mutations, as well as moderate and low-penetrance genetic variants implicated in breast cancer aetiology. We summarize recent discoveries from large collaborative efforts to combine data from candidate gene studies, and to conduct genome-wide association studies (GWAS), primarily in breast cancers in the general population. These findings are compared with results from collaborative efforts aiming to identify genetic modifiers in BRCA1 and BRCA2 carriers. Breast cancer is a heterogeneous disease, and tumours from BRCA1 and BRCA2 carriers display distinct pathological characteristics when compared with tumours unselected for family history. The relationship between genetic variants and pathological subtypes of breast cancer, and the implication of discoveries of novel genetic variants to risk prediction in BRCA1/2 mutation carriers and in populations unselected for mutation carrier status, are discussed.

journal_name

Mol Oncol

journal_title

Molecular oncology

authors

Mavaddat N,Antoniou AC,Easton DF,Garcia-Closas M

doi

10.1016/j.molonc.2010.04.011

subject

Has Abstract

pub_date

2010-06-01 00:00:00

pages

174-91

issue

3

eissn

1574-7891

issn

1878-0261

pii

S1574-7891(10)00033-5

journal_volume

4

pub_type

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