Genetic susceptibility to breast cancer

被引：245

作者：

Mavaddat, Nasim ^{[2
]}

Antoniou, Antonis C. ^{[2
]}

Easton, Douglas F. ^{[2
]}

Garcia-Closas, Montserrat ^{[1
,3
]}

机构：

[1] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Cambridge CB1 8RN, England

[2] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[3] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA

来源：

MOLECULAR ONCOLOGY | 2010年 / 4卷 / 03期

关键词：

Breast cancer; Genetic susceptibility; Aetiology of breast cancer; BRCA1/2 mutation carriers; Pathology; GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; KERATINOCYTE GROWTH-FACTOR; BILATERAL PROPHYLACTIC MASTECTOMY; ESTROGEN-RECEPTOR STATUS; REDUCING SALPINGO-OOPHORECTOMY; DEL PROMOTER POLYMORPHISM; AFRICAN-AMERICAN WOMEN; PROGESTERONE-RECEPTOR; FAMILIAL BREAST;

D O I：

10.1016/j.molonc.2010.04.011

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. (C) 2010 Published by Elsevier B.V. on behalf of Federation of European Biochemical Societies.

引用

页码：174 / 191

页数：18

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