TY - JOUR
T1 - Common genetic variation and breast cancer Risk—Past, present, and future
AU - Lilyquist, Jenna
AU - Ruddy, Kathryn J.
AU - Vachon, Celine M.
AU - Couch, Fergus J.
N1 - Funding Information:
F.J. Couch reports receving a commercial research grant from GRAIL Inc. and is a cousultant/ advisory board member for Astrazeneca. No potential conflicts of interest were disclosed by the other authors.
Funding Information:
K.J. Ruddy was supported by a training grant under the CTSA Grant Program Numbers UL1 TR000135 and KL2TR000136-09 from the National
Publisher Copyright:
© 2018 American Association for Cancer Research.
PY - 2018/4
Y1 - 2018/4
N2 - Breast cancer is the most common cancer among women in the United States, with up to 30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the familial risk of breast cancer can be explained by SNPs. This review summarizes the discovery of risk-associated SNPs using candidate gene and genome-wide association studies (GWAS), including discovery and replication in large collaborative efforts such as The Collaborative Oncologic Gene-environment Study and OncoArray. We discuss the evolution of GWAS studies, efforts to discover additional SNPs, and methods for identifying causal variants. We summarize findings associated with overall breast cancer, patho-logic subtypes, and mutation carriers (BRCA1, BRCA2, and CHEK2). In addition, we summarize the development of polygenic risk scores (PRS) using the risk-associated SNPs and show how PRS can contribute to estimation of individual risks for developing breast cancer.
AB - Breast cancer is the most common cancer among women in the United States, with up to 30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the familial risk of breast cancer can be explained by SNPs. This review summarizes the discovery of risk-associated SNPs using candidate gene and genome-wide association studies (GWAS), including discovery and replication in large collaborative efforts such as The Collaborative Oncologic Gene-environment Study and OncoArray. We discuss the evolution of GWAS studies, efforts to discover additional SNPs, and methods for identifying causal variants. We summarize findings associated with overall breast cancer, patho-logic subtypes, and mutation carriers (BRCA1, BRCA2, and CHEK2). In addition, we summarize the development of polygenic risk scores (PRS) using the risk-associated SNPs and show how PRS can contribute to estimation of individual risks for developing breast cancer.
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U2 - 10.1158/1055-9965.EPI-17-1144
DO - 10.1158/1055-9965.EPI-17-1144
M3 - Editorial
C2 - 29382703
AN - SCOPUS:85045519018
SN - 1055-9965
VL - 27
SP - 380
EP - 394
JO - Cancer Epidemiology Biomarkers and Prevention
JF - Cancer Epidemiology Biomarkers and Prevention
IS - 4
ER -