학술논문
Genome-wide association study of endometrial cancer in E2C2
Document Type
Original Paper
Author
De Vivo, Immaculata; Prescott, Jennifer; Setiawan, Veronica Wendy; Olson, Sara H.; Wentzensen, Nicolas; Attia, John; Black, Amanda; Brinton, Louise; Chen, Chu; Chen, Constance; Cook, Linda S.; Crous-Bou, Marta; Doherty, Jennifer; Dunning, Alison M.; Easton, Douglas F.; Friedenreich, Christine M.; Garcia-Closas, Montserrat; Gaudet, Mia M.; Haiman, Christopher; Hankinson, Susan E.; Hartge, Patricia; Henderson, Brian E.; Holliday, Elizabeth; Horn-Ross, Pamela L.; Hunter, David J.; Le Marchand, Loic; Liang, Xiaolin; Lissowska, Jolanta; Long, Jirong; Lu, Lingeng; Magliocco, Anthony M.; McEvoy, Mark; O’Mara, Tracy A.; Orlow, Irene; Painter, Jodie N.; Pooler, Loreall; Rastogi, Radhai; Rebbeck, Timothy R.; Risch, Harvey; Sacerdote, Carlotta; Schumacher, Fredrick; Scott, Rodney J.; Sheng, Xin; Shu, Xiao-ou; Spurdle, Amanda B.; Thompson, Deborah; VanDen Berg, David; Weiss, Noel S.; Xia, Lucy; Xiang, Yong-Bing; Yang, Hannah P.; Yu, Herbert; Zheng, Wei; Chanock, Stephen; Kraft, Peter; The Australian National Endometrial Cancer Study Group
Source
Human Genetics. February 2014 133(2):211-224
Subject
Language
English
ISSN
0340-6717
1432-1203
1432-1203
Abstract
Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.