Genetic susceptibility to triple-negative breast cancer

KN Stevens, CM Vachon, FJ Couch - Cancer research, 2013 - AACR
Triple-negative breast cancers (TNBC), defined by the absence of estrogen receptor,
progesterone receptor, and HER-2 expression, account for 12% to 24% of all breast …

An interactive resource to probe genetic diversity and estimated ancestry in cancer cell lines

J Dutil, Z Chen, AN Monteiro, JK Teer, SA Eschrich - Cancer research, 2019 - AACR
Recent work points to a lack of diversity in genomics studies from genome-wide association
studies to somatic (tumor) genome analyses. Yet, population-specific genetic variation has …

Leveraging functional-annotation data in trans-ethnic fine-map** studies

G Kichaev, B Pasaniuc - The American Journal of Human Genetics, 2015 - cell.com
Localization of causal variants underlying known risk loci is one of the main research
challenges following genome-wide association studies. Risk loci are typically dissected …

Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction

G Jia, J **, X Guo, Y Yang, R Tao, B Li, S Ambs… - Nature …, 2024 - nature.com
We performed genome-wide association studies of breast cancer including 18,034 cases
and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with …

Loss-of-function variants in ATM confer risk of gastric cancer

H Helgason, T Rafnar, HS Olafsdottir, JG Jonasson… - Nature …, 2015 - nature.com
Gastric cancer is a serious health problem worldwide, with particularly high prevalence in
eastern Asia. Genome-wide association studies (GWAS) in Asian populations have …

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

AM Dunning, K Michailidou, KB Kuchenbaecker… - Nature …, 2016 - nature.com
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen
receptor α) in 118,816 subjects from three international consortia. We found evidence for at …

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

T Rafnar, B Gunnarsson, OA Stefansson… - Nature …, 2018 - nature.com
Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-
analysis of two genome-wide association studies of leiomyoma in European women (16,595 …

Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25

L Fejerman, N Ahmadiyeh, D Hu, S Huntsman… - Nature …, 2014 - nature.com
The genetic contributions to breast cancer development among Latinas are not well
understood. Here we carry out a genome-wide association study of breast cancer in Latinas …

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

S Lindström, DJ Thompson, AD Paterson, J Li… - Nature …, 2014 - nature.com
Mammographic density reflects the amount of stromal and epithelial tissues in relation to
adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the …

Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers

DR Barnes, AC Antoniou - Journal of internal medicine, 2012 - Wiley Online Library
Barnes DR, Antoniou AC (Centre for Cancer Genetic Epidemiology, University of
Cambridge, Cambridge, UK). Unravelling modifiers of breast and ovarian cancer risk for …