Beyond GWASs: illuminating the dark road from association to function
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …
variation contributing to normal and pathological traits and clinical drug responses, but …
How many etiological subtypes of breast cancer: two, three, four, or more?
WF Anderson, PS Rosenberg, A Prat… - Journal of the …, 2014 - academic.oup.com
Breast cancer is a heterogeneous disease, divisible into a variable number of clinical
subtypes. A fundamental question is how many etiological classes underlie the clinical …
subtypes. A fundamental question is how many etiological classes underlie the clinical …
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
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 …
receptor α) in 118,816 subjects from three international consortia. We found evidence for at …
Capture Hi-C identifies putative target genes at 33 breast cancer risk loci
Genome-wide association studies (GWAS) have identified approximately 100 breast cancer
risk loci. Translating these findings into a greater understanding of the mechanisms that …
risk loci. Translating these findings into a greater understanding of the mechanisms that …
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 …
understood. Here we carry out a genome-wide association study of breast cancer in Latinas …
Evidence of gene–environment interactions between common breast cancer susceptibility loci and established environmental risk factors
Various common genetic susceptibility loci have been identified for breast cancer; however,
it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We …
it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We …
Genetic modifiers of CHEK2* 1100delC-associated breast cancer risk
TA Muranen, D Greco, C Blomqvist, K Aittomäki… - Genetics in …, 2017 - nature.com
Purpose: CHEK2* 1100delC is a founder variant in European populations that confers a two-
to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have …
to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have …
Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers
RL Milne, AC Antoniou - Endocrine-related cancer, 2016 - erc.bioscientifica.com
Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal-dominant
neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B) …
neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B) …
Common breast cancer risk variants in the post-COGS era: a comprehensive review
KN Maxwell, KL Nathanson - Breast Cancer Research, 2013 - Springer
Breast cancer has a strong heritable component, with approximately 15% of cases exhibiting
a family history of the disease. Mutations in genes such as BRCA1, BRCA2 and TP53 lead …
a family history of the disease. Mutations in genes such as BRCA1, BRCA2 and TP53 lead …