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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
(NATURE PUBLISHING GROUP, 2017-05-01)
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 suggested that the risk associated with ...
E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.
(NATURE PORTFOLIO, 2018-04-26)
E-cadherin (CDH1) is a putative tumor suppressor gene implicated in breast carcinogenesis. Yet, whether risk factors or survival differ by E-cadherin tumor expression is unclear. We evaluated E-cadherin tumor immunohistochemistry ...
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
(CELL PRESS, 2016-10-06)
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 ...
Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.
(OXFORD UNIV PRESS INC, 2019-03-01)
A balanced robertsonian translocation (rob) results from fusion of 2 acrocentric chromosomes. Carriers are phenotypically normal and are often diagnosed because of recurrent miscarriages, infertility, or aneuploid offspring. ...
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
(BMJ PUBLISHING GROUP, 2016-12-01)
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ...
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016-05-01)
OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer ...
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
(NATURE PORTFOLIO, 2017-12-01)
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ...
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
(NATURE PORTFOLIO, 2019-04-15)
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue ...
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
(NATURE PUBLISHING GROUP, 2019-05-14)
Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that ...
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
(AMER SOC HEMATOLOGY, 2018-11-08)
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL ...