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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
(NATURE PORTFOLIO, 2016-09-07)
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis ...
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
(CELL PRESS, 2019-01-03)
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ...
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. ...
Exposure to loud noise and risk of vestibular schwannoma: results from the INTERPHONE international case‒control study.
(SCANDINAVIAN JOURNAL WORK ENVIRONMENT & HEALTH, 2018-11-05)
Objective Studies of loud noise exposure and vestibular schwannomas (VS) have shown conflicting results. The population-based INTERPHONE case‒control study was conducted in 13 countries during 2000-2004. In this paper, we ...
Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study.
(WILEY, 2019-09-15)
The constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple ...
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
(NATURE PORTFOLIO, 2018-04-09)
Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform ...
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
(NATURE PORTFOLIO, 2016-11-09)
Pre-surgical studies allow study of the relationship between mutations and response of oestrogen receptor-positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in phase I ...