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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 ...
Operational complexity versus design efficiency: challenges of implementing a phase IIa multiple parallel cohort targeted treatment platform trial in advanced breast cancer.
(BMC, 2022-05-07)
BACKGROUND: Platform trial designs are used increasingly in cancer clinical research and are considered an efficient model for evaluating multiple compounds within a single disease or disease subtype. However, these trial ...
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
(AMER ASSOC CANCER RESEARCH, 2017-06-01)
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between ...
Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups.
(BIOMED CENTRAL LTD, 2016-10-18)
BACKGROUND: The value of KI67 in breast cancer prognostication has been questioned due to concerns on the analytical validity of visual KI67 assessment and methodological limitations of published studies. Here, we investigate ...
Heterogeneity in global gene expression profiles between biopsy specimens taken peri-surgically from primary ER-positive breast carcinomas.
(BIOMED CENTRAL LTD, 2016-04-01)
BACKGROUND: Gene expression is widely used for the characterisation of breast cancers. Variability due to tissue heterogeneity or measurement error or systematic change due to peri-surgical procedures can affect measurements ...
Breast cancer risk following Hodgkin lymphoma radiotherapy in relation to menstrual and reproductive factors.
(NATURE PUBLISHING GROUP, 2013-06-11)
BACKGROUND: Women treated with supradiaphragmatic radiotherapy (sRT) for Hodgkin lymphoma (HL) at young ages have a substantially increased breast cancer risk. Little is known about how menarcheal and reproductive factors ...
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
(BMC, 2014-05-26)
INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ...
Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
(LIPPINCOTT WILLIAMS & WILKINS, 2016-08-10)
PURPOSE: CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its ...
Two truncating variants in FANCC and breast cancer risk.
(NATURE PORTFOLIO, 2019-08-29)
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk ...
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
(NATURE PORTFOLIO, 2018-07-01)
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify ...