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Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
(AMER MEDICAL ASSOC, 2019-05-03)
IMPORTANCE: Increasing BRCA1 and BRCA2 (collectively termed herein as BRCA) gene testing is required to improve cancer management and prevent BRCA-related cancers. OBJECTIVE: To evaluate mainstream genetic testing using ...
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
(NATURE PORTFOLIO, 2021-02-17)
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in ...
Molecular characterisation of aromatase inhibitor-resistant advanced breast cancer: the phenotypic effect of ESR1 mutations.
(SPRINGERNATURE, 2019-01-22)
BACKGROUND: Several thousand breast cancer patients develop resistance to aromatase inhibitors (AIs) each year in the UK. Rational treatment requires an improved molecular characterisation of resistant disease. MATERIALS ...
Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer.
(ELSEVIER, 2017-10-04)
BACKGROUND: Selection of resistance mutations may play a major role in the development of endocrine resistance. ESR1 mutations are rare in primary breast cancer but have high prevalence in patients treated with aromatase ...
Risk of breast cancer in men in relation to weight change: A national case-control study in England and Wales.
(WILEY, 2022-06-01)
Breast cancer is uncommon in men and knowledge about its causation limited. Obesity is a risk factor but there has been no investigation of whether weight change is an independent risk factor, as it is in women. In a ...
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.
(OXFORD UNIV PRESS, 2016-09-01)
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...
Menopausal hormone therapy and breast cancer: what is the true size of the increased risk?
(NATURE PUBLISHING GROUP, 2016-08-23)
BACKGROUND: Menopausal hormone therapy (MHT) increases breast cancer risk; however, most cohort studies omit MHT use after enrolment and many infer menopausal age. METHODS: We used information from serial questionnaires ...
The Premenopausal Breast Cancer Collaboration: A Pooling Project of Studies Participating in the National Cancer Institute Cohort Consortium.
(AMER ASSOC CANCER RESEARCH, 2017-09-01)
Breast cancer is a leading cancer diagnosis among premenopausal women around the world. Unlike rates in postmenopausal women, incidence rates of advanced breast cancer have increased in recent decades for premenopausal ...
Reproducibility of Digital PCR Assays for Circulating Tumor DNA Analysis in Advanced Breast Cancer.
(PUBLIC LIBRARY SCIENCE, 2016-10-19)
Circulating tumor DNA (ctDNA) analysis has the potential to allow non-invasive analysis of tumor mutations in advanced cancer. In this study we assessed the reproducibility of digital PCR (dPCR) assays of circulating tumor ...
Childhood body size and pubertal timing in relation to adult mammographic density phenotype.
(BMC, 2017-02-07)
BACKGROUND: An earlier age at onset of breast development and longer time between pubertal stages has been implicated in breast cancer risk. It is not clear whether associations of breast cancer risk with puberty or ...