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Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)
Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ...
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
(ELSEVIER, 2019-09-18)
BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 ...
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
(NATURE PUBLISHING GROUP, 2018-03-20)
This corrects the article DOI: 10.1038/bjc.2017.429.
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 ...
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
(SPRINGERNATURE, 2016-04-12)
BACKGROUND: Germline mutations within DNA-repair genes are implicated in susceptibility to multiple forms of cancer. For prostate cancer (PrCa), rare mutations in BRCA2 and BRCA1 give rise to moderately elevated risk, ...
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
(AMER MEDICAL ASSOC, 2017-05-01)
IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding ...