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Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
(2021-06-14)
<h4>Background</h4>We previously developed an African-ancestry-specific polygenic hazard score (PHS46+African) that substantially improved prostate cancer risk stratification in men with African ancestry. The model consists ...
Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer.
(2020-08-27)
Background There is an urgent need to identify factors specifically associated with aggressive prostate cancer (PCa) risk. We investigated whether rare pathogenic, likely pathogenic, or deleterious (P/LP/D) germline variants ...
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
(2021-06-10)
Purpose To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS 313 ) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant ...
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
(2016-08)
Background Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized ...
Exploration of the treatment challenges in men with intellectual difficulties and testicular cancer as seen in Down syndrome: single centre experience.
(2015-06-26)
Down syndrome is the most common chromosomal disorder in humans as well as the most common cause of inherited intellectual disability. A spectrum of physical and functional disability is associated with the syndrome as ...
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
(2018-12)
Purpose BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women ...
Functional analysis identifies damaging CHEK2 missense variants associated with increased cancer risk.
(2021-12-13)
Heterozygous carriers of germline loss-of-function variants in the tumor suppressor gene checkpoint kinase 2 (CHEK2) are at an increased risk for developing breast and other cancers. While truncating variants in CHEK2 are ...
DESNT: A Poor Prognosis Category of Human Prostate Cancer.
(2018-12)
Background A critical problem in the clinical management of prostate cancer is that it is highly heterogeneous. Accurate prediction of individual cancer behaviour is therefore not achievable at the time of diagnosis leading ...
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
(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 ...
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
(2019-07)
Background Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. Methods We applied a ...