The personal and clinical utility of polygenic risk scores
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …
promised to rapidly transform personalized medicine with individualized disease risk …
[HTML][HTML] Epidemiology of ovarian cancer: a review
BM Reid, JB Permuth, TA Sellers - Cancer biology & medicine, 2017 - ncbi.nlm.nih.gov
Ovarian cancer (OC) is the seventh most commonly diagnosed cancer among women in the
world and the tenth most common in China. Epithelial OC is the most predominant …
world and the tenth most common in China. Epithelial OC is the most predominant …
Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
Importance The clinical management ofBRCA1andBRCA2mutation carriers requires
accurate, prospective cancer risk estimates. Objectives To estimate age-specific risks of …
accurate, prospective cancer risk estimates. Objectives To estimate age-specific risks of …
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar… - Nature …, 2017 - nature.com
To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genoty** projects totaling 25,509 EOC …
(EOC), we pooled data from multiple genome-wide genoty** projects totaling 25,509 EOC …
Variant interpretation: functional assays to the rescue
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …
segregation studies, require finding many individuals with each variant. Because the …
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
KB Kuchenbaecker, L McGuffog… - JNCI: Journal of the …, 2017 - academic.oup.com
Background Genome-wide association studies (GWAS) have identified 94 common single-
nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 …
nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 …
Realizing the promise of cancer predisposition genes
N Rahman - Nature, 2014 - nature.com
Genes in which germline mutations confer highly or moderately increased risks of cancer
are called cancer predisposition genes. More than 100 of these genes have been identified …
are called cancer predisposition genes. More than 100 of these genes have been identified …
Ovarian cancer
Epithelial ovarian cancer is the commonest cause of gynaecological cancer-associated
death. The disease typically presents in postmenopausal women, with a few months of …
death. The disease typically presents in postmenopausal women, with a few months of …
Large-scale genoty** identifies 41 new loci associated with breast cancer risk
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …
been identified as associated with susceptibility to breast cancer, and these account for∼ …