The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
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 …

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips… - Jama, 2017 - jamanetwork.com
Importance The clinical management ofBRCA1andBRCA2mutation carriers requires
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

SR Rashkin, RE Graff, L Kachuri, KK Thai… - Nature …, 2020 - nature.com
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
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 genotyping projects totaling 25,509 EOC …

[PDF][PDF] Variant interpretation: functional assays to the rescue

LM Starita, N Ahituv, MJ Dunham, JO Kitzman… - The American Journal of …, 2017 - cell.com
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …

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 …

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 …

Ovarian cancer

GC Jayson, EC Kohn, HC Kitchener, JA Ledermann - The Lancet, 2014 - thelancet.com
Epithelial ovarian cancer is the commonest cause of gynaecological cancer-associated
death. The disease typically presents in postmenopausal women, with a few months of …

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
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∼ …