The cloning of the breast cancer susceptibility genes BRCA1 and BRCA2 nearly two
decades ago helped set in motion an avalanche of research exploring how genomic …

Abstract Polygenic Risk Scores (PRS) are a major component of accurate breast cancer risk
prediction and have the potential to improve screening and prevention strategies. PRS …

Background: Data for multiple common susceptibility alleles for breast cancer may be
combined to identify women at different levels of breast cancer risk. Such stratification could …

Background Sarcomas are rare, phenotypically heterogeneous cancers that
disproportionately affect the young. Outside rare syndromes, the nature, extent, and clinical …

Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

Purpose Gene panel sequencing is revolutionizing germline risk assessment for hereditary
breast cancer. Despite scant evidence supporting the role of many of these genes in breast …

Breast cancer risk assessment can inform the use of screening and prevention modalities.
We investigated the performance of the Breast Cancer Surveillance Consortium (BCSC) risk …

Polygenic factors are estimated to account for an additional 18% of the familial relative risk
of breast cancer, with those at the highest level of polygenic risk distribution having a least a …

Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi
Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations …

Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …