Germline alterations in many genes coding for proteins regulating DNA repair and DNA
damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as …

Financial Disclosure Prof. Menon has stock ownership and has received research funding
from Abcodia Ltd, a UCL spinout company with an interest in biomarkers and commercial …

We conducted the largest investigation of predisposition variants in cancer to date,
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and
to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers …

Biallelic inactivation of BRCA1 or BRCA2 is associated with a pattern of genome-wide
mutations known as signature 3. By analyzing∼ 1,000 breast cancer samples, we confirmed …

PURPOSE To develop recommendations for management of patients with breast cancer
(BC) with germline mutations in BC susceptibility genes. METHODS The American Society …

PURPOSE Germline testing (GT) is a central feature of prostate cancer (PCA) treatment,
management, and hereditary cancer assessment. Critical needs include optimized …

Background Genome-wide association studies (GWAS) have identified 94 common single-
nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 …

Pathogenic variants (PVs) in ATM are relatively common, but the scope and magnitude of
risk remains uncertain. This study aimed to estimate ATM PV cancer risks independent of …

Wilms tumour is the most common renal malignancy of childhood. The disease is curable in
the majority of cases, albeit at considerable cost in terms of late treatment-related effects in …