[HTML][HTML] CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

L Stolarova, P Kleiblova, M Janatova, J Soukupova… - Cells, 2020 - mdpi.com
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 …

Ovarian cancer prevention and screening

U Menon, C Karpinskyj… - Obstetrics & …, 2018 - journals.lww.com
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 …

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

X Yang, G Leslie, A Doroszuk, S Schneider… - Journal of clinical …, 2020 - ascopubs.org
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 …

[HTML][HTML] Pathogenic germline variants in 10,389 adult cancers

K Huang, RJ Mashl, Y Wu, DI Ritter, J Wang, C Oh… - Cell, 2018 - cell.com
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 …

Management of hereditary breast cancer: American society of clinical oncology, American society for radiation oncology, and society of surgical oncology guideline

NM Tung, JC Boughey, LJ Pierce… - Journal of clinical …, 2020 - ascopubs.org
PURPOSE To develop recommendations for management of patients with breast cancer
(BC) with germline mutations in BC susceptibility genes. METHODS The American Society …

Implementation of germline testing for prostate cancer: Philadelphia Prostate Cancer Consensus Conference 2019

VN Giri, KE Knudsen, WK Kelly, HH Cheng… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE Germline testing (GT) is a central feature of prostate cancer (PCA) treatment,
management, and hereditary cancer assessment. Critical needs include optimized …

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

P Polak, J Kim, LZ Braunstein, R Karlic… - Nature …, 2017 - nature.com
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 …

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 …

Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers

MJ Hall, R Bernhisel, E Hughes, K Larson… - Cancer Prevention …, 2021 - AACR
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 …

The genetic changes of Wilms tumour

TD Treger, T Chowdhury, K Pritchard-Jones… - Nature Reviews …, 2019 - nature.com
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 …