An Atlas of Variant Effects to understand the genome at nucleotide resolution
Sequencing has revealed hundreds of millions of human genetic variants, and continued
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with
germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 …
germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 …
A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer
Studies continue to uncover contributing risk factors for breast cancer (BC) development
including genetic variants. Advances in machine learning and big data generated from …
including genetic variants. Advances in machine learning and big data generated from …
Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond
V Valentini, A Bucalo, G Conti, L Celli, V Porzio… - Cancers, 2024 - mdpi.com
Simple Summary The role of gender in oncology is an issue that is starting to be recognized
as being of extreme importance in the last few years. While breast cancer is commonly …
as being of extreme importance in the last few years. While breast cancer is commonly …
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants
The unknown pathogenicity of a significant number of variants found in cancer-related
genes is attributed to limited epidemiological data, resulting in their classification as variant …
genes is attributed to limited epidemiological data, resulting in their classification as variant …
[HTML][HTML] Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical …
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast …
L Stolarova, P Kleiblova, P Zemankova, B Stastna… - Clinical Cancer …, 2023 - AACR
Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer
risk (odds ratio, OR∼ 2.5), qualifying carriers for enhanced breast cancer screening …
risk (odds ratio, OR∼ 2.5), qualifying carriers for enhanced breast cancer screening …
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
A Lee, N Mavaddat, A Cunningham, T Carver… - Journal of medical …, 2022 - jmg.bmj.com
Background BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier
Estimation Algorithm) for breast cancer and the epithelial tubo-ovarian cancer (EOC) models …
Estimation Algorithm) for breast cancer and the epithelial tubo-ovarian cancer (EOC) models …
Saturation genome editing-based clinical classification of BRCA2 variants
S Sahu, M Galloux, E Southon, D Caylor, T Sullivan… - Nature, 2025 - nature.com
Sequencing-based genetic tests have uncovered a vast array of BRCA2 sequence variants.
Owing to limited clinical, familial and epidemiological data, thousands of variants are …
Owing to limited clinical, familial and epidemiological data, thousands of variants are …
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data
Background Deleterious germline variants in ATM and CHEK2 have been associated with a
moderately increased risk of breast cancer. Risks for other cancers remain unclear. Methods …
moderately increased risk of breast cancer. Risks for other cancers remain unclear. Methods …