Associated Papers
In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.
Stella S et al.
Genes, 2024
The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.
Grigore LG et al.
Current Issues in Molecular Biology, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC et al.
Scientific Reports, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M et al.
Cancers, 2021
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
Foglietta J et al.
Genes, 2020
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.
D'Argenio V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Silva FC et al.
Bmc Medical Genetics, 2014
BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.
Juwle A et al.
Medical Oncology (northwood, London, England), 2012
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Konstantopoulou I et al.
Breast Cancer Research and Treatment, 2008