Associated Papers
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › MNS_only
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
Santonocito C et al.
Breast (edinburgh, Scotland), 2017
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A et al.
Expert Review of Molecular Diagnostics, 2015
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
Concolino P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Select a paper to view details