Associated Papers
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.
Tibiletti MG et al.
Tumori, 2024
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Corso G et al.
Jama Network Open, 2024
38652475 (PubMed )
Supplement: jamanetwopen-e247862-s001.pdf
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!
Magliacane G et al.
Cancers, 2022
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
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
De Talhouet S et al.
Scientific Reports, 2020
32341426 (PubMed )
Supplement: 41598_2020_63759_MOESM1_ESM.pdf
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
Diop JPD et al.
Bmc Medical Genetics, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
Veschi S et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007
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