Associated Papers
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM3_ESM.xlsx › PrimaryTumors_forRNAseq
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13
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
Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.
Bozsik A et al.
International Journal of Molecular Sciences, 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
30702160 (PubMed )
Supplement: IJC-145-962-s007.xlsx › CIMBA
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
Edwinsdotter Ardnor C et al.
Familial Cancer, 2019
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
Pelttari LM et al.
Clinical Genetics, 2018
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
Tessereau C et al.
Nucleic Acids Research, 2014
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
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