Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3
BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.
Ghouil R et al.
Nature Communications, 2021
34326328 (PubMed )
Supplement: 41467_2021_24871_MOESM2_ESM.pdf
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Meulemans L et al.
Cancer Research, 2020
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Zayas-Villanueva OA et al.
Bmc Cancer, 2019
31331294 (PubMed )
Supplement: 12885_2019_5950_MOESM1_ESM.xlsx › Healthy
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
30630528 (PubMed )
Supplement: 40246_2018_188_MOESM3_ESM.xlsx › Hoja1
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
Quezada Urban R et al.
Cancers, 2018
30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf
A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans.
Goebel K et al.
Veterinary Medicine and Science, 2017
A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.
Warren CR et al.
Experimental Cell Research, 2011
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
Ruiz-Flores P et al.
Human Mutation, 2002
[Breast cancer genetics. BRCA1 and BRCA2: the main genes for disease predisposition].
Ruiz-Flores P et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0
Clinical follow up of mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes.
Calderón-Garcidueñas AL et al.
Salud Publica De Mexico, 0
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