Associated Papers
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M et al.
Molecular Genetics and Genomics : Mgg, 2022
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ et al.
Leukemia, 2020
32555368 (PubMed )
Supplement: 41375_2020_899_MOESM1_ESM.docx
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
de Juan Jiménez I et al.
Familial Cancer, 2013
Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.
Esteban Cardeñosa E et al.
Breast Cancer Research and Treatment, 2010
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain.
Esteban Cardeñosa E et al.
Breast Cancer Research and Treatment, 2008
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