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Este es el primer estudio que demuestra la importancia de estudiar las mutaciones BRCA1 y BRCA2 en todas las mujeres colombianas con cancer de mama no seleccionadas por antecedentes, para realizar deteccion de alta susceptibilidad en el entorno familiar y establecer medidas preventivas.
However, ovary removal was associated with a 72 percent breast cancer risk reduction in women with BRCA2 mutations--nearly twice the reduction in breast cancer risk, compared with women who had the BRCA1 mutations.
A los individuos cuya historia personal y familiar es sugestiva del sindrome de predisposicion al cancer de mama y ovario hereditario, se les debe ofrecer realizar el estudio genetico de BRCA1 y BRCA2 en linea germinal pero siempre en el contexto de un asesoramiento o consejo genetico adecuado que debe ser facilitado por personal con experiencia en esta disciplina (16, 22).
BRCA1 gene, located in chromosome 17 (locus: 17q12-q21), was identified in 1990 after studying 23 families with a total of 143 cases of breast and ovarian cancer (16), while BRCA2 gene was identified in 1994 in chromosome 13 (locus: 13q12-q13) through a study that analyzed 15 families at high risk of familial breast cancer, including male cases (17-19).
However, our study shows that there are many more people who have cancers that look like they have the same signatures and same weakness as patients with faulty BRCA1 and BRCA2 genes.
For validation of smMIPs for clinical BRCA1 and BRCA2 sequencing, 166 human genomic DNA samples were analyzed, 90 samples carrying a pathogenic variant in BRCA1, and 77 samples carrying a pathogenic variant in BRCA2.
De los canceres de ovario hereditarios el 90% se debe a mutaciones en BRCA1 y entre el 5 al 10% en BRCA2 (12, 13).
BRCA1 and BRCA2 are the major genes associated with hereditary breast cancer susceptibility [3, 4].
An interesting case involving patent eligibility of isolated and purified DNA of the human BRCA1 and BRCA2 genes, where specific mutations confer susceptibility to breast and ovarian cancers in women (and breast and prostate cancer in men, but with a lower frequency) is that of The Association for Molecular Pathology v.
RAD51 filament formation is mediated by the BRCA2 tumour suppressor, mutations in which lead to a high incidence of developing breast cancer.
Among women who carry BRCA1 or BRCA2 mutations, the type and exact location of the mutation influences the risk it confers for breast and ovarian cancer, a study showed.