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MLPA analysis was performed using MRC-Holland probe sets for BRCA1 (P087/P002) and BRCA2 (P045/ P077) genes.
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.
smMIPs for BRCA1, BRCA2, and checkpoint kinase 2 (CHEK2) (GenBank reference sequences BRCA1: NM_007294.3, BRCA2: NM_00059.3, and CHEK2: NM_007194.3) were designed using the MIPgen pipeline (21).
The first attempt to associate BRCA2 with DNA damage response was as a cofactor associated with human RAD51-dependent DNA repair of double-strand breaks through 8 evolutionarily conserved BRC motifs encoded in exon 11 of BRCA2 (Figure 1) [30].
The patients included four women positive for BRCA1 mutations, and one positive for BRCA2.
To learn how the NEXTflex BRCA1 and BRCA2 Amplicon Panels can improve Illumina or Ion Torrent-based BRCA analysis, visit www.biooscientific.com/BRCA-panels.
Analysis consists of PCRbased, bidirectional Sanger sequencing of all translated exons and immediately adjacent intronic regions of the BRCA1/2 genes, as well as large rearrangement analysis by multiplex ligation-dependent probe amplification (MLPA) if a negative result was found of all BRCA1 (OMIM 113705/GenBank entry U14680) and BRCA2 (OMIM 600185/GenBank entry U43746) exons (Comprehensive BRACAnalysis[R] of Myriad Genetic Laboratory Munich, Germany).
De los canceres de mama hereditarios, hasta el 50% se debe a mutaciones en BRCA1 y el 40% en 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).
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.