No germ-line mutations were found in the present material, but the number of AR polyglutamine repeats tended to be lower among mutation carriers. Most surprisingly, only one of the seven BRCA2 mutation carriers had a positive family history of breast cancer, suggesting a lower penetrance of ...
We observed a highly significant association of carrying a pathogenic BRCA2 mutation with high tumor grade ( P <0.001) and a weak association with positive lymph nodes ( P <0.02). Of the 97 BRCA2 -negative MBC cases, we identified one PALB2 mutation with confirmed pathogenicity and one ...
The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. 2016 Society ...
BRCA1 and BRCA2 Mutation Status and Tumor Characteristics in Male Breast Cancer A Population-based Study in Italy To investigate at the population level the impact of BRCA1/BRCA2 gene alterations in male breast cancer, we analyzed a population-based series of 25 male b... L Ottini,G Masala...
The PCR reactions of the BRCA2 c.156_157insAlu were run with a positive control. The gene reference sequences were NG_005905.2, NG_012772.3, NG_008150.1 and NG_017013.2, which are available in GenBank (NCBI, NIH, USA). The sequences were analyzed using the CLC Bio sequence viewer ...
D. et al. Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma. Cancer 98, 1569–1577 (2003). PubMed Google Scholar Goffin, J. R. et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis...
Mutation carriers were indistinguishable from noncarriers on the basis of median (range) age at lymphoma diagnosis (12.8 [6.0-17.7] years vs 13.5 [1.1-22.7] years; P = .40). All 8 survivors of non–Hodgkin lymphoma with BRCA2 mutations were male. In a comparison with controls without...
(1 inBRCA1and 2 inBRCA2), including the recurrent mutation c.6405_6409delCTTAA (0.5%) [37]. Therefore, 42 different pathogenic point mutations inBRCAwere described in the cohorts A, B and C in Brazil. All patients positive forBRCAmutations had a family history of BC (Additional file1:...
Mutations in BRCA2 have also been linked to male breast cancer (Easton et al. 1997; Couch et al. 1996). Unlike many genes that contain mutation "hot-spots," genetic variants are dispersed throughout the BRCA2 gene. Approximately 83 of 684 genetic variants recorded in BRCA2 occur in ...
A relatively small SNP association study found a positive (OR 1.36), but non-significant associ- ation of the variant with bilateral breast cancer10, and the iCOGs analysis found an increased risk of breast cancer associated with this variant11. A complicating factor in attributing breast cancer...