Germ-line mutation in the BRCA2 gene confers an increased risk of breast cancer. An elevation of additional genetic defects in tumors of patients with germ-line mutation in the BRCA2 gene compared with sporadic breast tumors has been reported. To evaluate the nature of the difference, we did detailed mapping of chromosomes 1p, 3p, 6q, 11, 13q, 16q, 17, and 20q, using microsatellite markers. We ...

BACKGROUND The incidence of esophageal squamous cell cancer (ESCC) is strikingly variable by geographic area, which reflect different exposures to risk factors, including genetic predisposition. Previous studies of ESCC patients from several high-risk populations suggested that BRCA2 might play a role in the etiology. This study was conducted to screen for mutations of BRCA2 gene in ESCC cases ...

In most organisms, the primary function of homologous recombination (HR) is to allow genome protection by the faithful repair of DNA double-strand breaks. The vital step of HR is the search for sequence homology, mediated by the RAD51 recombinase, which is stimulated further by proteins mediators such as the tumor suppressor BRCA2. The biochemical interplay between RAD51 and BRCA2 is unknown in...

BACKGROUND Most of breast cancers are considered sporadic and modulation of the two major genes BRCA1 and BRCA2 expressions caused by tissue-specific somatic mutations lead to this pathology. The nutritional intake of phytoestrogens seems to reduce the risk of breast cancer and investigation of their potential as anticancer agents has increased. However, the possible mechanisms and signalling p...

Breast cancer is a rare disease in men and represents only approximately 1% of all breast cancer cases. Several factors have been reported to increase the risk for male breast cancer, including alteration in hormonal status, Klinefelter’s syndrome, family history of breast cancer, and occupational exposures to high temperature, electromagnetic fields, and radiation. 3 Germline mutations in the ...

Men who carry germline mutations in the BRCA2 gene have a higher risk of developing breast carcinoma than men in the general population. Men who carry germline mutations in the BRCA1 gene may also be at a higher risk for breast carcinoma, but this association is not as well established. We evaluated the risks of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers in the US po...

Homologous recombination (HR) is a template-driven repair pathway that mends DNA double-stranded breaks (DSBs), and thus helps to maintain genome stability. The RAD51 recombinase facilitates DNA joint formation during HR, but to accomplish this task, RAD51 must be loaded onto the single-stranded DNA. DSS1, a candidate gene for split hand/split foot syndrome, provides the ability to recognize RP...

To the Editor : In the 16 years since the discovery of BRCA1 and BRCA2, only one de novo mutation in the BRCA1 gene and four de novo mutations in the BRCA2 gene have been reported in the literature (1–5). No systematic study of de novo mutation prevalence has been performed. This is surprising, given that the rates of de novo mutations can be as high as 30–50% for genes such as NF1, RET, and AP...

We describe the identification of a large deletion in the BRCA2 gene as the disease-causing mutation in a Swedish breast/ovarian cancer family. The 5068-bp deletion encompassed the 3' region of exon 3, including the 3' splice site and most of intron 3, and it resulted on the mRNA level in an inframe exon 3 skipping. The junction site also included an insertion of 4 bp (CCAT). The mutation (nt50...