We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade ...
Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the risk of breast and ovarian cancers. However, no association between BRCA1 germline mutation and glioblastoma malignancy has ever been highlighted. Here we report two cases of
Because genes are inherited from generation to generation, there is a 50% chance that a male carrier of a BRCA1 or BRCA2 mutation shares this mutated gene with their biological offspring. The earlier people are aware of the possibility of carrying a BRCA1 or BRCA2 mutation, the more their ...
Interestingly, RANK signaling acts on progenitor cells, which are also believed to be "seed cells" for triple-negative breast cancer in carriers with BRCA1/2 mutations [15]. We therefore speculated that RANKL/RANK might have a role in the etiology of BRCA1/2 mutation-driven breast cancer. ...
We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in t... O Díez,A Osorio,M Durán,... - 《Human Mutation》 被引量: 316发表: 2003年 High proportion of BRCA1/2 founder mutations in ...
BRCA mutation sta- tus has potential therapeutic implications, because those carrying such mutations have been shown to benefit from therapies that inhibit poly(ADP ribose)polymerase (PARP inhibitors).18,19 PALB2, a co-localizer and partner gene to BRCA2, is also proposed to be involved in ...
Altogether, a pathogenic mutation was found in 294 of 1,010 (29.1%) unrelated families (Tables 1 to 3). The spectrum of the BRCA1 mutations is summarised in Tables 1 and 3. As generally reported, the majority of the BRCA1 mutations were mutations leading to a premature stop codon (21 ...
Panel testing in 42 samples identified a known RAD51D variant, a high-risk ATM variant in another breast ovary family and a truncating CHEK2 mutation. Current exonic sequencing and copy number analysis variant detection methods of BRCA1/2 have high sensitivity in high-risk breast/ovarian cancer...
Risks were higher in recent vs. earlier birth cohorts (P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who ...
Found in one family in all affected females as well as in two unaffected females (below the age of onset for breast cancer) and two males. These polymorphisms cosegregate in this family with the W1218C mutation in Exon 19. This segregation analysis strongly suggests that the haplotype is ...