![stranded deep trainer 0.11 stranded deep trainer 0.11](https://programindir.cafe/wp-content/uploads/2020/04/Stranded-Deep-1.jpg)
The pathogenic role of the germline BRCA2 c.9976A>T and c.10095delinsGAATTATATCT variants in hereditary breast and ovarian cancer (HBOC) patients was evaluated. The clinical relevance of the BRCA2 C-terminal stop codon variants is controversial. The c.9976A>T variant may be considered as a potential risk for lung cancer, and a potential modifying factor in pancreatic cancer when it occurs along with the pathogenic BRCA1 variant, although this observation should be validated in a larger sample cohort.
![stranded deep trainer 0.11 stranded deep trainer 0.11](https://mehtrainer.com/wp-content/uploads/2019/12/1.jpg)
No loss of heterozygosity (LOH) in tumor tissue and no allelic imbalance in RNA level were confirmed. The C-terminal stop codon variants showed no association with other pathogenic BRCA2 variants. An increased frequency of pancreatic cancer was found in families where c.9976A>T occurred together with other pathogenic BRCA1 variants. However, lung cancer was more prevalent in families carrying c.9976A>T compared to pathogenic BRCA1/BRCA2 carrier families. No association between c.9976A>T and clinicopathological parameters or elevated risk for HBOC cases was detected. Although the c.10095delinsGAATTATATCT variant was more prevalent among patients compared to control populations, no increased risk for cancer was found. The potential pathogenic role of germline BRCA2 c.9976A>T and c.10095delinsGAATTATATCT was evaluated in hereditary breast and ovarian cancer (HBOC) patients by investigating 2491 probands and verified in an independent cohort of 122,209 patients.