Abstract

Abstract Background: Several independent reports have indicated the efficacy of DNA damaging therapy for the oncological patients with loss of homolog recombination in consequence of BRCA 1,2 or PALB2 germiline mutation. There are similar works about pancreatic cancer but the frequency and localization of defects in these genes and the results of chemotherapy are variable. Methods: From 2009 to 2012 years 257 patients with PAC were included in the study. The analysis of the Russian founder mutation BRCA1 5382insC is performed in 150 PAC: 116 pacients included accidentally and 34 – by the presence of kindred’s with oncology. We had compared our results with the control group of 1007 healthy people. Prevalence of BRCA2 6174delT were analyzed in 22 cases. For these two genes we used allele specific real-time PCR. Full exon sequencing of coding region of BRCA2, PALB2 was conducted on DNA samples extracted from 8 patients by the HRM-analysis. For the administration of chemotherapy (ChT) we estimated a performance status by ECOG scale and efficacy by the RECIST criteria. Results: Two patients had carriers of BRCA1 mutation and one – BRCA2 5197_5198delTC. In the control group only 1/1007 had BRCA1 allele. All patients with founder mutations had 2 or more kindred’s with oncology and 1 had carriers of BRCA1 5382insC. Defects in the PALB 2 were not identified. ChT was administered only for 1 patients with BRCA2 allele because only he had a 1 score for ECOG scale. He had a 4 line of ChT (FOLFIRINOX, cisplatin, chlorambucil, mitomicin) and only in last one there was stabilization of the process by RECIST criteria and decrease the level of CA 19-9 from 3810 to 547 U/ml. FTP was a 4,1 months and overall survival – 8,1. Conclusion: The frequency of BRCA1/2mutation carriers was rare for PAC but higher than in the general population and probability of detection was depended on familial history. It means that samples from patients with PAC whom had 2 or more relatives or kindred carrier of BRCA mutation should be selected for DNA analysis. The DNA crosslink agents are preferable for patients with BRCA mutation. Note: This abstract was not presented at the conference. Citation Format: Alexey Kashintsev, Evgeny Imyanitov, Nikolai Kokhanenko, Aglaya Ievleva. Significance of BRCA mutation for the patients with pancreatic cancer. [abstract]. In: Proceedings of the AACR Special Conference on Pancreatic Cancer: Innovations in Research and Treatment; May 18-21, 2014; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2015;75(13 Suppl):Abstract nr B105.

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call