Analysis of the occurrence of germline mutations BRCA1\2, PALB2, CHEK2, NBN in patients with pancreatic malignancies. Single-center cohort non-randomized retrospective study
- Authors: Moiseenko V.E.1,2, Kardanova I.G.1, Pavlovsky A.V.1, Avanesyan G.R.1, Granov D.A.1,2
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Affiliations:
- Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov
- I.P. Pavlov First St. Petersburg Medical University
- Issue: Vol 41, No 2 (2024)
- Pages: 33-41
- Section: Original studies
- URL: https://ogarev-online.ru/PMJ/article/view/257644
- DOI: https://doi.org/10.17816/pmj41233-41
- ID: 257644
Cite item
Abstract
Objective. To analyze the frequency of carriage of BRCA1\2, PALB2, CHEK2, NBN mutations in patients with malignant neoplasms of pancreas.
Materials and methods. The single-center cohort non-randomized retrospective study is based on the data of 82 patients who were examined and treated in Russian Research Center of Radiology and Surgical Technologies named after academician A.M. Granov from 2020 to 2022. Patients with confirmed ductal adenocarcinoma of pancreas were included into the study group. Screening of mutations in exons 2,10, 18, 19 of BRCA1 gene and exon 11 of BRCA2 gene was performed in these patients. In addition, oncological family histories were studied.
Results. Analysis of medical documentation data showed that 18 (22 %) patients with pancreatic cancer had a hereditary oncological history. In this cohort of patients, 5 (28 %) had relatives with pancreatic cancer, 9 (50 %) had a family history of ovarian cancer, 2 (11 %) female relatives of patients in the study group were diagnosed with breast cancer before the age of 50, also 2 (11 %) patients had a history of more than 2 relatives who suffered from breast cancer and / or prostate cancer. When evaluating the results of revealing the mutations in the entire study group (82 patients), BRCA1 (c.5266dupC) was revealed in 8 patients (9.7 %), PALB-2 (c.1592delT) – in 2 patients (2.4 %), mutations CHEK2, NBN and BRCA2 were not diagnosed in any patient. 5 (6 %) patients who were BRCA1 mutation carriers and one patient with an established PALB2 mutation, according to the analysis of case histories, had no oncological history. None of the patients in the study group was a carrier of the BRCA2, CHEK2 and NBN mutations.
Conclusions. Some patients with pancreatic cancer are carriers of germline mutations. Considering our data on the trend of association between germline mutations and pancreatic cancer, we can make an assumption about the prospect of using this indicator as one of the markers for early detection of pancreatic cancer not only in patients with hereditary risk factors for neoplasia, but also in patients without cancer anamnesis. To obtain the results, further observation of patients in the study group and randomized multicenter studies are required.
Keywords
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##article.viewOnOriginalSite##About the authors
V. E. Moiseenko
Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov; I.P. Pavlov First St. Petersburg Medical University
Email: tmpr@inbox.ru
Candidate of Medical Sciences, Associate Professor of the Department of Radiology and Surgical Technologies of the Faculty of Postgraduate Education, oncologist
Russian Federation, Saint Petersburg; Saint PetersburgI. G. Kardanova
Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov
Email: kizeta@bk.ru
surgeon, oncologist of the department of abdominal oncology and x-ray surgical methods of diagnostics and treatment
Russian Federation, Saint PetersburgA. V. Pavlovsky
Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov
Email: prof_pavlovs@mail.ru
ORCID iD: 0000-0003-3994-1329
MD, PhD, surgeon, oncologist of the department of abdominal oncology and x-ray surgical methods of diagnostics and treatment
Russian Federation, Saint PetersburgG. R. Avanesyan
Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov
Email: avanesyangr@mail.ru
student of the pediatric faculty
Russian Federation, Saint PetersburgD. A. Granov
Russian Research Center for Radiology and Surgical Technologies named after academician A.M. Granov; I.P. Pavlov First St. Petersburg Medical University
Author for correspondence.
Email: dmitriigranov@gmail.com
MD, PhD, Professor, Academician of the Russian Academy of Sciences, Head of the Department of Radiology and Surgical Technologies of the Faculty of Postgraduate Education
Russian Federation, Saint Petersburg; Saint PetersburgReferences
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