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PMID: 19140568 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Is there any relationship between BRCA1 gene mutation and pancreatic cancer development?

Polskie Archiwum Medycyny Wewnetrznej ·Vol. 118 ·No. 11 ·2008-11-00 ·页码 645-9

Lawniczak M, Gawin A, Białek A, Lubiński J, Starzyńska T

Abstract

Pancreatic cancer belongs to carcinomas associated with poor prognosis and low survival rate. It has been highlighted that the cancer risk is linked to both environmental and genetic factors. Available studies allow to estimate that genetic factors play a role in 5-10% of patients with pancreatic cancer. Beside other carcinomas, pancreatic cancer occurs in hereditary neoplastic syndromes associated with gene mutations, including CDKN2A, CHEK2, BRCA2. It has also been suggested that BRCA1 mutation is involved given the fact that BRCA1 mutation carriers are at increased risk for pancreatic cancer. However, a role of this mutation is not fully understood. The purpose of the study was to assess the relationship between BRCA1 gene mutation and pancreatic cancer in Polish population. 88 pancreatic cancer patients (56 males and 35 females) and 3784 carriers of BRCA1 mutation from 1637 families were enrolled in the study. Almost 65% of pancreatic cancer patients were cigarette smokers. Genotyping for constitutive BRCA1 gene mutation was performed in all patients with pancreatic cancer. ASA-PCR and PCR-RFLP methods were used to detect BRCA1 (5382insC, C61G, 4153delA) mutations. The frequency of pancreatic cancer in families of BRCA1 mutation carriers was evaluated. No carriers of BRCA1 mutation were identified in patients with pancreatic cancer. Only in 11 families (0.7%) with BRCA1 mutation carriers, pancreatic cancer was diagnosed. Our results suggest that there is no relationship between BRCA1 mutation and pancreatic cancer development in Polish population.

MeSH 主题词
Adult Aged Aged, 80 and over Female Genes, BRCA1 Genetic Predisposition to Disease Germ-Line Mutation Humans Male Middle Aged Pancreatic Neoplasms/epidemiology,genetics Poland/epidemiology Polymerase Chain Reaction/methods
作者与单位
共 5 位作者,点击展开单位 / ORCID
Lawniczak Małgorzata
Department of Gastroenterology and Internal Diseases, Pomeranian Medical University, Szczecin, Poland. gosiaml7@wp.pl
Gawin Alicja
Białek Andrzej
Lubiński Jan
Starzyńska Teresa
Article Info
Journal
Polskie Archiwum Medycyny Wewnetrznej
Abbr.
Pol Arch Med Wewn
Corresponding email
Published
2008-11-00
页码
645-9
Language
English
Country/Region
Poland
NLM ID
0401225
External Links
PubMed source
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