title: A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.
abstract: Germ-line mutations in the BRCA2 gene are associated with a wide range of cancer types, including the breast, ovary, pancreas, prostate and melanoma. In this study, we evaluated the importance of a family history of stomach cancer in predicting the presence of a BRCA2 mutation in Polish patients with ovarian cancer. A BRCA2 mutation was found in eight of 34 women with ovarian cancer and a family history of stomach cancer versus three of 75 women with ovarian cancer and a family history of ovarian cancer, but not of stomach cancer (odds ratio=7.4; 95% CI 1.8-30; P=0.004). The results of this study suggest that, in the Polish population, the constellation of ovarian and stomach cancer predicts the presence of a germ-line BRCA2 mutation and confirms that stomach cancer is part of the spectrum of BRCA2 mutations. It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors.
authors.affiliation: Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland. aniaj@sci.pam.szczecin.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.forename: Rodney
authors.initials: R
authors.lastname: Scott
authors.forename: Janusz
authors.initials: J
authors.lastname: Menkiszak
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Tomasz
authors.initials: T
authors.lastname: Byrski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Huzarski
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Debniak
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Kowalska
authors.forename: Teresa
authors.initials: T
authors.lastname: Starzyńska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Ławniczak
authors.forename: Steven
authors.initials: S
authors.lastname: Narod
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics*; D011044:Poland