European journal of human genetics : EJHG · 2003
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.
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Jakubowska Anna, Scott Rodney, Menkiszak Janusz, Gronwald Jacek, Byrski Tomasz, Huzarski Tomasz, Górski Bohdan, Cybulski Cezary, Debniak Tadeusz, Kowalska Elzbieta, Starzyńska Teresa, Ławniczak Małgorzata, Narod Steven, Lubinski Jan
Аннотация
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.