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
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland.
Eur J Hum Genet. 2003 Dec;11(12):955-8. doi: 10.1038/sj.ejhg.5201064.
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.
BRCA2基因的种系突变与多种癌症类型相关，包括乳腺癌、卵巢癌、胰腺癌、前列腺癌和黑色素瘤。在本研究中，我们评估了胃癌家族史在预测波兰卵巢癌患者中BRCA2突变存在情况时的重要性。在34名有胃癌家族史的卵巢癌女性中，有8人发现BRCA2突变；而在75名有卵巢癌家族史但无胃癌家族史的卵巢癌女性中，只有3人发现BRCA2突变（优势比=7.4；95%可信区间1.8 - 30；P = 0.004）。本研究结果表明，在波兰人群中，卵巢癌和胃癌的组合可预测种系BRCA2突变的存在，并证实胃癌是BRCA2突变谱的一部分。预计BRCA2突变对胃癌的外显率会因国家而异，这反映了当地的环境和生活方式因素。
