A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer

被引：30

作者：

Jakubowska, A

Scott, R

Menkiszak, J

Gronwald, J

Byrski, T

Huzarski, T

Górski, B

Cybulski, C

Debniak, T

Kowalska, B

Starzynska, T

Lawniczak, M

Narod, S

Lubinski, J

机构：

[1] Pomeranian Acad Med, Dept Genet & Pathol, PL-70115 Szczecin, Poland

[2] Univ Newcastle, Discipline Med Genet, Newcastle, NSW 2308, Australia

[3] Pomeranian Acad Med, Dept Surg Gynecol & Gynecol Oncol Adults & Adoles, PL-70115 Szczecin, Poland

[4] Pomeranian Acad Med, Dept Gastroenterol, PL-70115 Szczecin, Poland

[5] Ctr Res Womens Hlth, Toronto, ON, Canada

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 12期

关键词：

BRCA2; gene; mutation; stomach cancer; ovarian cancer;

D O I：

10.1038/sj.ejhg.5201064

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：955 / 958

页数：4

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