由于BRCA1和BRCA2基因的遗传性突变导致的乳腺癌和卵巢癌风险。

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.

作者信息

King Mary-Claire, Marks Joan H, Mandell Jessica B

机构信息

Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA.

出版信息

Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759.

DOI:10.1126/science.1088759

PMID:14576434

Abstract

Risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2. We selected 1008 index cases, regardless of family history of cancer, and carried out molecular analysis across entire families. The lifetime risk of breast cancer among female mutation carriers was 82%, similar to risks in families with many cases. Risks appear to be increasing with time: Breast cancer risk by age 50 among mutation carriers born before 1940 was 24%, but among those born after 1940 it was 67%. Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset.

摘要

对携带肿瘤抑制基因BRCA1和BRCA2遗传突变的阿什肯纳兹犹太女性的乳腺癌和卵巢癌风险进行了测定。我们选取了1008例索引病例，无论其癌症家族史如何，并对整个家族进行了分子分析。女性突变携带者患乳腺癌的终生风险为82%，与有许多病例的家族中的风险相似。风险似乎随时间增加：1940年以前出生的突变携带者在50岁时患乳腺癌的风险为24%，但1940年以后出生的突变携带者这一风险为67%。BRCA1突变携带者患卵巢癌的终生风险为54%，BRCA2突变携带者为23%。青春期进行体育锻炼且不肥胖与乳腺癌发病显著延迟有关。