Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
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DOI：
10.1126/science.1088759
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发表时间：
2003-10-24
期刊：
影响因子：
56.9
通讯作者：
Mandell, JB
中科院分区：
文献类型：
--
作者：
King, MC;Marks, JH;Mandell, JB
研究人员确定了具有肿瘤抑制基因 BRCA1 和 BRCA2 遗传突变的德系犹太女性患乳腺癌和卵巢癌的风险。我们选择了 1008 例指示病例，不考虑癌症家族史，并对整个家族进行了分子分析。女性突变携带者终生患乳腺癌的风险为 82%，与多发病例家庭的风险相似。风险似乎随着时间的推移而增加：1940 年之前出生的突变携带者到 50 岁时患乳腺癌的风险为 24%，而 1940 年之后出生的人则为 67%。 BRCA1 突变携带者和 BRCA2 突变携带者终生患卵巢癌的风险分别为 54% 和 23%。青春期的体育锻炼和缺乏肥胖与乳腺癌的发病显着延迟有关。
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.