Møller Pål, Mæhle Lovise, Engebretsen Lars F, Ludvigsen Trond, Jonsrud Christoffer, Apold Jaran, Vabø Anita, Clark Neal
Section of Cancer Genetics, The Norwegian Radium Hospital, Oslo University Hospital, N-0310 Oslo, Norway.
Hered Cancer Clin Pract. 2010 Jan 19;8(1):2. doi: 10.1186/1897-4287-8-2.
Penetrances of BRCA1 and BRCA2 mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.We have followed women at risk for breast and/or ovarian cancer for two decades, and report the prospectively observed age-related annual incidence rates to contract breast or ovarian cancer for women with deleterious BRCA1 or BRCA2 mutations based on 4830 observation years. Patients were grouped according to mutation, age and having/not having had previous cancer.In women not having had previous cancer and aged 40-59 years, the annual incidence rate to contract breast or ovarian cancer in those having the most frequent BRCA1 founder mutations was 4.0%, for women in this age group and with less frequent BRCA1 mutations annual incidence rate was 5.9%, and for women with BRCA2 mutations 3.5%.The observed figures may be used for genetic counseling of healthy mutation carriers in the respective age groups. The results may indicate that less frequent BRCA1 mutations have higher penetrances than BRCA1 founder mutations.
BRCA1和BRCA2突变的外显率来自回顾性研究，这意味着存在确定偏倚影响结果的可能性。我们对有患乳腺癌和/或卵巢癌风险的女性进行了二十年的随访，并根据4830个观察年报告了携带有害BRCA1或BRCA2突变的女性患乳腺癌或卵巢癌的前瞻性观察到的年龄相关年发病率。患者根据突变、年龄以及是否曾患癌症进行分组。在未曾患过癌症且年龄在40 - 59岁的女性中，携带最常见BRCA1始祖突变的女性患乳腺癌或卵巢癌的年发病率为4.0%，该年龄组中携带较不常见BRCA1突变的女性年发病率为5.9%，携带BRCA2突变的女性年发病率为3.5%。观察到的数据可用于各年龄组健康突变携带者的遗传咨询。结果可能表明，较不常见的BRCA1突变比BRCA1始祖突变具有更高的外显率。
