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携带BRCA1和BRCA2种系突变的小乳腺癌和/或卵巢癌家族的特征

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

作者信息

Ligtenberg M J, Hogervorst F B, Willems H W, Arts P J, Brink G, Hageman S, Bosgoed E A, Van der Looij E, Rookus M A, Devilee P, Vos E M, Wigbout G, Struycken P M, Menko F H, Rutgers E J, Hoefsloot E H, Mariman E C, Brunner H G, Van 't Veer L J

机构信息

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

出版信息

Br J Cancer. 1999 Mar;79(9-10):1475-8. doi: 10.1038/sj.bjc.6690235.

DOI:10.1038/sj.bjc.6690235
PMID:10188893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2362698/
Abstract

For families with a small number of cases of breast and/or ovarian cancer, limited data are available to predict the likelihood of genetic predisposition due to mutations in BRCA1 or BRCA2. In 104 families with three or more affected individuals (average 3.8) seeking counselling at family cancer clinics, mutation analysis was performed in the open reading frame of BRCA1 and BRCA2 by the protein truncation test and mutation-specific assays. In 31 of the 104 families tested, mutations were detected (30%). The majority of these mutations (25) occurred in BRCA1. Mutations were detected in 15 out of 25 families (60%) with both breast and ovarian cancer and in 16 out of 79 families (20%) with exclusively cases of breast cancer. Thus, an ovarian cancer case strongly predicted finding a mutation (P < 0.001). Within the group of small breast-cancer-only families, a bilateral breast cancer case or a unilateral breast cancer case diagnosed before age 40 independently predicted finding a BRCA1 or BRCA2 mutation (P = 0.005 and P = 0.02, respectively). Therefore, even small breast/ovarian cancer families with at least one case of ovarian cancer, bilateral breast cancer, or a case of breast cancer diagnosed before age 40, should be referred for mutation screening.

摘要

对于乳腺癌和/或卵巢癌病例数较少的家庭，可用于预测因BRCA1或BRCA2基因突变导致遗传易感性可能性的数据有限。在104个有三名或更多受影响个体（平均3.8人）且在家庭癌症诊所寻求咨询的家庭中，通过蛋白质截短试验和突变特异性检测方法对BRCA1和BRCA2的开放阅读框进行了突变分析。在接受检测的104个家庭中，有31个家庭检测到突变（30%）。这些突变中的大多数（25个）发生在BRCA1中。在25个同时患有乳腺癌和卵巢癌的家庭中有15个（60%）检测到突变，在79个仅患有乳腺癌的家庭中有16个（20%）检测到突变。因此，卵巢癌病例强烈预示会发现突变（P<0.001）。在仅患有小乳腺癌的家庭组中，双侧乳腺癌病例或40岁之前诊断的单侧乳腺癌病例分别独立预示会发现BRCA1或BRCA2突变（P分别为0.005和0.02）。因此，即使是至少有一例卵巢癌、双侧乳腺癌或40岁之前诊断的乳腺癌病例的小乳腺癌/卵巢癌家庭，也应转诊进行突变筛查。