Division of General Surgery, Department of Surgery, Lehigh Valley Health Network, 1240 S. Cedar Crest Blvd. #405, Allentown, PA, 18103, USA.
Breast Cancer Res Treat. 2011 Sep;129(2):629-34. doi: 10.1007/s10549-011-1597-9. Epub 2011 May 24.
When a family is known to have a BRCA mutation, genetic testing for family members is typically limited to single site analysis of the known mutation. The exception to this is in Ashkenazi Jewish families, where testing for the three common Ashkenazi Jewish BRCA mutations is recommended. We report two cases, one without Ashkenazi Jewish ancestry and one with maternal Ashkenazi Jewish ancestry, who underwent Comprehensive BRACAnalysis testing despite known BRCA1 mutations in family members. Testing identified the BRCA1 mutation previously identified, and a second mutation in BRCA2. These cases raise the question of whether or not Single Site BRACAnalysis for a known familial BRCA mutation is always the appropriate test when testing an affected individual. The implications of missing a second mutation are discussed.
当已知一个家族存在 BRCA 突变时，通常仅限于对已知突变进行单一位点分析的家族成员进行基因检测。这种情况的例外是在阿什肯纳兹犹太家族中，建议对三种常见的阿什肯纳兹犹太 BRCA 突变进行检测。我们报告了两例病例，一例没有阿什肯纳兹犹太血统，一例有母亲的阿什肯纳兹犹太血统，尽管家族成员中存在已知的 BRCA1 突变，但他们仍接受了全面的 BRACAnalysis 检测。检测确定了先前确定的 BRCA1 突变和 BRCA2 中的第二个突变。这些病例提出了一个问题，即在检测受影响个体时，是否始终需要对已知家族性 BRCA 突变进行单一位点 BRACAnalysis。还讨论了错过第二个突变的影响。
