一名年轻乳腺癌患者的新发从头突变：病例报告
A New de novo Mutation in a Young Breast Cancer Patient: A Case Report.
作者信息
Scherz Amina, Stoll Susanna, Rothlisberger Benno, Rabaglio Manuela
机构信息
Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Department of Medical Oncology, University Hospital and Stadtspital Triemli, Zurich, Switzerland.
出版信息
Appl Clin Genet. 2023 May 11;16:83-87. doi: 10.2147/TACG.S405120. eCollection 2023.
BACKGROUND
and genes represent the most investigated breast and ovarian cancer predisposition genes. Ten cases of pathogenic de novo variations and six cases of pathogenic de novo variation have been reported at present. Here, we report a new case of a de novo gene mutation.
CASE PRESENTATION
A 30-year-old woman with no health issues and no family history for hereditary breast and ovarian cancer was diagnosed with a hormone receptor positive/HER2 negative invasive breast cancer. Genetic testing revealed a pathogenic variant in (c.4065_4068delTCAA) which was not found in her parents or sister.
CONCLUSION
We report a new case of de novo mutation, confirmed by repeated germline testing of the index patient and her parents. The published de novo mutation rate is low. This is probably due - in part - to the strict testing criteria.
背景
BRCA1和BRCA2基因是研究最多的乳腺癌和卵巢癌易感基因。目前已报道了10例致病性新发BRCA1变异病例和6例致病性新发BRCA2变异病例。在此，我们报告1例新的BRCA2基因新发突变病例。
病例介绍
一名30岁女性，无健康问题，无遗传性乳腺癌和卵巢癌家族史，被诊断为激素受体阳性/人表皮生长因子受体2阴性浸润性乳腺癌。基因检测发现BRCA2基因存在一个致病性变异（c.4065_4068delTCAA），其父母和姐姐均未检测到该变异。
结论
我们报告了1例新的BRCA2基因新发突变病例，通过对先证者及其父母进行反复的种系检测得以证实。已发表的BRCA2基因新发突变率较低。这可能部分归因于严格的检测标准。
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