A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report

被引：4

作者：

Scherz, Amina ^{[1
]}

Stoll, Susanna ^{[2
]}

Rothlisberger, Benno ^{[3
]}

Rabaglio, Manuela ^{[1
]}

机构：

[1] Univ Bern, Bern Univ Hosp, Dept Med Oncol, Inselspital, Bern, Switzerland

[2] Univ Hosp & Stadtspital Triemli, Dept Med Oncol, Zurich, Switzerland

[3] GENET AG, Zurich, Switzerland

来源：

APPLICATION OF CLINICAL GENETICS | 2023年 / 16卷

关键词：

BRCA1; gene; breast cancer; de novo mutation; early onset; case report; OVARIAN-CANCER; ONSET BREAST; GENE; WOMAN; IDENTIFICATION;

D O I：

10.2147/TACG.S405120

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: BRCA1 and BRCA2 genes represent the most investigated breast and ovarian cancer predisposition genes. Ten cases of pathogenic de novo BRCA1 variations and six cases of pathogenic de novo BRCA2 variation have been reported at present. Here, we report a new case of a de novo BRCA1 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 BRCA1 (c.4065_4068delTCAA) which was not found in her parents or sister. Conclusion: We report a new case of de novo BRCA1 mutation, confirmed by repeated germline testing of the index patient and her parents. The published BRCA1/2 de novo mutation rate is low. This is probably due - in part - to the strict testing criteria.

引用

页码：83 / 87

页数：5

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