鉴定一位早发性双侧乳腺癌女性的 BRCA1 基因突变。
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.
机构信息
Wessex Clinical Genetics Service, Princess Anne Hospital, Level G, Southampton, Hampshire SO16 5YA, UK.
出版信息
Fam Cancer. 2009;8(4):479-82. doi: 10.1007/s10689-009-9270-8. Epub 2009 Jul 21.
PMID:19629752
Abstract
De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.
摘要
胚系突变在 BRCA1 和 BRCA2 中很少报道。我们报告了一例经证实的 BRCA1 胚系突变病例，该患者为年轻起病的双侧乳腺癌，家族史有限。
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