一名早发性乳腺癌患者出现“新发”BRCA1基因突变的新病例。
A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.
作者信息
Antonucci Ivana, Provenzano Martina, Sorino Luca, Rodrigues Melissa, Palka Giandomenico, Stuppia Liborio
机构信息
Laboratory of Molecular Genetics Department of Psychological, Health and Territorial Sciences (DISPUTer) School of Medicine and Health Sciences"G. d'Annunzio" University Chieti-Pescara Italy; CESI-Met Research Center"G. d'Annunzio" University Chieti Italy.
Laboratory of Molecular Genetics Department of Psychological, Health and Territorial Sciences (DISPUTer) School of Medicine and Health Sciences "G. d'Annunzio" University Chieti-Pescara Italy.
出版信息
Clin Case Rep. 2017 Jan 28;5(3):238-240. doi: 10.1002/ccr3.718. eCollection 2017 Mar.
Most of the de novo BRCA1/2 mutations have been identified in patients with early-onset breast cancer and without family history of the disease. The identification of these alterations could play a prominent role in the prevention and treatment strategies and may influence clinical management of patients.
大多数新发BRCA1/2突变是在早发性乳腺癌且无该病家族史的患者中发现的。这些改变的识别可能在预防和治疗策略中发挥重要作用，并可能影响患者的临床管理。
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