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Case Reports
. 2017 Jan 28;5(3):238-240.
doi: 10.1002/ccr3.718. eCollection 2017 Mar.

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer

Ivana Antonucci  1 , Martina Provenzano  2 , Luca Sorino  2 , Melissa Rodrigues  2 , Giandomenico Palka  3 , Liborio Stuppia  1
Affiliations
Case Reports

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer

Ivana Antonucci et al. Clin Case Rep. .

Abstract

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.

Keywords: BRCA2 gene; breast cancer; de novo mutation; early onset.

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Figures

Figure 1
Figure 1
(A) Pedigree of patient carrying the de novo mutation in BRCA1 gene; (B) electropherogram showing missense mutation.
See this image and copyright information in PMC

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