Home > Medical Research Archives > Issue 149 > GENETIC PREDISPOSITION TO CANCER: REPORT OF THE FIRST CASE IN PERU OF THE 657DEL5 VARIANT IN THE NBN GENE
Published in the Medical Research Archives
Jun 2023 Issue
GENETIC PREDISPOSITION TO CANCER: REPORT OF THE FIRST CASE IN PERU OF THE 657DEL5 VARIANT IN THE NBN GENE
Published on Jun 26, 2023
DOI
Abstract
Background: Breast cancer has well known genetic mutations affecting the DNA-damage repair mechanism and predispose for the development of the disease. The heterozygous pathogenic variants found in the NBN gene has been linked to a higher likelihood of developing cancer;
Methods: clinical description of 3 cases and review of the literature;
Results: We describe a family cluster of 3 sisters affected by different cancer types. One of them had a breast cancer associated to the 657del5 pathogenic variant in the NBN gene and was handled with breast conserving therapy. Another had bilateral breast cancer and the third one had endometrial cancer;
Conclusions: Breast cancer associated with the 657del5 pathogenic variant in the NBN gene has been described in various publications, mainly in populations other than Peru.
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