Open AccessDouble heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report
Author(s) -
Enrique Eduardo Sanchez-Castro,
Gonzalo Ziegler-Rodriguez,
María del Carmen Castro-Mujica
Publication year - 2022
Publication title -
revista de la facultad de ciencias médicas de córdoba
Language(s) - English
Resource type - Journals
eISSN - 1853-0605
pISSN - 0014-6722
DOI - 10.31053/1853.0605.v79.n1.32795
Subject(s) - genetics , rad50 , gene , mutation , cancer , biology , dna binding protein , transcription factor
Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
Methods: We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast.
Results: We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM.
Conclusion: In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling.