Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report.
Rev Fac Cien Med Univ Nac Cordoba
; 79(1): 53-56, 2022 03 07.
Article
em En
| MEDLINE
| ID: mdl-35312250
ABSTRACT
INTRODUCTION:
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article