Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8433458 | Cancer Genetics | 2018 | 4 Pages |
Abstract
Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who had a non-informative result after BRCA1 and BRCA2 testing. After extending the study through multigene panel testing, two clinically relevant variants in the TP53 and BRIP1 genes, respectively, were found. Afterwards, the patient developed a glioblastoma. Both tumours were consistent with Li-Fraumeni syndrome. Thanks to the possibility of studying different genes related with hereditary breast and ovarian cancer, it was possible to find out the gene variant that caused the early onset cancers in the patient. Furthermore, genetic counselling was provided to the index case and her family.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Cancer Research
Authors
Verónica Castillo-Guardiola, M Desamparados Sarabia-Meseguer, Miguel MarÃn-Vera, Ana Isabel Sánchez-Bermúdez, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo,