Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report.

Background: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor suppressor gene. Individuals with LFS frequently develop multiple primary tumors at a young age, such as soft tissue sarcomas, breast cancer, and brain tumors.

The Unique Spectrum of Germline Mutations in Colombian Patients with Extracolonic Carcinomas.

Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with mutations is -associated polyposis, a form of familial colorectal cancer syndrome.

First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

Background: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness.

A Novel Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis.

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

Background: Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer.