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Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations
- Source :
- Cancer Letters. 274:266-270
- Publication Year :
- 2009
- Publisher :
- Elsevier BV, 2009.
-
Abstract
- MUTYH-associated polyposis (MAP) is an autosomal recessive condition predisposing to colorectal cancer, caused by constitutional biallelic mutations in the base excision repair (BER) gene MUTYH. Colorectal tumours from MAP patients display an excess of somatic G>T mutations in the APC and KRAS genes due to defective BER function. To date, few extracolonic manifestations have been observed in MAP patients, and the clinical spectrum of this condition is not yet fully established. Recently, one patient with a diagnosis of endometrial cancer and biallelic MUTYH mutations has been described. We here report on two additional unrelated MAP patients with biallelic MUTYH germline mutations who developed endometrioid endometrial carcinoma. The endometrial tumours were evaluated for PTEN, PIK3CA, KRAS, BRAF and CTNNB1 mutations. A G>T transversion at codon 12 of the KRAS gene was observed in one tumour. A single 1bp frameshift deletion of PTEN was observed in the same sample. Overall, these findings suggest that endometrial carcinoma is a phenotypic manifestations of MAP and that inefficient repair of oxidative damage can be involved in its pathogenesis.
- Subjects :
- Oncology
Cancer Research
medicine.medical_specialty
CARCINOMA
MYH-ASSOCIATED POLYPOSIS
REPAIR PROTEIN EXPRESSION
PIK3CA GENE-MUTATIONS
KI-RAS ONCOGENE
ADENOMATOUS POLYPOSIS
COLORECTAL ADENOMAS
MELTING ANALYSIS
BRAF
ACTIVATION
Settore MED/03 - GENETICA MEDICA
medicine.disease_cause
DNA Glycosylases
Frameshift mutation
Germline mutation
MUTYH
Internal medicine
medicine
Humans
PTEN
Transversion
Alleles
biology
Endometrial cancer
Middle Aged
medicine.disease
Lynch syndrome
Endometrial Neoplasms
Genes, ras
Mutation
biology.protein
Cancer research
Female
KRAS
Subjects
Details
- ISSN :
- 03043835
- Volume :
- 274
- Database :
- OpenAIRE
- Journal :
- Cancer Letters
- Accession number :
- edsair.doi.dedup.....9add2b19309a8a65b67de310fbbca397