Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar / Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis
Rev. méd. Chile
;
140(11): 1457-1463, nov. 2012. ilus
Article
in Spanish
| LILACS
| ID: lil-674014
ABSTRACT
Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Germ-Line Mutation
/
Adenomatous Polyposis Coli
/
DNA Glycosylases
Type of study:
Etiology study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2012
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Clínica Las Condes/CL
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