alexa [Molecular and genetic studies for hereditary colon cancer in two patients and their families].


Translational Medicine

Author(s): Aravena T, Passalacqua C, Castillo Taucher S

Abstract Share this page

Abstract BACKGROUND: About 30\% of cases of colon cancer (CC) have a family history of CC, and only 5\% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. AIM: To report the molecular and genetic study in two families with hereditary CC. MATERIAL AND METHODS: Molecular analysis of the adenomatous polyposis coli (APC) gene of familial adenomatous polyposis (FAP), was done in a patient with multiple benign polyps and his children. Molecular analysis was performed for MLH1 gene mutation of hereditary non-polyposis colon cancer (HNPCC) in an asymptomatic patient with family history of multiple cancers and his mother with a confirmed mutation in the MLH1 gene. RESULTS: The patient with FAP had an insertion of 17 base pairs in exon 9 of the APC gene and two of his children had the same mutation. The patient with history of HNPCC did not have the family mutation on MLH1. CONCLUSIONS: In the case of FAP, molecular study was performed in his children since manifestations in carriers of the mutation may begin in childhood. If the second patient would have had the mutation, the study of his children could have been postponed until the age of 18, when the risk for CC is increased. This article was published in Rev Med Chil and referenced in Translational Medicine

Relevant Expert PPTs

Relevant Speaker PPTs

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version