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Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

World Journal of Gastroenterology 2006年第48期12卷 7848-7851页

作者： Tanya Kirilova Kadiyska Radka Petrova Kaneva Dimitar Georgiev Nedin alexandrina borisova alexandrova Antonina Todorova Gegova Stoyan Ganchev Lalchev Tatyana Christova Vanio Ivanov Mitev Juergen Horst Nadja Bogdanova Ivo Marinov Kremensky Laboratory of Molecular Pathology University Hospital of Obstetrics and Gynecology Bulgaria Clinic of Abdominal Surgery Queen Giovanna Hospital Bulgaria Department of Pathology Queen Giovanna Hospital Bulgaria Department of Medical Genetics Medical University Bulgaria Department of Chemistry and Biochemistry Medical University Bulgaria Institute of Human Genetics University of Munster Germany

AIM： To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer （HNPCC） family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylactic strategy for all mutation carriers.METHODS： The pedigree of the family consists of 42 members in four generations. Search for mutations in the MLH1 and hMSH2 genes was performed in the proband. After PCR amplification of all exons including flanking intronic regions, amplicons were directly sequenced.RESULTS： The mutation was found in nine from the thirteen pedigree members who signed informed consent to participate in the study. In three adenocarcinomas, microsatellite instability and lack of the MLH1 protein expression were detected. The only one tubulovillous adenoma analyzed was microsatellite stable and the MLH1 protein showed an intact staining.CONCLUSION： The newly described mutation c.31delC is HNPCC causative. Besides the typical clinical features of the syndrome, we found a specific pathologic manifestation such as moderate to high differentiated adenocarcinomas of the colon. One of the mutation carriers developed a benign giant cell soft tissue tumor, The primary tumor Iocalizatlons were frequently extracolonic and detailed yearly gastrointestinal and gynecological examinations have been proposed to the mutation carriers. We emphasize the importance of including the HNPCC genetic counseling and testing as well in the following surveillance of all patients at risk in the services covered by the health insurance in Bulgaria.

关键词： Colon cancer Hereditary non-polyposiscolorectal cancer MLH1 Microsatellite instability

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