Disruption of the APC gene by t(5;7) translocation in a Turcot family

Cancer Genetics
Nora SahnaneMaria Grazia Tibiletti

Abstract

Turcot syndrome (TS) refers to the combination of colorectal polyps and primary tumours of the central nervous system. TS is a heterogeneous genetic condition due to APC and/or mismatch repair germline mutations. When APC is involved the vast majority of mutations are truncating, but in approximately 20%-30% of patients with familial polyposis no germline mutation can be found. A 30-year-old Caucasian woman with a positive pedigree for TS was referred to our Genetic Counselling Service. She was negative for APC and MUTYH but showed a reciprocal balanced translocation t(5;7)(q22;p15) at chromosome analysis. FISH analysis using specific BAC probes demonstrated that 5q22 breakpoint disrupted the APC gene. Transcript analysis by MLPA and digital PCR revealed that the cytogenetic rearrangement involving the 3' end of the APC gene caused a defective expression of a truncated transcript. This result allowed cytogenetic analysis to be offered to all the other family members and segregation analysis clearly demonstrated that all the carriers were affected, whereas non-carriers did not have the polyposis. A cytogenetic approach permitted the identification of the mutation-causing disease in this family, and the segregation analysis toget...Continue Reading

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Citations

Feb 24, 2016·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Maria Cecilia MengoliGiulio Rossi
Mar 24, 2016·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Qi LiuYang Luo
Dec 3, 2016·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Charmi VijapuraToshio Moritani
May 4, 2021·Frontiers in Genetics·Tímea PóczaAnikó Bozsik

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