Three novel APC gene mutations in portuguese FAP kindreds

Marshall, Brendan; Isidro, Glória; Carvalhas, Raquel; Veiga, Isabel; Castedo, Sérgio; Soares, José Marques; Boavida, Maria Guida

doi:10.1002/(sici)1098-1004(1996)8:4<395::aid-humu23>3.3.co;2-q

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2000

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“…The extremely heterogeneous mutation spectrum of the APC gene in FAP is also reflected in this study. In spite of the large number of mutations described previously (The Human Gene Mutation Database, Cardiff), three of which were reported by us, (Marshall et al, 1996) our study reveals 11 additional ones, indicating a relatively high frequency of novel mutations in the Portuguese population.…”

Section: Resultscontrasting

confidence: 70%

Eleven novel APC mutations identified in Portuguese FAP families

et al. 2000

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Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families. We here report eleven novel mutations which are predominantly frameshifts or single base substitutions, resulting in premature stop codons. Hum Mutat 16:178, 2000. © 2000 Wiley‐Liss, Inc.

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Section: Resultscontrasting

confidence: 70%