Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families

Cruz-Bustillo, Diana; Villasana, Luis; Llorente, Francisco Rubio; Casadesús, Damián; Garcia, E.; Syrris, Petros; Carter, Nick; Guerra, Rosa; Llanio, R

doi:10.1007/s00384-001-0385-0

Cited by 5 publications

(3 citation statements)

References 25 publications

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“…1a and b). This known mutation is recurrent and is also frequent in other populations (7,11,16,19,20). The APC protein is an integral part of the wnt-signaling mechanism; it interacts with ß-catenin and regulates its activity.…”

Section: Discussionmentioning

confidence: 99%

First genetic analysis in Tunisian familial adenomatous polyposis probands

Bougatef

Marrakchi²,

Moussa³

et al. 2008

Oncol Rep

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Abstract. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. The APC gene (adenomatous polyposis coli) is considered as the major mutated gene in FAP. It has been shown that biallelic germline mutations in the baseexcision-repair gene MYH can be responsible for a recessive inheritance of adenomatous polyposis (AP). This study is the first Tunisian genetic analysis on AP patients. Multiplex ligation-dependent probe amplification (MLPA) was used to screen the APC gene for large genomic rearrangements. The total APC and MYH exon sequences and exon-intron edges were sequenced in an effort to detect germline mutations, four were explored. Mutations were detected in four patients that fulfil the clinical criteria of AP. Three mutations were found in the APC gene, of which two were novel (c.1636_1639delAGTG and c.2514 G>T) and all gave rise to a truncated APC protein. The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP. Our preliminary study provides a basis for implementation of genetic counselling for AP.

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Section: Discussionmentioning

confidence: 99%

First genetic analysis in Tunisian familial adenomatous polyposis probands

Bougatef

Marrakchi²,

Moussa³

et al. 2008

Oncol Rep

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show abstract

“…Over 600 different germ line mutations in APC have been documented using different techniques [11,31 ]. Subsequently, mutation spectra in FAP kindreds of different countries were established and showed highly variable results (30-800/o), suggesting variation among different ethnic groups [5,6,11,17,19,24,25,29].…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of the APC gene in taiwanese familial adenomatous polyposis

Wei

Tsai-Wu

et al. 2004

J Biomed Sci

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Colorectal cancer has become the third leading cause of death from cancer in Taiwan. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of multiple adenomatous polyps in the colon and rectum. The gene responsible for FAP (APC) was cloned in 1991. Extensive analyses of the mutation spectra in FAP kindreds have been performed in different countries, but the results have been highly variable (30-80%). In this study, we used denaturing high-performance liquid chromatography (DHPLC) followed by automatic sequencing in an effort to establish the mutation spectrum of APC from DNA of peripheral blood cells. Among the 6 FAP probands analyzed, mutations were detected in 3 (50%), 2 of which were novel. The first novel mutation was at codon 2166, with a C to T transition, resulting in a stop codon. The second novel mutation was at codon 1971, with a C to G transversion, resulting in an amino acid change from serine to cysteine. The third mutation involved an A insertion in the sequence of -AAAAAA- at codons 1554-1556, which created a downstream stop codon (codon 1558). This study is the first to report mutation analysis in Taiwanese FAP probands.

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“…Over 600 different germ line mutations in APC have been documented using different techniques [11,31]. Subsequently, mutation spectra in FAP kindreds of different countries were established and showed highly variable results (30-80%), suggesting variation among different ethnic groups [5,6,11,17,19,24,25,29].…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis of the APC Gene in Taiwanese Familial Adenomatous Polyposis

Wei

Tsai-Wu

et al. 2004

J Biomed Sci

View full text Add to dashboard Cite

Colorectal cancer has become the third leading cause of death from cancer in Taiwan. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of multiple adenomatous polyps in the colon and rectum. The gene responsible for FAP (APC) was cloned in 1991. Extensive analyses of the mutation spectra in FAP kindreds have been performed in different countries, but the results have been highly variable (30–80%). In this study, we used denaturing high-performance liquid chromatography (DHPLC) followed by automatic sequencing in an effort to establish the mutation spectrum of APC from DNA of peripheral blood cells. Among the 6 FAP probands analyzed, mutations were detected in 3 (50%), 2 of which were novel. The first novel mutation was at codon 2166, with a C to T transition, resulting in a stop codon. The second novel mutation was at codon 1971, with a C to G transversion, resulting in an amino acid change from serine to cysteine. The third mutation involved an A insertion in the sequence of -AAAAAA- at codons 1554–1556, which created a downstream stop codon (codon 1558). This study is the first to report mutation analysis in Taiwanese FAP probands.

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Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families

Abstract: For the first time in Cuba molecular diagnosis of FAP was performed and the development of colorectal cancer prevented in asymptomatic carriers.

Cited by 5 publications

References 25 publications

First genetic analysis in Tunisian familial adenomatous polyposis probands

First genetic analysis in Tunisian familial adenomatous polyposis probands

Genetic analysis of the APC gene in taiwanese familial adenomatous polyposis

Genetic Analysis of the APC Gene in Taiwanese Familial Adenomatous Polyposis

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