Screening for mutations of theAPC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation

Giarola, Monica; Stagi, L; Presciuttini, Silvano; Mondini, P; Radice, Maria Teresa; Sala, Paola; Pierotti, Marco A.; Bertario, Lucio; Radice, Paolo

doi:10.1002/(sici)1098-1004(1999)13:2<116::aid-humu3>3.0.co;2-2

Cited by 41 publications

(31 citation statements)

References 30 publications

(32 reference statements)

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“…In summary, 83 patients were registered so far, and 59 patients (37+16+6) were mutation-positive, and the mutation detection rate was increased to 71% (59/83) with the use of DHPLC followed by direct sequencing. Our 71% detection rate is consistent with previous reports of detection rates ranging from 52 to 81% (John et al, 1997;Giarola et al, 1999;Hutter et al, 2001). All of the APC germline mutations identified in this study were truncating mutations.…”

Section: Resultssupporting

confidence: 92%

Mutation spectrum of the APC gene in 83 Korean FAP families

Kim

Kang

et al. 2005

Hum. Mutat.

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Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous 1438C>T, c.2232_2233dupCT, c.3426delT, c.3739_3769del31, c.3931_3935delATTGG, c.4332dupA, and c.4722_4725delACTA. Desmoid tumors were identified in 6 of the examined FAP patients, five of whom had APC germline mutations; these mutations involved codons 849, 864, 1309, 1444 and 1464, respectively (c.2547_2548delTA, c.2592_2593insCT, c.3927_3931delAAAGA, c.4332dupA and c.4391-4394delAGAG). Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA).

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Section: Resultssupporting

confidence: 92%

Mutation spectrum of the APC gene in 83 Korean FAP families

Kim

Kang

et al. 2005

Hum. Mutat.

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“…7,8 When a mutation was identified in the family proband, its occurrence was verified in all affected relatives included in the analysis. Subjects tested at the DNA level were subdivided according to the presence and the position of the mutation along the APC gene, following 2 different types of classification, based on previously reported observations.…”

Section: Genetic Testingmentioning

confidence: 99%

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis

Bertario¹,

Russo

Sala³

et al. 2001

Int. J. Cancer

206

163

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“…Constitutional DNA was extracted from peripheral blood lymphocytes using a standard proteinase K and phenol-chloroform protocol as already reported (13).…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…Germ line -truncating mutations were investigated by single-strand conformation polymorphism analysis for DNA sequences corresponding to APC exon 1 to 14 and exon 15 fragments A, E, and G according to the literature (13). APC exon 15 was completely analyzed through the protein truncation test as already reported (13). DNA fragments with an abnormal single-strand conformation polymorphism or protein truncation test pattern were subjected to automated sequencing by ABI Prism 377 (Applied Biosystems, Foster City, CA) and analyzed with Sequencing Analysis and Sequence Navigator software programs by ABI Prism (Applied Biosystems).…”

Section: Methodsmentioning

confidence: 99%

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Cyclooxygenase-2 Expression in FAP Patients Carrying Germ Line MYH Mutations

Frattini

Carnevali

Signoroni

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Familial adenomatous polyposis (FAP) is an autosomal condition caused by inherited mutations in the adenomatous polyposis coli (APC) or in the MYH genes. Clinical trials have established that nonsteroidal anti-inflammatory drugs (NSAID) are effective in preventing the development as well as reducing the size and decreasing the number of adenomas in FAP patients. Our aim was to evaluate the cyclooxygenase-2 (COX-2) expression in surgical specimens from patients with no evidence of germ line APC mutations but carrying germ line MYH mutations. COX-2 expression was evaluated through immunohistochemical and mRNA analysis in carcinomas, adenomas, and healthy mucosa from six patients carrying germ line biallelic MYH mutations.A modulation of COX-2 expression from adenoma (lower level) to carcinoma (higher level) was observed in all patients by both immunohistochemical and mRNA analysis. Moreover, patients with MYH mutations showed a weak COX-2 expression in the whole colorectal mucosa, as for classic FAP patients carrying germ line APC mutations. All together, our data suggest that biallelic MYH patients might benefit from NSAID treatment, because in these patients COX-2 is overexpressed in the whole colorectal mucosa, a finding possibly related to the interplay between COX-2 and APC protein being the APC gene a common target of mutations in MYH patients. (Cancer Epidemiol Biomarkers Prev 2005;14(8):2049 -52)

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Screening for mutations of theAPC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation

Cited by 41 publications

References 30 publications

Mutation spectrum of the APC gene in 83 Korean FAP families

Mutation spectrum of the APC gene in 83 Korean FAP families

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis

Cyclooxygenase-2 Expression in FAP Patients Carrying Germ Line MYH Mutations

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