Inherited multitumoral syndromes including colorectal carcinoma

Cetta, Francesco; Dhamo, A.

doi:10.1016/j.suronc.2007.10.013

Cited by 22 publications

(23 citation statements)

References 26 publications

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“…Most of the mutations (germline or somatic) in APC gene occur in exon 15 comprises more than 75% of coding sequence [3,4,[42][43][44]. The most common germline mutations occur at codons 1061 and 1309 (5bp deletions) and account for 17% and 11% germline APC mutations, respectively.…”

Section: Discussionmentioning

confidence: 99%

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Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer

Zhunussova¹

2014

J Carcinog Mutagen

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Section: Discussionmentioning

confidence: 99%

“…APC 4479 G>A polymorphism (p.Thr1493Thr, rs41115) is found in a variety of tumors, especially in FAP families [44][45][46][47]. In coding region of APC, at the position 4479 substitution G>A is a neutral polymorphism and is known as silent polymorphism.…”

Section: Discussionmentioning

confidence: 99%

Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer

Zhunussova¹

2014

J Carcinog Mutagen

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“…Although most ECMs have little clinical significance, some lesions can cause serious complications and even lead to death (2,3). In FAP, as is typical with hereditary cancer syndromes, there is a high risk of malignancies, including thyroid cancer, hepatoblastoma, medulloblastoma, and pancreatic carcinoma (2).…”

Section: Discussionmentioning

confidence: 99%

“…FAP is caused by germline mutations of the adenomatous polyposis coli (APC), which has been defined as a tumor suppressor gene and is basic for the Wnt signaling pathway (1,2). Therefore, up-regulation of Wnt pathways, due to APC gene mutations in all cells, is not only responsible for the development of colorectal adenomas and subsequent malignant transformation, but also determines the occurrence of benign and malignant tumors in other sites (2). Indeed, an association of FAP with extracolonic manifestations (ECMs) has been described extensively (2,3).…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, up-regulation of Wnt pathways, due to APC gene mutations in all cells, is not only responsible for the development of colorectal adenomas and subsequent malignant transformation, but also determines the occurrence of benign and malignant tumors in other sites (2). Indeed, an association of FAP with extracolonic manifestations (ECMs) has been described extensively (2,3). FAP can be combined with soft tissue tumors.…”

Section: Introductionmentioning

confidence: 99%

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Familial adenomatous polyposis associated with gastrointestinal stromal tumor: Report of a case

Başsorgun

Özbudak²,

Erdoğan³

et al. 2012

Turk J Gastroenterol

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APC gene mutations causing familial adenomatous polyposis in Polish patients

Pławski

Słomski

2008

J Appl Genet

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Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5' end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients.

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Inherited multitumoral syndromes including colorectal carcinoma

Cited by 22 publications

References 26 publications

Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer

Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer

Familial adenomatous polyposis associated with gastrointestinal stromal tumor: Report of a case

APC gene mutations causing familial adenomatous polyposis in Polish patients

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