The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle

Alessandra Avezzù; Marco Agostini; Salvatore Pucciarelli; Mauro Lise; Emanuele Damiano Urso; Isabella Mammi; Isacco Maretto; Maria Vittoria Enzo; Chiara Pastrello; Mario Lise; Donato Nitti; Alessandra Viel

doi:10.1016/j.canlet.2008.04.004

The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle

Alessandra Avezzù, Marco Agostini, Salvatore Pucciarelli, Mauro Lise, Emanuele Damiano Urso, Isabella Mammi, Isacco Maretto, Maria Vittoria Enzo, Chiara Pastrello, Mario Lise, Donato Nitti, Alessandra Viel

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21 Scopus citations

Abstract

Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR = 1.11 (95% CI = 0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.

Original language	English (US)
Pages (from-to)	308-313
Number of pages	6
Journal	Cancer Letters
Volume	268
Issue number	2
DOIs	https://doi.org/10.1016/j.canlet.2008.04.004
State	Published - Sep 18 2008

Keywords

Colorectal cancer
MYH
Polyposis

ASJC Scopus subject areas

Cancer Research
Molecular Biology
Oncology

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10.1016/j.canlet.2008.04.004

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@article{862f3608fc914aee85a1a9bbfe4ad98f,

title = "The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle",

abstract = "Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR = 1.11 (95% CI = 0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.",

keywords = "Colorectal cancer, MYH, Polyposis",

author = "Alessandra Avezz{\`u} and Marco Agostini and Salvatore Pucciarelli and Mauro Lise and Urso, {Emanuele Damiano} and Isabella Mammi and Isacco Maretto and Enzo, {Maria Vittoria} and Chiara Pastrello and Mario Lise and Donato Nitti and Alessandra Viel",

note = "Funding Information: This study was partially supported by grants from LILT (Lega Italiana per la Lotta Contro i Tumori), the Italian Ministry of Health (Programma speciale ex. art.12) and AIRC (Associazione Italiana per la Ricerca sul Cancro). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",

year = "2008",

month = sep,

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doi = "10.1016/j.canlet.2008.04.004",

language = "English (US)",

volume = "268",

pages = "308--313",

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T1 - The role of MYH gene in genetic predisposition to colorectal cancer

T2 - Another piece of the puzzle

AU - Avezzù, Alessandra

AU - Agostini, Marco

AU - Pucciarelli, Salvatore

AU - Lise, Mauro

AU - Urso, Emanuele Damiano

AU - Mammi, Isabella

AU - Maretto, Isacco

AU - Enzo, Maria Vittoria

AU - Pastrello, Chiara

AU - Lise, Mario

AU - Nitti, Donato

AU - Viel, Alessandra

N1 - Funding Information: This study was partially supported by grants from LILT (Lega Italiana per la Lotta Contro i Tumori), the Italian Ministry of Health (Programma speciale ex. art.12) and AIRC (Associazione Italiana per la Ricerca sul Cancro). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.

PY - 2008/9/18

Y1 - 2008/9/18

N2 - Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR = 1.11 (95% CI = 0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.

AB - Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR = 1.11 (95% CI = 0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.

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KW - Polyposis

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The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle

Abstract

Keywords

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