MUTYH-associated polyposis

Maureen E. Mork; Eduardo Vilar

doi:10.1007/978-3-319-28103-2_2

MUTYH-associated polyposis

Maureen E. Mork, Eduardo Vilar

Clinical Cancer Prevention

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC syndromes, including Lynch syndrome and attenuated familial adenomatous polyposis. This chapter provides a detailed description of MAP, including its clinical characteristics and molecular genetics, as well as implications for affected patients and families including inheritance, genetic testing, surveillance, and preventive recommendations. A proposed algorithm for MUTYH genetic testing is also provided for this important, but rare, hereditary predisposition to CRC.

Original language	English (US)
Title of host publication	Intestinal Polyposis Syndromes
Subtitle of host publication	Diagnosis and Management
Publisher	Springer International Publishing
Pages	25-32
Number of pages	8
ISBN (Electronic)	9783319281032
ISBN (Print)	9783319281018
DOIs	https://doi.org/10.1007/978-3-319-28103-2_2
State	Published - Jan 1 2016

Keywords

Hereditary cancer syndromes
MUTYH
Olorectal cancer
Polyposis

ASJC Scopus subject areas

General Medicine

Access to Document

10.1007/978-3-319-28103-2_2

Cite this

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abstract = "MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC syndromes, including Lynch syndrome and attenuated familial adenomatous polyposis. This chapter provides a detailed description of MAP, including its clinical characteristics and molecular genetics, as well as implications for affected patients and families including inheritance, genetic testing, surveillance, and preventive recommendations. A proposed algorithm for MUTYH genetic testing is also provided for this important, but rare, hereditary predisposition to CRC.",

keywords = "Hereditary cancer syndromes, MUTYH, Olorectal cancer, Polyposis",

author = "Mork, {Maureen E.} and Eduardo Vilar",

note = "Funding Information: The authors would like to thank members of the Mallorca Group for helpful discussions. N. Jones was supported by Cancer Research Wales. Publisher Copyright: {\textcopyright} Springer International Publishing Switzerland 2016.",

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AU - Mork, Maureen E.

AU - Vilar, Eduardo

N1 - Funding Information: The authors would like to thank members of the Mallorca Group for helpful discussions. N. Jones was supported by Cancer Research Wales. Publisher Copyright: © Springer International Publishing Switzerland 2016.

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N2 - MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC syndromes, including Lynch syndrome and attenuated familial adenomatous polyposis. This chapter provides a detailed description of MAP, including its clinical characteristics and molecular genetics, as well as implications for affected patients and families including inheritance, genetic testing, surveillance, and preventive recommendations. A proposed algorithm for MUTYH genetic testing is also provided for this important, but rare, hereditary predisposition to CRC.

AB - MUTYH-associated polyposis (MAP) is an autosomal recessive predisposition to colorectal cancer (CRC) and intestinal polyposis, representing less than 1 % of CRC cases. This condition is characterized by the development of between 10 and 100 colorectal polyps and presents diagnostic challenges due to its phenotypic overlap with other hereditary CRC syndromes, including Lynch syndrome and attenuated familial adenomatous polyposis. This chapter provides a detailed description of MAP, including its clinical characteristics and molecular genetics, as well as implications for affected patients and families including inheritance, genetic testing, surveillance, and preventive recommendations. A proposed algorithm for MUTYH genetic testing is also provided for this important, but rare, hereditary predisposition to CRC.

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KW - Olorectal cancer

KW - Polyposis

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PB - Springer International Publishing

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MUTYH-associated polyposis

Abstract

Keywords

ASJC Scopus subject areas

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