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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Genet Med. 2014 Jan; 16(1):101-16.GM

Abstract

Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an autosomal dominant manner. Familial adenomatous polyposis is manifested as colonic polyposis caused by mutations in the APC gene and is also inherited in an autosomal dominant manner. Finally, MYH-associated polyposis is caused by mutations in the MUTYH gene and is inherited in an autosomal recessive manner but may or may not be associated with polyps. There are variants of both familial adenomatous polyposis (Gardner syndrome--with extracolonic features--and Turcot syndrome, which features medulloblastoma) and Lynch syndrome (Muir-Torre syndrome features sebaceous skin carcinomas, and Turcot syndrome features glioblastomas). Although a clinical diagnosis of familial adenomatous polyposis can be made using colonoscopy, genetic testing is needed to inform at-risk relatives. Because of the overlapping phenotypes between attenuated familial adenomatous polyposis, MYH-associated polyposis, and Lynch syndrome, genetic testing is needed to distinguish among these conditions. This distinction is important, especially for women with Lynch syndrome, who are at increased risk for gynecological cancers. Clinical testing for these genes has progressed rapidly in the past few years with advances in technologies and the lower cost of reagents, especially for sequencing. To assist clinical laboratories in developing and validating testing for this group of inherited colorectal cancers, the American College of Medical Genetics and Genomics has developed the following technical standards and guidelines. An algorithm for testing is also proposed.

Authors+Show Affiliations

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.Mayo Clinic, Rochester, Minnesota, USA.Mayo Clinic, Salt Lake City, Utah, USA.Mayo Clinic, Salt Lake City, Utah, USA.University of Pennsylvania, Philadelphia, Pennsylvania, USA.No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24310308

Citation

Hegde, Madhuri, et al. "ACMG Technical Standards and Guidelines for Genetic Testing for Inherited Colorectal Cancer (Lynch Syndrome, Familial Adenomatous Polyposis, and MYH-associated Polyposis)." Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 16, no. 1, 2014, pp. 101-16.
Hegde M, Ferber M, Mao R, et al. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014;16(1):101-16.
Hegde, M., Ferber, M., Mao, R., Samowitz, W., & Ganguly, A. (2014). ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genetics in Medicine : Official Journal of the American College of Medical Genetics, 16(1), 101-16. https://doi.org/10.1038/gim.2013.166
Hegde M, et al. ACMG Technical Standards and Guidelines for Genetic Testing for Inherited Colorectal Cancer (Lynch Syndrome, Familial Adenomatous Polyposis, and MYH-associated Polyposis). Genet Med. 2014;16(1):101-16. PubMed PMID: 24310308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). AU - Hegde,Madhuri, AU - Ferber,Mathew, AU - Mao,Rong, AU - Samowitz,Wade, AU - Ganguly,Arupa, AU - ,, Y1 - 2013/12/05/ PY - 2013/09/17/received PY - 2013/09/17/accepted PY - 2013/12/7/entrez PY - 2013/12/7/pubmed PY - 2014/8/5/medline SP - 101 EP - 16 JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet. Med. VL - 16 IS - 1 N2 - Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an autosomal dominant manner. Familial adenomatous polyposis is manifested as colonic polyposis caused by mutations in the APC gene and is also inherited in an autosomal dominant manner. Finally, MYH-associated polyposis is caused by mutations in the MUTYH gene and is inherited in an autosomal recessive manner but may or may not be associated with polyps. There are variants of both familial adenomatous polyposis (Gardner syndrome--with extracolonic features--and Turcot syndrome, which features medulloblastoma) and Lynch syndrome (Muir-Torre syndrome features sebaceous skin carcinomas, and Turcot syndrome features glioblastomas). Although a clinical diagnosis of familial adenomatous polyposis can be made using colonoscopy, genetic testing is needed to inform at-risk relatives. Because of the overlapping phenotypes between attenuated familial adenomatous polyposis, MYH-associated polyposis, and Lynch syndrome, genetic testing is needed to distinguish among these conditions. This distinction is important, especially for women with Lynch syndrome, who are at increased risk for gynecological cancers. Clinical testing for these genes has progressed rapidly in the past few years with advances in technologies and the lower cost of reagents, especially for sequencing. To assist clinical laboratories in developing and validating testing for this group of inherited colorectal cancers, the American College of Medical Genetics and Genomics has developed the following technical standards and guidelines. An algorithm for testing is also proposed. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/24310308/ACMG_technical_standards_and_guidelines_for_genetic_testing_for_inherited_colorectal_cancer__Lynch_syndrome_familial_adenomatous_polyposis_and_MYH_associated_polyposis__ L2 - http://dx.doi.org/10.1038/gim.2013.166 DB - PRIME DP - Unbound Medicine ER -