ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminar...

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Published in	The American journal of gastroenterology Vol. 110; no. 2; pp. 223 - 262
Main Authors	Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W
Format	Journal Article
Language	English
Published	United States Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins 01.02.2015
Subjects	Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics Adenomatous Polyposis Coli - therapy Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - therapy Disease Management Gastroenterology Gastrointestinal Neoplasms - diagnosis Gastrointestinal Neoplasms - genetics Gastrointestinal Neoplasms - therapy Genetic Testing - standards Hamartoma Syndrome, Multiple - diagnosis Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - therapy Humans Intestinal Polyposis - congenital Intestinal Polyposis - diagnosis Intestinal Polyposis - genetics Intestinal Polyposis - therapy Neoplastic Syndromes, Hereditary - diagnosis Neoplastic Syndromes, Hereditary - genetics Neoplastic Syndromes, Hereditary - therapy Peutz-Jeghers Syndrome - diagnosis Peutz-Jeghers Syndrome - genetics Peutz-Jeghers Syndrome - therapy
Online Access	Get full text
ISSN	0002-9270 1572-0241 1572-0241
DOI	10.1038/ajg.2014.435

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Abstract	This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
AbstractList	This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH -associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
Author	Church, James M Syngal, Sapna Giardiello, Francis M Burt, Randall W Brand, Randall E Hampel, Heather L
AuthorAffiliation	1 Brigham and Women's Hospital, Boston, Massachusetts, USA 5 Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA 6 Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic Foundation, Cleveland, Ohio, USA 3 Harvard Medical School, Boston, Massachusetts, USA 7 Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA 2 Dana Farber Cancer Institute, Boston, Massachusetts, USA 8 Johns Hopkins University School of Medicine, Baltimore, Maryland, USA 4 Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA 9 Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA 10 Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA
AuthorAffiliation_xml	– name: 8 Johns Hopkins University School of Medicine, Baltimore, Maryland, USA – name: 10 Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA – name: 1 Brigham and Women's Hospital, Boston, Massachusetts, USA – name: 4 Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA – name: 7 Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA – name: 2 Dana Farber Cancer Institute, Boston, Massachusetts, USA – name: 6 Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic Foundation, Cleveland, Ohio, USA – name: 5 Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA – name: 9 Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA – name: 3 Harvard Medical School, Boston, Massachusetts, USA
Author_xml	– sequence: 1 givenname: Sapna surname: Syngal fullname: Syngal, Sapna – sequence: 2 givenname: Randall E surname: Brand fullname: Brand, Randall E – sequence: 3 givenname: James M surname: Church fullname: Church, James M – sequence: 4 givenname: Francis M surname: Giardiello fullname: Giardiello, Francis M – sequence: 5 givenname: Heather L surname: Hampel fullname: Hampel, Heather L – sequence: 6 givenname: Randall W surname: Burt fullname: Burt, Randall W
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/25645574$$D View this record in MEDLINE/PubMed
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Snippet	This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the...
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SubjectTerms	Adenomatous Polyposis Coli - diagnosis Adenomatous Polyposis Coli - genetics Adenomatous Polyposis Coli - therapy Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - therapy Disease Management Gastroenterology Gastrointestinal Neoplasms - diagnosis Gastrointestinal Neoplasms - genetics Gastrointestinal Neoplasms - therapy Genetic Testing - standards Hamartoma Syndrome, Multiple - diagnosis Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - therapy Humans Intestinal Polyposis - congenital Intestinal Polyposis - diagnosis Intestinal Polyposis - genetics Intestinal Polyposis - therapy Neoplastic Syndromes, Hereditary - diagnosis Neoplastic Syndromes, Hereditary - genetics Neoplastic Syndromes, Hereditary - therapy Peutz-Jeghers Syndrome - diagnosis Peutz-Jeghers Syndrome - genetics Peutz-Jeghers Syndrome - therapy
Title	ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
URI	https://www.ncbi.nlm.nih.gov/pubmed/25645574 https://www.proquest.com/docview/1783561104 https://www.proquest.com/docview/1652449866 https://www.proquest.com/docview/1768585567 https://pubmed.ncbi.nlm.nih.gov/PMC4695986
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