Genetic testing and counseling for hereditary forms of colorectal cancer

Gloria M Petersen, Jill D. Brensinger, Karen A. Johnson, Francis M. Giardiello

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.

Original languageEnglish (US)
Pages (from-to)2540-2550
Number of pages11
JournalCancer
Volume86
Issue number11 SUPPL.
StatePublished - Dec 1 1999
Externally publishedYes

Fingerprint

Genetic Counseling
Genetic Testing
Colorectal Neoplasms
Germ-Line Mutation
Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Genes
Genetic Phenomena
Adenomatous Polyps
Jews
Microsatellite Instability
Adenomatous Polyposis Coli
DNA Mismatch Repair
Genetic Association Studies
Missense Mutation
Patient Education
Pedigree
Colonic Neoplasms
Counseling
Colon

Keywords

  • Colon cancer genetic testing
  • Familial adenomatous polyposis
  • Genetic counseling
  • Hereditary nonpolyposis colorectal cancer

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Petersen, G. M., Brensinger, J. D., Johnson, K. A., & Giardiello, F. M. (1999). Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer, 86(11 SUPPL.), 2540-2550.

Genetic testing and counseling for hereditary forms of colorectal cancer. / Petersen, Gloria M; Brensinger, Jill D.; Johnson, Karen A.; Giardiello, Francis M.

In: Cancer, Vol. 86, No. 11 SUPPL., 01.12.1999, p. 2540-2550.

Research output: Contribution to journalArticle

Petersen, GM, Brensinger, JD, Johnson, KA & Giardiello, FM 1999, 'Genetic testing and counseling for hereditary forms of colorectal cancer', Cancer, vol. 86, no. 11 SUPPL., pp. 2540-2550.
Petersen GM, Brensinger JD, Johnson KA, Giardiello FM. Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer. 1999 Dec 1;86(11 SUPPL.):2540-2550.
Petersen, Gloria M ; Brensinger, Jill D. ; Johnson, Karen A. ; Giardiello, Francis M. / Genetic testing and counseling for hereditary forms of colorectal cancer. In: Cancer. 1999 ; Vol. 86, No. 11 SUPPL. pp. 2540-2550.
@article{aaa5ba7d0f644289a06833aabb30c490,
title = "Genetic testing and counseling for hereditary forms of colorectal cancer",
abstract = "The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.",
keywords = "Colon cancer genetic testing, Familial adenomatous polyposis, Genetic counseling, Hereditary nonpolyposis colorectal cancer",
author = "Petersen, {Gloria M} and Brensinger, {Jill D.} and Johnson, {Karen A.} and Giardiello, {Francis M.}",
year = "1999",
month = "12",
day = "1",
language = "English (US)",
volume = "86",
pages = "2540--2550",
journal = "Cancer",
issn = "0008-543X",
publisher = "John Wiley and Sons Inc.",
number = "11 SUPPL.",

}

TY - JOUR

T1 - Genetic testing and counseling for hereditary forms of colorectal cancer

AU - Petersen, Gloria M

AU - Brensinger, Jill D.

AU - Johnson, Karen A.

AU - Giardiello, Francis M.

PY - 1999/12/1

Y1 - 1999/12/1

N2 - The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.

AB - The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.

KW - Colon cancer genetic testing

KW - Familial adenomatous polyposis

KW - Genetic counseling

KW - Hereditary nonpolyposis colorectal cancer

UR - http://www.scopus.com/inward/record.url?scp=0033429181&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033429181&partnerID=8YFLogxK

M3 - Article

C2 - 10630180

AN - SCOPUS:0033429181

VL - 86

SP - 2540

EP - 2550

JO - Cancer

JF - Cancer

SN - 0008-543X

IS - 11 SUPPL.

ER -