Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is the most common hereditary form of colorectal cancer (CRC), accounting for approximately 10% of the total CRC burden. HNPCC lacks premonitory physical stigmata, thereby making the family history crucial for diagnosis. Advances in molecular genetics during the past 2 years have led to the cloning of four HNPCC genes (MHS2, MLH1, PMS1 and PMS2). It is now possible to provide presymptomatic DNA testing followed by genetic counselling for gene carriers. Some studies have shown that adenomas in HNPCC are larger, more villous, and have more high grade dysplasia than sporadic cases, suggesting an accelerated adenoma-carcinoma sequence. Given the early age of onset and proximal predominance of CRC, we initiate colonoscopy at age 20-25 years and we recommend that it be performed every 1-2 years. The wealth of clinical and molecular genetic knowledge currently available to physicians about HNPCC can be used effectively for cancer control.

Original languageEnglish
Pages (from-to)1039-1046
Number of pages8
JournalEuropean Journal of Cancer
Volume31
Issue number7-8
DOIs
StatePublished - 1995

Fingerprint

Colorectal Neoplasms
Differential Diagnosis
Adenoma
Molecular Biology
Christianity
Neoplasm Genes
Genetic Counseling
Colonoscopy
Age of Onset
Organism Cloning
Carcinoma
Physicians
DNA
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology
  • Hematology

Cite this

@article{3a075fac89a743c8b017eea297080b3a,
title = "Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer",
abstract = "Hereditary non-polyposis colorectal cancer (HNPCC) is the most common hereditary form of colorectal cancer (CRC), accounting for approximately 10{\%} of the total CRC burden. HNPCC lacks premonitory physical stigmata, thereby making the family history crucial for diagnosis. Advances in molecular genetics during the past 2 years have led to the cloning of four HNPCC genes (MHS2, MLH1, PMS1 and PMS2). It is now possible to provide presymptomatic DNA testing followed by genetic counselling for gene carriers. Some studies have shown that adenomas in HNPCC are larger, more villous, and have more high grade dysplasia than sporadic cases, suggesting an accelerated adenoma-carcinoma sequence. Given the early age of onset and proximal predominance of CRC, we initiate colonoscopy at age 20-25 years and we recommend that it be performed every 1-2 years. The wealth of clinical and molecular genetic knowledge currently available to physicians about HNPCC can be used effectively for cancer control.",
author = "Lynch, {Henry T.} and T. Smyrk and J. Lynch and Fitzgibbons, {Robert Joseph} and Lanspa, {Stephen J.} and T. McGinn",
year = "1995",
doi = "10.1016/0959-8049(95)00126-4",
language = "English",
volume = "31",
pages = "1039--1046",
journal = "European Journal of Cancer",
issn = "0959-8049",
publisher = "Elsevier Limited",
number = "7-8",

}

TY - JOUR

T1 - Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer

AU - Lynch, Henry T.

AU - Smyrk, T.

AU - Lynch, J.

AU - Fitzgibbons, Robert Joseph

AU - Lanspa, Stephen J.

AU - McGinn, T.

PY - 1995

Y1 - 1995

N2 - Hereditary non-polyposis colorectal cancer (HNPCC) is the most common hereditary form of colorectal cancer (CRC), accounting for approximately 10% of the total CRC burden. HNPCC lacks premonitory physical stigmata, thereby making the family history crucial for diagnosis. Advances in molecular genetics during the past 2 years have led to the cloning of four HNPCC genes (MHS2, MLH1, PMS1 and PMS2). It is now possible to provide presymptomatic DNA testing followed by genetic counselling for gene carriers. Some studies have shown that adenomas in HNPCC are larger, more villous, and have more high grade dysplasia than sporadic cases, suggesting an accelerated adenoma-carcinoma sequence. Given the early age of onset and proximal predominance of CRC, we initiate colonoscopy at age 20-25 years and we recommend that it be performed every 1-2 years. The wealth of clinical and molecular genetic knowledge currently available to physicians about HNPCC can be used effectively for cancer control.

AB - Hereditary non-polyposis colorectal cancer (HNPCC) is the most common hereditary form of colorectal cancer (CRC), accounting for approximately 10% of the total CRC burden. HNPCC lacks premonitory physical stigmata, thereby making the family history crucial for diagnosis. Advances in molecular genetics during the past 2 years have led to the cloning of four HNPCC genes (MHS2, MLH1, PMS1 and PMS2). It is now possible to provide presymptomatic DNA testing followed by genetic counselling for gene carriers. Some studies have shown that adenomas in HNPCC are larger, more villous, and have more high grade dysplasia than sporadic cases, suggesting an accelerated adenoma-carcinoma sequence. Given the early age of onset and proximal predominance of CRC, we initiate colonoscopy at age 20-25 years and we recommend that it be performed every 1-2 years. The wealth of clinical and molecular genetic knowledge currently available to physicians about HNPCC can be used effectively for cancer control.

UR - http://www.scopus.com/inward/record.url?scp=0029092484&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029092484&partnerID=8YFLogxK

U2 - 10.1016/0959-8049(95)00126-4

DO - 10.1016/0959-8049(95)00126-4

M3 - Article

VL - 31

SP - 1039

EP - 1046

JO - European Journal of Cancer

JF - European Journal of Cancer

SN - 0959-8049

IS - 7-8

ER -