Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer

An updated review

Henry T. Lynch, Thomas C. Smyrk, Patrice Watson, Stephen J. Lanspa, Jane F. Lynch, Patrick M. Lynch, R. Jennifer Cavalieri, C. Richard Boland

Research output: Contribution to journalReview article

927 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. Warthin's observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern of nonpolyposis colorectal cancer (CRC) and endometrial cancer were described. This condition was first termed the "cancer family syndrome" and was later renamed HNPCC. Some have proposed that HNPCC consists of at least two syndromes: Lynch syndrome I, with hereditary predisposition for CRC having early (~44 years) age of onset, a proclivity (70%) for the proximal colon, and an excess of synchronous and metachronous colonic cancers and Lynch syndrome II, featuring a similar colonic phenotype accompanied by a high risk for carcinoma of the endometrium. Transitional cell carcinoma of the ureter and renal pelvis and carcinomas of the stomach, small bowel, ovary, and pancreas also afflict some families. Current estimates indicate that HNPCC may account for as much as 6% of the total CRC burden. There are no known premonitory phenotypic signs or biomarkers of cancer susceptibility in the Lynch syndromes. This report will summarize current knowledge, with emphasis on the manner in which this knowledge can be employed effectively for diagnosis and management of HNPCC.

Original languageEnglish
Pages (from-to)1535-1549
Number of pages15
JournalGastroenterology
Volume104
Issue number5
StatePublished - 1993

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
Natural History
Pathology
Neoplasms
Colorectal Neoplasms
Endometrial Neoplasms
Lynch Syndrome II
Inheritance Patterns
Kidney Pelvis
Transitional Cell Carcinoma
Ureter
Tumor Biomarkers
Age of Onset
Colonic Neoplasms
Pancreas
Ovary
Stomach
Colon
Carcinoma
Phenotype

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer : An updated review. / Lynch, Henry T.; Smyrk, Thomas C.; Watson, Patrice; Lanspa, Stephen J.; Lynch, Jane F.; Lynch, Patrick M.; Cavalieri, R. Jennifer; Boland, C. Richard.

In: Gastroenterology, Vol. 104, No. 5, 1993, p. 1535-1549.

Research output: Contribution to journalReview article

Lynch, HT, Smyrk, TC, Watson, P, Lanspa, SJ, Lynch, JF, Lynch, PM, Cavalieri, RJ & Boland, CR 1993, 'Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review', Gastroenterology, vol. 104, no. 5, pp. 1535-1549.
Lynch, Henry T. ; Smyrk, Thomas C. ; Watson, Patrice ; Lanspa, Stephen J. ; Lynch, Jane F. ; Lynch, Patrick M. ; Cavalieri, R. Jennifer ; Boland, C. Richard. / Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer : An updated review. In: Gastroenterology. 1993 ; Vol. 104, No. 5. pp. 1535-1549.
@article{a20e6dc11fa248528a3b8eaa54a3386b,
title = "Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review",
abstract = "Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. Warthin's observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern of nonpolyposis colorectal cancer (CRC) and endometrial cancer were described. This condition was first termed the {"}cancer family syndrome{"} and was later renamed HNPCC. Some have proposed that HNPCC consists of at least two syndromes: Lynch syndrome I, with hereditary predisposition for CRC having early (~44 years) age of onset, a proclivity (70{\%}) for the proximal colon, and an excess of synchronous and metachronous colonic cancers and Lynch syndrome II, featuring a similar colonic phenotype accompanied by a high risk for carcinoma of the endometrium. Transitional cell carcinoma of the ureter and renal pelvis and carcinomas of the stomach, small bowel, ovary, and pancreas also afflict some families. Current estimates indicate that HNPCC may account for as much as 6{\%} of the total CRC burden. There are no known premonitory phenotypic signs or biomarkers of cancer susceptibility in the Lynch syndromes. This report will summarize current knowledge, with emphasis on the manner in which this knowledge can be employed effectively for diagnosis and management of HNPCC.",
author = "Lynch, {Henry T.} and Smyrk, {Thomas C.} and Patrice Watson and Lanspa, {Stephen J.} and Lynch, {Jane F.} and Lynch, {Patrick M.} and Cavalieri, {R. Jennifer} and Boland, {C. Richard}",
year = "1993",
language = "English",
volume = "104",
pages = "1535--1549",
journal = "Gastroenterology",
issn = "0016-5085",
publisher = "W.B. Saunders Ltd",
number = "5",

}

TY - JOUR

T1 - Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer

T2 - An updated review

AU - Lynch, Henry T.

AU - Smyrk, Thomas C.

AU - Watson, Patrice

AU - Lanspa, Stephen J.

AU - Lynch, Jane F.

AU - Lynch, Patrick M.

AU - Cavalieri, R. Jennifer

AU - Boland, C. Richard

PY - 1993

Y1 - 1993

N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. Warthin's observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern of nonpolyposis colorectal cancer (CRC) and endometrial cancer were described. This condition was first termed the "cancer family syndrome" and was later renamed HNPCC. Some have proposed that HNPCC consists of at least two syndromes: Lynch syndrome I, with hereditary predisposition for CRC having early (~44 years) age of onset, a proclivity (70%) for the proximal colon, and an excess of synchronous and metachronous colonic cancers and Lynch syndrome II, featuring a similar colonic phenotype accompanied by a high risk for carcinoma of the endometrium. Transitional cell carcinoma of the ureter and renal pelvis and carcinomas of the stomach, small bowel, ovary, and pancreas also afflict some families. Current estimates indicate that HNPCC may account for as much as 6% of the total CRC burden. There are no known premonitory phenotypic signs or biomarkers of cancer susceptibility in the Lynch syndromes. This report will summarize current knowledge, with emphasis on the manner in which this knowledge can be employed effectively for diagnosis and management of HNPCC.

AB - Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. Warthin's observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern of nonpolyposis colorectal cancer (CRC) and endometrial cancer were described. This condition was first termed the "cancer family syndrome" and was later renamed HNPCC. Some have proposed that HNPCC consists of at least two syndromes: Lynch syndrome I, with hereditary predisposition for CRC having early (~44 years) age of onset, a proclivity (70%) for the proximal colon, and an excess of synchronous and metachronous colonic cancers and Lynch syndrome II, featuring a similar colonic phenotype accompanied by a high risk for carcinoma of the endometrium. Transitional cell carcinoma of the ureter and renal pelvis and carcinomas of the stomach, small bowel, ovary, and pancreas also afflict some families. Current estimates indicate that HNPCC may account for as much as 6% of the total CRC burden. There are no known premonitory phenotypic signs or biomarkers of cancer susceptibility in the Lynch syndromes. This report will summarize current knowledge, with emphasis on the manner in which this knowledge can be employed effectively for diagnosis and management of HNPCC.

UR - http://www.scopus.com/inward/record.url?scp=0027248156&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027248156&partnerID=8YFLogxK

M3 - Review article

VL - 104

SP - 1535

EP - 1549

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 5

ER -