Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families

Problems in Diagnosis, Surveillance, and Management

Henry T. Lynch, Bronson D. Riley, Scott Weismann, Stephanie M. Coronel, Yulia Kinarsky, Jane F. Lynch, Trudy G. Shaw, Wendy S. Rubinstein

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

BACKGROUND. To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes to colorectal carcinoma (CRC), accounting for approximately 2-7% of all CRC cases diagnosed in the U.S each year. Its diagnosis is wholly dependent on a meticulously obtained family history of cancer of all anatomic sites, with particular attention to the pattern of cancer distribution within the family. METHODS. The objective of the current study was to illustrate various vexing problems that can deter the diagnosis of HNPCC and, ultimately, its management. This was an observational cohort study. Sixteen HNPCC and HNPCC-like families were selected from a large resource of highly extended HNPCC families. High-risk patients were selected from these HNPCC families. An ascertainment bias was imposed by the lack of a population-based data set. Personal interviews and questionnaires were used for data collection. RESULTS. There was an array of difficulties highlighted by limitations in compliance, lack of a clinical or molecular basis for an HNPCC diagnosis, ambiguous DNA findings, problems in genetic counseling, failure to meet Amsterdam or Bethesda criteria, small families, lack of medical and pathologic documentation, poor cooperation of family members and/or their physicians, cultural barriers, economic stress, frequent patient fear and anxiety, perception of insurance discrimination, and limited patient and/or physician knowledge regarding hereditary cancer. CONCLUSIONS. The diagnosis and management of HNPCC is predicated on physician knowledge of its phenotypic and genotypic heterogeneity, in concert with the multifaceted problems that impact on patient compliance.

Original languageEnglish
Pages (from-to)53-64
Number of pages12
JournalCancer
Volume100
Issue number1
DOIs
StatePublished - Jan 1 2004

Fingerprint

Colorectal Neoplasms
Physicians
Neoplasms
Genetic Counseling
Patient Compliance
Insurance
Documentation
Compliance
Fear
Observational Studies
Cohort Studies
Anxiety
Economics
Interviews
DNA
Population

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Lynch, H. T., Riley, B. D., Weismann, S., Coronel, S. M., Kinarsky, Y., Lynch, J. F., ... Rubinstein, W. S. (2004). Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families: Problems in Diagnosis, Surveillance, and Management. Cancer, 100(1), 53-64. https://doi.org/10.1002/cncr.11912

Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families : Problems in Diagnosis, Surveillance, and Management. / Lynch, Henry T.; Riley, Bronson D.; Weismann, Scott; Coronel, Stephanie M.; Kinarsky, Yulia; Lynch, Jane F.; Shaw, Trudy G.; Rubinstein, Wendy S.

In: Cancer, Vol. 100, No. 1, 01.01.2004, p. 53-64.

Research output: Contribution to journalArticle

Lynch, HT, Riley, BD, Weismann, S, Coronel, SM, Kinarsky, Y, Lynch, JF, Shaw, TG & Rubinstein, WS 2004, 'Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families: Problems in Diagnosis, Surveillance, and Management', Cancer, vol. 100, no. 1, pp. 53-64. https://doi.org/10.1002/cncr.11912
Lynch, Henry T. ; Riley, Bronson D. ; Weismann, Scott ; Coronel, Stephanie M. ; Kinarsky, Yulia ; Lynch, Jane F. ; Shaw, Trudy G. ; Rubinstein, Wendy S. / Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families : Problems in Diagnosis, Surveillance, and Management. In: Cancer. 2004 ; Vol. 100, No. 1. pp. 53-64.
@article{aa326f37c0b6410f884aa99b6a24c278,
title = "Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families: Problems in Diagnosis, Surveillance, and Management",
abstract = "BACKGROUND. To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes to colorectal carcinoma (CRC), accounting for approximately 2-7{\%} of all CRC cases diagnosed in the U.S each year. Its diagnosis is wholly dependent on a meticulously obtained family history of cancer of all anatomic sites, with particular attention to the pattern of cancer distribution within the family. METHODS. The objective of the current study was to illustrate various vexing problems that can deter the diagnosis of HNPCC and, ultimately, its management. This was an observational cohort study. Sixteen HNPCC and HNPCC-like families were selected from a large resource of highly extended HNPCC families. High-risk patients were selected from these HNPCC families. An ascertainment bias was imposed by the lack of a population-based data set. Personal interviews and questionnaires were used for data collection. RESULTS. There was an array of difficulties highlighted by limitations in compliance, lack of a clinical or molecular basis for an HNPCC diagnosis, ambiguous DNA findings, problems in genetic counseling, failure to meet Amsterdam or Bethesda criteria, small families, lack of medical and pathologic documentation, poor cooperation of family members and/or their physicians, cultural barriers, economic stress, frequent patient fear and anxiety, perception of insurance discrimination, and limited patient and/or physician knowledge regarding hereditary cancer. CONCLUSIONS. The diagnosis and management of HNPCC is predicated on physician knowledge of its phenotypic and genotypic heterogeneity, in concert with the multifaceted problems that impact on patient compliance.",
author = "Lynch, {Henry T.} and Riley, {Bronson D.} and Scott Weismann and Coronel, {Stephanie M.} and Yulia Kinarsky and Lynch, {Jane F.} and Shaw, {Trudy G.} and Rubinstein, {Wendy S.}",
year = "2004",
month = "1",
day = "1",
doi = "10.1002/cncr.11912",
language = "English",
volume = "100",
pages = "53--64",
journal = "Cancer",
issn = "0008-543X",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

TY - JOUR

T1 - Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-Like Families

T2 - Problems in Diagnosis, Surveillance, and Management

AU - Lynch, Henry T.

AU - Riley, Bronson D.

AU - Weismann, Scott

AU - Coronel, Stephanie M.

AU - Kinarsky, Yulia

AU - Lynch, Jane F.

AU - Shaw, Trudy G.

AU - Rubinstein, Wendy S.

PY - 2004/1/1

Y1 - 2004/1/1

N2 - BACKGROUND. To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes to colorectal carcinoma (CRC), accounting for approximately 2-7% of all CRC cases diagnosed in the U.S each year. Its diagnosis is wholly dependent on a meticulously obtained family history of cancer of all anatomic sites, with particular attention to the pattern of cancer distribution within the family. METHODS. The objective of the current study was to illustrate various vexing problems that can deter the diagnosis of HNPCC and, ultimately, its management. This was an observational cohort study. Sixteen HNPCC and HNPCC-like families were selected from a large resource of highly extended HNPCC families. High-risk patients were selected from these HNPCC families. An ascertainment bias was imposed by the lack of a population-based data set. Personal interviews and questionnaires were used for data collection. RESULTS. There was an array of difficulties highlighted by limitations in compliance, lack of a clinical or molecular basis for an HNPCC diagnosis, ambiguous DNA findings, problems in genetic counseling, failure to meet Amsterdam or Bethesda criteria, small families, lack of medical and pathologic documentation, poor cooperation of family members and/or their physicians, cultural barriers, economic stress, frequent patient fear and anxiety, perception of insurance discrimination, and limited patient and/or physician knowledge regarding hereditary cancer. CONCLUSIONS. The diagnosis and management of HNPCC is predicated on physician knowledge of its phenotypic and genotypic heterogeneity, in concert with the multifaceted problems that impact on patient compliance.

AB - BACKGROUND. To the authors' knowledge, hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most commonly occurring hereditary disorder that predisposes to colorectal carcinoma (CRC), accounting for approximately 2-7% of all CRC cases diagnosed in the U.S each year. Its diagnosis is wholly dependent on a meticulously obtained family history of cancer of all anatomic sites, with particular attention to the pattern of cancer distribution within the family. METHODS. The objective of the current study was to illustrate various vexing problems that can deter the diagnosis of HNPCC and, ultimately, its management. This was an observational cohort study. Sixteen HNPCC and HNPCC-like families were selected from a large resource of highly extended HNPCC families. High-risk patients were selected from these HNPCC families. An ascertainment bias was imposed by the lack of a population-based data set. Personal interviews and questionnaires were used for data collection. RESULTS. There was an array of difficulties highlighted by limitations in compliance, lack of a clinical or molecular basis for an HNPCC diagnosis, ambiguous DNA findings, problems in genetic counseling, failure to meet Amsterdam or Bethesda criteria, small families, lack of medical and pathologic documentation, poor cooperation of family members and/or their physicians, cultural barriers, economic stress, frequent patient fear and anxiety, perception of insurance discrimination, and limited patient and/or physician knowledge regarding hereditary cancer. CONCLUSIONS. The diagnosis and management of HNPCC is predicated on physician knowledge of its phenotypic and genotypic heterogeneity, in concert with the multifaceted problems that impact on patient compliance.

UR - http://www.scopus.com/inward/record.url?scp=0348108292&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0348108292&partnerID=8YFLogxK

U2 - 10.1002/cncr.11912

DO - 10.1002/cncr.11912

M3 - Article

VL - 100

SP - 53

EP - 64

JO - Cancer

JF - Cancer

SN - 0008-543X

IS - 1

ER -