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Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management.
Cancer. 2004 Jan 01; 100(1):53-64.C

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.

Authors+Show Affiliations

Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178, USA. htlynch@creighton.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

14692024

Citation

Lynch, Henry T., et al. "Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-like Families: Problems in Diagnosis, Surveillance, and Management." Cancer, vol. 100, no. 1, 2004, pp. 53-64.
Lynch HT, Riley BD, Weissman SM, et al. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. Cancer. 2004;100(1):53-64.
Lynch, H. T., Riley, B. D., Weissman, S. M., Coronel, S. M., Kinarsky, Y., Lynch, J. F., Shaw, T. G., Rubinstein, W. S., & Weismann, S. (2004). Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. Cancer, 100(1), 53-64.
Lynch HT, et al. Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) and HNPCC-like Families: Problems in Diagnosis, Surveillance, and Management. Cancer. 2004 Jan 1;100(1):53-64. PubMed PMID: 14692024.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. AU - Lynch,Henry T, AU - Riley,Bronson D, AU - Weissman,Scott M, AU - Coronel,Stephanie M, AU - Kinarsky,Yulia, AU - Lynch,Jane F, AU - Shaw,Trudy G, AU - Rubinstein,Wendy S, AU - Weismann,Scott, PY - 2003/12/24/pubmed PY - 2004/1/21/medline PY - 2003/12/24/entrez SP - 53 EP - 64 JF - Cancer JO - Cancer VL - 100 IS - 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. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/14692024/Hereditary_nonpolyposis_colorectal_carcinoma__HNPCC__and_HNPCC_like_families:_Problems_in_diagnosis_surveillance_and_management_ L2 - https://doi.org/10.1002/cncr.11912 DB - PRIME DP - Unbound Medicine ER -