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The management of families affected by hereditary non-polyposis colorectal cancer (HNPCC)

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Abstract

This study assessed current practice and methods for improvement in the management of families with hereditary non-polyposis colorectal cancer (HNPCC). HNPCC families registered at five London Genetics Centres and a specialised Colorectal family cancer clinic (CFCC) were identified. Ascertainment of management and outcome details were obtained by scrutiny of patient records and by correspondence with General practitioners (GPs). Two hundred and three families with HNPCC were identified. 79.5% (403/507) of at-risk relatives ascertained were contacted by the genetics centres, and 80.2% (65/81) by the CFCC (P = 1.0). 54.8% (211/385) of probands and relatives within genetics centres’ catchment areas were advised to undertake a surveillance programme, compared with 82.1% (64/78) of those cared for by the CFCC (P < 4.2 × 10−6). Adherence to surveillance guidelines was 76.6% (49/64) in individuals cared for by the only centre that undertook responsibility for surveillance follow-up (CFCC) and 41.7% (88/211) for the genetics centres, which did not assume responsibility (P < 8.9 × 10−7) (using two sided P-values for P (O ≥ E|O ≤ E)). 15.3% of GPs were unaware their patient had been recommended a surveillance programme, 65% did not know who was responsible for ensuring surveillance follow-up. A questionnaire to fifteen UK genetics centres demonstrated that the majority (86.7%) did not assume responsibility for surveillance follow-up. Since surveillance adherence is clearly better where centres assume responsibility for follow-up, it is recommended that regional or national registers of HNPCC families be developed and maintained to ensure effective management.

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Abbreviations

CFCC:

Colorectal family cancer clinic

CRC:

Colorectal cancer

EC:

Endometrial cancer

GP:

General practitioner

HNPCC:

Hereditary non-polyposis colorectal cancer

MMR:

Mismatch repair

PPV:

Positive predictive value

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Acknowledgements

Our thanks go to all staff at the CR-UK Family Cancer Clinic, the Cancer Genetics Clinic, Royal Marsden NHS Foundation Trust, the North East Thames Regional Genetics Centre, the North West Thames Regional Genetics Service, the South East Thames Regional Genetics Centre and the South West Thames Regional Genetics Service for providing access to data to make this work possible. Our thanks also go to Fiona Lewis for her attention to detail during the manuscript revisions. We are grateful to the NHS: Audit, Information & Analysis Unit for funding the audit on which this paper is based.

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Authors and Affiliations

  1. Department of Medical Genetics, St George’s University of London, Cranmer Terrace, London, SW17 0RE, UK

    Johanne Geary, Julian Barwell & Shirley V. Hodgson

  2. CR-UK Family Cancer Clinic, St Mark’s Hospital, Harrow, Middlesex, HA1 3UJ, UK

    Huw J. W. Thomas

  3. Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK

    James Mackay

  4. North West Thames Regional Genetics Service, Kennedy Galton Centre Level 8V, Northwick Park & St Marks NHS Trust, Watford Road, Harrow, Middlesex, HA1 3UJ, UK

    Huw Dorkins

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  1. Johanne Geary
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  2. Huw J. W. Thomas
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  3. James Mackay
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  4. Huw Dorkins
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  5. Julian Barwell
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  6. Shirley V. Hodgson
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Correspondence to Shirley V. Hodgson.

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Geary, J., Thomas, H.J.W., Mackay, J. et al. The management of families affected by hereditary non-polyposis colorectal cancer (HNPCC). Familial Cancer 6, 13–19 (2007). https://doi.org/10.1007/s10689-006-9000-4

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  • DOI: https://doi.org/10.1007/s10689-006-9000-4

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