Prevalence of HNPCC in a Series of Consecutive Patients on the First Endoscopic Diagnosis of Colorectal Cancer: A Multicenter Study

Introduction

Hereditary non-polyposis colorectal cancer (HNPCC) is a neoplastic syndrome transmitted as an autosomal dominant trait, and is also known as “Lynch syndrome” and “cancer family syndrome.” Recently, four genes responsible for HNPCC were isolated in the majority of the families studied (hMSH2, hMLH1, hPMS1, hPMS2) and germline mutations were reported in HNPCC patients [1] [2] [3] [4].

Determinations of the prevalence of HNPCC depend on the criteria used to diagnose it. The statistics appearing in the medical literature consequently vary from a prevalence of 1 % to 5 %, as they are based on different criteria [5] [6] [7] [8] [9] [10] [11] [12] [13]. The Amsterdam criteria established by the International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer [14] have been used in recent years. These describe an HNPCC carrier as a member of a family with at least three cases of colorectal cancer, two of which have affected first-degree relatives in different generations, the other affecting a patient younger than 50.

It is difficult to measure the prevalence of hereditary non-polyposis colorectal cancer (HNPCC) in geographical areas that do not have tumor registers, as is the case in the present study; therefore it was decided to assess the prevalence in Italy using different methods.

References

• 1 Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.  Nature. 1994;  368 258-61
• 2 Fishel R, Lescoe MK, Rao MRS, et al. The human mutator gene homolog MSH2 and its association with hereditary non-polyposis colon cancer.  Cell. 1993;  75 1027-38
• 3 Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutation of a mutS homolog in hereditary non-polyposis colorectal cancer.  Cell. 1993;  75 1215-25
• 4 Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary non-polyposis colon cancer.  Nature. 1994;  371 75-80
• 5 Benatti P, Sassatelli R, Roncucci L, et al. Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with “suspected HNPCC”: a population-based study in Northern Italy.  Int J Cancer. 1993;  54 371-7
• 6 Kee F, Collins BJ. How prevalent is cancer family syndrome?.  Gut. 1991;  32 509-12
• 7 Mecklin JP. Frequency of hereditary colorectal carcinoma.  Gastroenterology. 1987;  93 1021-5
• 8 Mecklin JP, Jarvinen HJ, Hakkiluoto A, et al. Frequency of hereditary non-polyposis colorectal cancer: a prospective multicenter study in Finland.  Dis Colon Rectum. 1995;  38 588-93
• 9 Modica S, Roncucci L, Benatti P, et al. Familial aggregation of tumors and detection of hereditary non-polyposis colorectal cancer in 3-year experience of 2 population-based colorectal cancer registries.  Int J Cancer. 1995;  62 685-90
• 10 Ponz de Leon M, Sassatelli R, Benatti P, et al. Identification of hereditary non-polyposis colorectal cancer in the general population: the 6-year experience of a population-based registry.  Cancer. 1993;  71 3493-501
• 11 Stephenson BM, Finan PJ, Gascoyne J, et al. Frequency of familial colorectal cancer.  Br J Surg. 1991;  78 1162-6
• 12 Westlake PJ, Bryant HE, Hughcroft SA, et al. Frequency of hereditary non-polyposis colorectal cancer in Southern Alberta.  Dig Dis Sci. 1991;  36 1441-7
• 13 Riegler G, Arimoli A, Savastano A, et al. Prevalenza di cancro ereditario del colon non su poliposi (HNPCC) nel Sud Italia (Campania).  Minerva Gastroenterol Dietol. 1997;  43 37-40
• 14 Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC).  Dis Colon Rectum. 1991;  34 424-5
• 15 Riegler G, Carratù R, Tartaglione M, et al. Prevalence and relative risk of malignancy in relatives of inflammatory bowel disease and colon cancer patients.  J Clin Gastroenterol. 1998;  27 211-4
• 16 Lynch HT, Lanspa SJ, Boman BM, et al. Hereditary non-polyposis colorectal cancer: Lynch syndromes I and II.  Gastroenterol Clin North Am. 1988;  17 679-712
• 17 Riegler G, D'Angella R, Arimoli A, et al. Is the detection of multiple adenomas an additional criteria for HNPCC?.  Gut [abstract]. 1997;  41 (Suppl 3) A126