Genetic epidemiology of hereditary non‐polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis

Complex segregation analysis was conducted in a series of patients with hereditary non‐polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigrees. The analysis favoured the two‐loci model, in which the segregation at the major locus is compatible with codominant transmission with a frequency of 0·0044 for the high‐risk allele for HNPCC and a lifetime penetrance of 0·728 for heterozygotes.

[1]  J. Ferlay,et al.  Cancer Incidence in Five Continents , 1970, Union Internationale Contre Le Cancer / International Union against Cancer.

[2]  L. Roncucci,et al.  Identification of hereditary nonpolyposis colorectal cancer in the general population. The 6‐year experience of a population‐based registry , 1993, Cancer.

[3]  L. Roncucci,et al.  Tumour spectrum in hereditary non‐polyposis colorectal cancer (HNPCC) and in families with “suspected hnpcc”. A population‐based study in northern Italy , 1993, International journal of cancer.

[4]  K. Kinzler,et al.  Clues to the pathogenesis of familial colorectal cancer. , 1993, Science.

[5]  J. Weber,et al.  Genetic mapping of a locus predisposing to human colorectal cancer. , 1993, Science.

[6]  I. Barrai,et al.  Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry. , 1992, Journal of medical genetics.

[7]  N. Morton,et al.  Dominant genes for colorectal cancer are not rare , 1992, Annals of human genetics.

[8]  N. Morton,et al.  Genetic epidemiology of complex phenotypes , 1991, Annals of human genetics.

[9]  S. Altschul,et al.  Identification of FAP locus genes from chromosome 5q21. , 1991, Science.

[10]  J. McPherson,et al.  Identification of deletion mutations and three new genes at the familial polyposis locus , 1991, Cell.

[11]  Margaret Robertson,et al.  Identification and characterization of the familial adenomatous polyposis coli gene , 1991, Cell.

[12]  K. Kinzler,et al.  Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. , 1991, Science.

[13]  N. Morton,et al.  Genetic epidemiology of breast cancer in Britain , 1991, Annals of human genetics.

[14]  J. Mecklin,et al.  The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) , 1991, Diseases of the colon and rectum.

[15]  T. Byers,et al.  Dietary epidemiology of cancer of the colon in western New York. , 1988, American journal of epidemiology.

[16]  M. Skolnick,et al.  Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. , 1988, The New England journal of medicine.

[17]  H. Lynch,et al.  Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II) , 1988, Diseases of the colon and rectum.

[18]  T. Smyrk,et al.  Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II) , 1988, Diseases of the colon and rectum.

[19]  Z. Fireman,et al.  Familial colon cancer in the Tel‐Aviv area and the influence of ethnic origin , 1987, Cancer.

[20]  R. Fitzgibbons,et al.  Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). , 1987, Annals of surgery.

[21]  Z. Fireman,et al.  Family history of colorectal cancer as a marker of potential malignancy within a screening program , 1987, Cancer.

[22]  J. Mecklin,et al.  Cancer family syndrome. Genetic analysis of 22 Finnish kindreds. , 1986, Gastroenterology.

[23]  R. Elston,et al.  Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). I. Clinical description of resource , 1985, Cancer.

[24]  Randall G. Lee,et al.  Dominant inheritance of adenomatous colonic polyps and colorectal cancer. , 1985, The New England journal of medicine.

[25]  T. Mack,et al.  Job activity and colon cancer risk. , 1984, American journal of epidemiology.

[26]  Eileen Lovett,et al.  Family studies in cancer of the colon and rectum , 1976, The British journal of surgery.

[27]  N. Morton,et al.  Prediction of genetic risks from segregation analyses of morbid risks. , 1994, Human heredity.

[28]  N. Morton.  Pitfalls and Prospects in Genetic Epidemiology of Cancer , 1991 .

[29]  Bishop Dt,et al.  The genetics of colorectal cancer. , 1990 .

[30]  S. Winawer,et al.  Early identification of individuals at increased risk for cancer of the large intestine. Part I: definition of high risk populations. , 1981, Clinical bulletin.