title: Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families: An analysis by a Brazilian Hereditary Colorectal Cancer Institutional Registry.
abstract: The two main forms of hereditary colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). Some families do not meet all the diagnostic criteria for HNPCC or FAP and are classified as familial colorectal cancer (FCC). Little information is available on the spectrum of tumors related to HNPCC and FCC in South America.
  
  
  OBJECTIVE
  To describe the frequency of malignant tumors in a group of Brazilian families with HNPCC or FCC in an Institutional Hereditary Colorectal Cancer Registry.
  
  
  METHODS
  The study included 61 families (29 HNPCC and 32 FCC) between January 1998 and June 2001. HNPCC families were clinically classified according to the Amsterdam Criteria I or II. FCC families were characterized by the presence of at least two individuals with CRC or extra-colonic tumors associated with the HNPCC spectrum, at least one of them being under 50 years of age.
  
  
  RESULTS
  In the 29 families with HNPCC, 201 patients with cancer were identified among 1241 individuals (589 men and 652 women). Among the 201 patients 223 tumors were observed: 137 CRC (55 in men and 82 in women) and 86 extra-colonic (37 in men and 49 in women). In the 32 families with FCC, 146 patients with cancer were identified among 1053 individuals (505 men and 548 women); 158 tumors were observed in 146 patients, 75 CRC (33 in men and 42 in women) and 83 extra-colonic tumors (47 in men and 36 in women). The most frequent extra-colonic primary sites among the HNPCC families were: endometrium (26.5%) and breast (26.5%) (women), and stomach (35.1%) (men). Among the FCC families, the most common primary sites were: breast (27.8%) (women), and stomach (44.4%) (men).
  
  
  CONCLUSIONS
  The high frequency of endometrial and gastric cancer found was expected, since these tumors are part of the HNPCC spectrum, but the high frequency of breast cancer requires further molecular investigation to determine a possible hereditary predisposition associated with hereditary CRC.
authors.affiliation: Department of Pelvic Surgery, Hospital do Cancer A.C. Camargo, Antonio Prudente Foundation, São Paulo, Brazil.
authors.forename: Fáblio
authors.initials: F
authors.lastname: Oliveira Ferreira
authors.forename: Claudia Cristina
authors.initials: CC
authors.lastname: Napoli Ferreira
authors.forename: Benedito Mauro
authors.initials: BM
authors.lastname: Rossi
authors.forename: Wilson
authors.initials: W
authors.lastname: Toshihiko Nakagawa
authors.forename: Samuel
authors.initials: S
authors.lastname: Aguilar
authors.forename: Erika Maria
authors.initials: EM
authors.lastname: Monteiro Santos
authors.forename: Marcelo Leite
authors.initials: ML
authors.lastname: Vierira Costa
authors.forename: Ademar
authors.initials: A
authors.lastname: Lopes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D000328:Adult; D017677:Age Distribution; D000368:Aged; D001938:Brazil / Q000453:epidemiology; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000556:secondary; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D016889:Endometrial Neoplasms / Q000453:epidemiology* / Q000556:secondary; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012042:Registries; D018570:Risk Assessment; D017678:Sex Distribution; D016019:Survival Analysis