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Mismatch repair gene analysis in Catalonian families with colorectal cancer
  1. M Palicio1,
  2. J Balmaña2,
  3. S González1,3,
  4. I Blanco4,
  5. E Marcuello2,
  6. M A Peinado5,
  7. G Julià5,
  8. J R Germà3,
  9. J J López López2,
  10. J Brunet2,
  11. G Capellà3
  1. 1Laboratori d'Investigació Gastrointestinal, Hospital de Sant Pau, Avda Sant Antoni M Claret 167, 08025 Barcelona, Spain
  2. 2Department of Medical Oncology, Hospital de Sant Pau, Avda Sant Antoni M Claret 167, 08025 Barcelona, Spain
  3. 3Institut Català d'Oncologia, Hospital Duran I Reynals, Av Gran Vía km 2.7, 08907 L'Hospitalet, Barcelona, Spain
  4. 4Fundació Catalana de Gastroenterologia, Barcelona, Spain
  5. 5Institut de Recerca Oncològica (Department of Cancer & Metastasis), Hospital Duran I Reynals, Av Gran Vía km 2.7, 08907 L'Hospitalet, Barcelona, Spain
  1. Correspondence to:
 Dr G Capellá, Laboratori de Recerca Translacional, Institut Català d'Oncologia. Av Gran Via s/n, km 2.7, 08907 L'Hospitalet, Barcelona, Spain;
 gcapella{at}ico.scs.es

https://doi.org/10.1136/jmg.39.6.e29

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    Colorectal cancer (CRC) is one of the most common malignant neoplasms in western countries.1 Hereditary non-polyposis colorectal cancer (HNPCC) is thought to represent the most common form of familial colorectal carcinoma and may account for approximately 1-6% of all colorectal cancers.2 The clinical phenotype of HNPCC is variable, and there is no distinctive clinical hallmark, such as the presence of more than 100 adenomatous polyps in familial adenomatous polyposis (FAP). Therefore, stringent diagnostic criteria, essentially based on personal and family cancer history, have been adopted for the purpose of identifying HNPCC families. The Amsterdam Criteria for HNPCC diagnosis include: (1) the presence of three or more patients affected with CRC or HNPCC related tumours (mainly endometrial cancer), two of whom must be first degree relatives (sib, parent, or offspring) to the other one; (2) vertical transmission of CRC in two successive generations, indicative of autosomal dominant inheritance; (3) early onset (<50 years) of at least one CRC or HNPCC related tumour in the family; and (4) exclusion of FAP.3,4 However, Amsterdam criteria can be too restrictive when applied to small kindreds, abundant in western countries.5 In addition, those cases likely to represent the first mutation in a family, usually single affected members diagnosed before the age of 45, may be missed. Finally, difficulty in eliciting a complete and accurate cancer family history may preclude widespread use of these clinical criteria.6,7

    hMSH2 and hMLH1 are considered to be the two major genes responsible for HNPCC.8 Initially, germline mutations in these genes were detected in up to 90% of HNPCC families suggesting that the Amsterdam criteria were useful for selecting kindreds which were candidates for genetic analyses. Nowadays, there is general agreement that approximately 40-50% of families meeting the Amsterdam criteria have detectable hMSH2 …

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