Types of hereditary digestive cancer

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Some forms of hereditary digestive cancer include:  

  • Lynch syndrome. This is the most common form of hereditary cancer. It is usually associated with colorectal cancer and endometrial cancer. It is caused by a mutation in one of the DNA repair genes (MLH1, MSH2, MSH6, PMS2). People carrying a mutation in one of these genes are more likely to mainly develop colorectal cancer and, in the case of women, endometrial cancer and/or ovary cancer. The following cancers may occur less frequently: stomach, renal urothelium, small intestine, central nervous system and skin tumors.
  • Familial adenomatous polyposis. This condition is caused by mutations in the APC gene. Carriers develop multiple polyps in their colon (adenomas). These polyps predispose the person to colorectal cancer at an early age if preventive surgery is not performed. It is also associated with polyps in the duodenum and other manifestations beyond the digestive system, such as desmoid tumours.  
  • MUTYH-associated polyposis. This condition is caused by biallelic mutations (in the genetic information inherited from both the father and the mother) in the MUTYH gene. Carriers of these mutations have a greater probability of developing multiple colorectal polyps and colorectal cancer, similar to familial adenomatous polyposis.  
  • Hereditary diffuse gastric cancer. This is a hereditary form of stomach cancer caused by mutations in the CDH1 gene. Carriers of mutations in this gene are more likely to develop diffuse gastric cancer and breast cancer.  
  • Other forms of hereditary digestive cancer. New sequencing technologies have made it possible to identify new predisposition genes such as POLE, POLD1 and NTHL1, among others. The risk of cancer associated with each of these genes is still being defined.
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