IllnessEndometrium cancer [heritable, susceptibility]

NGS +

[Sanger]

Endometrial cancer can run in families. These families also have a higher risk for colon cancer, i.e. HNPCC (Lynch syndrome). In many cases, HNPCC is caused by a defect in mismatch repair genes MLH1, MSH2, MLH3, MSH6, TGBR2, PMS1, PMS2. Mutation(s) in any one of these genes reduces the ability to repair DNA damage. This results in a very high risk of cancer, especially also endometrial cancer. Women with this syndrome have a up to a 70% risk of developing endometrial cancer, while the risk for women in general is ~3%. The risk of ovarian cancer is also increased.

• Alias: Uterus-Karzinom
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Cowden syndrome 1 (PTEN)
• Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Endometrial cancer, familial (MSH6)
• Endometrial carcinoma
• Fumarase deficiency (FH)
• Glioma susceptibility 2 (PTEN)
• Leiomyomatosis + renal cell cancer (FH)
• Lhermitte-Duclos syndrome (PTEN)
• Macrocephaly/autism syndrome (PTEN)
• Meningioma (PTEN)
• Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Muir-Torre syndrome (MLH1, MSH2)
• Prostate cancer, somatic (PTEN)