IllnessColon cancer, hereditary non-polyposis; differential diagnosis

KP5350_DH

Lynch syndrome, often referred to as hereditary non-polyposis colorectal cancer (HNPCC), is the most common cause of hereditary colorectal cancer. HNPCC is caused by pathogenic germline variants in the DNA "mismatch repair" genes (MLH1, MSH2, MSH6, PMS2). HNPCC is characterized not only by an increased risk of colorectal cancer but also cancers of the endometrium, stomach, ovary, small intestine, hepatobiliary tract, urinary tract, brain and skin. The following lifetime cancer risks apply for colorectal cancer: 52%-82% (average age at diagnosis 44-61 years); Endometrial cancer in women: 25%-60% (average age at diagnosis 48-62 years), Stomach cancer: 6%-13% (average age at diagnosis 56 years); Ovarian cancer: 4%-12% (average age at diagnosis 42.5 years). The mutation detection probability of the core panel is close to 100%. The additional genes of the panel cover the major differential diagnoses.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1211/

• Alias: Colon-Ca.
• Alias: Darmkrebs
• Alias: Familial nonpolyposis colon cancer
• Alias: Hereditary nonpolyposis colorectal cancer, HNPCC
• Alias: Kolorektalkarzinom
• Alias: Lynch syndrome
• Alias: Rektum-Ca.
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Endometrial carcinoma, somatic (MSH3)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: FILS syndrome (POLE)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: IMAGE-I syndrome (POLE)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Loeys-Dietz syndrome 2 (TGFBR2)
• Allelic: Macrocephaly/autism syndrome ((PTEN)
• Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Osteosarcoma (TP53)
• Allelic: Osteosarcoma, somatic (CHEK2)
• Allelic: Pancreatic cancer, somatic (TP53)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (POLD)
• Brain tumor-polyposis syndrome 2 (APC)
• Colorectal cancer (TP53)
• 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 6 (TGFBR2)
• Colorectal cancer, hereditary nonpolyposis, type 7 (MLH3)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, somatic (MLH3)
• Colorectal cancer, susceptibility to (CHEK2)
• Colorectal cancer, susceptibility to, 10 (POLD1)
• Colorectal cancer, susceptibility to, 12 (POLE)
• Cowden syndrome 1 (PTEN)
• Diamond-Blackfan anemia 9 (RPS10)
• Familial adenomatous polyposis 3 (NTHL1)
• Familial adenomatous polyposis 4 (MSH3)
• Gardner syndrome (APC)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Li-Fraumeni syndrome 2 (CHEK2)
• Peutz-Jeghers syndrome (STK11)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Sessile serrated polyposis cancer syndrome (RNF43)