Phenotypes for disease #00513 (HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)), OMIM:120435)

11 entries on 1 page. Showing entries 1 - 11.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/IHC     

Tumor/MSI     

Owner     

Individual ID     
0000029149 Caecal Adenocarcinoma - - Unknown - - 46y - - MLH1:Positive; MSH2:Positive; MSH6:Positive; PMS2:Positive (PMS2 had weak focal positivity) MSI-H Ruth Armstrong 00038793
0000034320 Endometrial (53y) - - Unknown - - - - - MLH1, MSH2+, MSH6-, PMS2+ - InSiGHT - John-Paul Plazzer 00046950
0000038642 - - - Unknown - - - - - MLH1+, MSH2+, MSH6+, PMS2- MSI-H Ian Berry 00052040
0000038643 - - - Unknown - - - - - MLH1+, MSH2+, MSH6+, PMS2- LOST (tumour & normal tissue) MSI-H Ian Berry 00052042
0000038644 - - - Unknown - - - - - MLH1+, MSH2+, MSH6+, PMS2- n/a Ian Berry 00052043
0000043905 HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y; family history A+ - - Familial - - 43y - - - - Johan den Dunnen 00057225
0000043906 colorectal cancer 42y - - Familial - - 42y - - - - Johan den Dunnen 00057226
0000244582 HP:0002672 Signet ring cell carcinoma of rectum HNPCC (Lynch syndrome) Familial, autosomal dominant 23y 25y 23y HP:0002672 - - Microsatellite stable Harsh Sheth 00326097
0000244583 HP:0002672 Adenocarcinoma of caecum and ascending colon Lynch syndrome (HNPCC) Familial, autosomal dominant 37y 37y 37y HP:0002672 - - Microsatellite unstable Harsh Sheth 00326098
0000278409 - Adenocarcinoma of the ascending colon - Familial, autosomal dominant - - - - - - - Andreas Laner 00384619
0000295786 Transverse colon cancer diagnosed at age 65, 10 tubular adenomas with low grade dysplasia and 10 serrated polyps - - Familial, autosomal dominant - - - - - NAD - Sarah Collis 00403039
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