Phenotypes for disease #05487 (cancer, rectal (cancer, rectal))

63 entries on 1 page. Showing entries 1 - 63.
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Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Tumor/MSI     

Diagnosis/Criteria     

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Individual ID     
0000144109 - - rectal, carcinoma Unknown - - 34y - MLH1+;MSH2-;MSH6-;PMS2+ - - Ian Frayling 00183380
0000144264 - - Bethesda positive; MSS Unknown - - 72y - MLH1+;MSH2+;MSH6+ - - Michael Woods 00183583
0000144265 - - Bethesda positive; skin cancer (82y) Unknown - - 35y - - - - Michael Woods 00183584
0000144272 - - Bethesda positive; 2 TAs (35y), 1 TA (60y), 3 TAs (61y), 3 TAs (62y) Unknown - - 57y - - - - Michael Woods 00183591
0000146968 - - Additional info: yes; Pedigree available: yes; Unknown 63y - 63y - - - - Sira Moreno 00187514
0000146978 - - Additional info: Rectum adenocarcinoma; Unknown 25y - 25y - MLH1+;MSH2_weak;MSH6-;PMS2+ MSI-H - INSiGHT group 00187545
0000147029 - - - Familial, autosomal dominant 68y - 68y - MLH1+;MSH2+;MSH6-;PMS2+ MSI-H - José Luis Soto 00187811
0000147168 - - 15y girl with a rectal cancer and a tubulovillous adenoma in the sigmoid colon. Unknown - - 15y - MLH1-;MSH2+;MSH6+;PMS2- MSI-H - Ian Frayling 00188517
0000147283 - - - Unknown - - 59y - MLH1+;MSH2+;MSH6-;PMS2+ - - InSiGHT - John-Paul Plazzer 00188773
0000147297 - - cancer, rectal (47) Unknown - - 47y - - - - Michael Woods 00188844
0000147766 - - - Unknown - - 47y - - - - Peng Nan 00194562
0000147859 - - Malignant neoplasm of rectum (C20) Unknown - - 40y - MLH1-;MSH2+;MSH6+;PMS2- MSI-H - INSiGHT group 00194768
0000147872 - - Malignant neoplasm of rectum (C20) Unknown - - 44y - MLH1-;MSH2+;MSH6+;PMS2- MSI-H - INSiGHT group 00194777
0000147934 - - Rectum adenocarcinoma Unknown - - 48y - MLH1-;MSH2+;MSH6+ MSI-H - INSiGHT group 00194865
0000147953 - - Rectum adenocarcinoma Unknown - - 30y - MLH1-;MSH2+;MSH6+;PMS2- MSI-H - INSiGHT group 00194915
0000147969 - - Malignant neoplasm of rectum (C20) Unknown - - 37y - - MSS - INSiGHT group 00194931
0000147973 - - Malignant neoplasm of rectum (C20) Unknown - - 37y - - MSS - INSiGHT group 00194935
0000148120 - - Rectum41 Unknown - - 41y - - - - INSiGHT group 00195129
0000148139 - - Rectal tumour: moderately well differentiated infiltrating adenoca Unknown - - - - MLH1+ - - INSiGHT group 00195145
0000148200 - - Malignant neoplasm of rectum (C020). Last known age: 47y Unknown - - 40y - - - - INSiGHT group 00195206
0000148225 - - Rectum adenocarcinoma Unknown - - 40y - MLH1-;MSH2+;MSH6+;PMS2- MSI-H - INSiGHT group 00195231
0000148379 - - Rectum Unknown - - 38y - MSH2+;MSH6+;MLH1+;PMS2+ MSS (0/5: BAT25, BAT26, NR-21, NR-24, Momo-27) - Ian Frayling 00195806
0000148513 - - Rectum (39y) BRAF-wt Unknown - - 39y - - MSI-H - Ian Frayling 00196644
0000148605 - - Malignant neoplasm of rectum Unknown - - 31y - MLH1+;MSH2-;MSH6-;PMS2+ MSI-H - INSiGHT group 00197436
0000148629 - - - Unknown - - 42y - MLH1+;MSH2-;MSH6-;PMS2+ MSI-H - INSiGHT group 00197576
0000148668 - - - Unknown - - 47y - - - - Peng Nan 00197852
0000148669 - - - Unknown - - 56y - - - - Peng Nan 00197853
0000148672 - - - Unknown - - 42y - MLH1+;MSH2-;MSH6-;PMS2+ MSI-H - INSiGHT group 00197857
0000148673 - - - Unknown - - 27y - MLH1+;MSH2-;MSH6-;PMS2+ MSI-H - INSiGHT group 00197868
0000148791 - - - Unknown - - 30y - MLH1+;MSH2-;MSH6-;PMS2+ MSI-H - INSiGHT group 00198471
0000149198 - - - Unknown - - 26y - - - - InSiGHT - John-Paul Plazzer 00200939
0000149318 - - rectal;carcinoma; BRAF V600E positive Unknown - - 35y - MLH1-;MSH2+;MSH6+ MSI-H referred to Genetics by: Surgeon; referral reason: Gastroenterologist Ian Frayling 00201502
0000149328 - - rectal;carcinoma; BRAF V600E negative Unknown - - 39y - - MSI-H - Ian Frayling 00201509
0000149338 - - rectal;carcinoma + 2-5 colorectal;AN Unknown - - 49y - MLH1+;MSH2-;MSH6-;PMS2+ - - Ian Frayling 00201514
0000149345 - - Rectal;Carcinoma 37y, Unknown - - 37y - - - - Ian Frayling 00201518
0000149349 - - rectal;carcinoma Unknown - - 16y - MLH1+;MSH2- MSI-H referred to Genetics by: Surgeon; Ian Frayling 00201521
0000149423 - - - Unknown - - 38y - - - - InSiGHT - John-Paul Plazzer 00201843
0000149424 - - Previously IHC was normal. Unknown - - 46y - - MSI was normal - InSiGHT - John-Paul Plazzer 00201844
0000149427 - - diagnosed with a bowel tumour in mid 40s Unknown - - - - MSH2-;MSH6- evidence of Microsatellite Instability - Joanne Field 00201859
0000149433 - - - Unknown - - 28y - - - - Ziada-Bouchaar Hadia 00201864
0000149434 - - - Unknown - - 41y - - - - Ziada-Bouchaar Hadia 00201865
0000149483 - - Rectal cancer diagnosed at; age 44; BRAF V600E negative Unknown - - 44y - - MSI-H - InSiGHT - John-Paul Plazzer 00202336
0000149489 - - ; BRAF V600E negative Unknown - - 29y - - MSI-H - InSiGHT - John-Paul Plazzer 00202341
0000149657 - - CRC; stage A; MSS; family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 28y; 21y-CRC rectum; diagnosis: colorectal symptoms; 36 polyps Unknown - 21y - - - - - Carli Tops 00202510
0000149668 - - CRC rectum stage B; family history AD;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 58y; 42y-CRC rectum; diagnosis: colorectal symptoms; polyposis Unknown - 40y - - - - - Carli Tops 00202521
0000149670 - - rectumca stage B; MSS; family history AD, parents consanguineous; Cervix ca. age 27, Breast cancer (T1N0M0) age 49;; 42y-CRC rectum; diagnosis: colorectal symptoms; 10-50 polyps Unknown - 42y - - - - - Carli Tops 00202523
0000149695 - - 30 polyps; CRC rectum; stage A; Age CRC 42; family history Sporadic;; diagnosis: colorectal symptoms; 30 polyps Unknown - 42y - - - - - Carli Tops 00202548
0000150233 - - No extracolonic manifestations; two siblings (43; 41 years) colonoscopic polypectomy for colorectal polyps; No upper gastrointestinal polyps; TPC with IPAA; CRC Rectum; 36 polyps; adenomas pancolonic Unknown - 39y - - - - - Astrid Out 00203086
0000150237 - - CHRPE; TPC with IPAA; CRC Rectum; 350 polyps Unknown - 33y - - - - - Astrid Out 00203090
0000150396 - - - Unknown - - - - - - - Mette Gaustadnes 00203249
0000150421 - - - Unknown - - - - - - - Mette Gaustadnes 00203274
0000150955 - - polyposis; 38y-CRC rectum; 30 polyps Unknown - 38y - - - - - Guido Plotz 00203808
0000151254 - - - Unknown - - 29y - MLH1- MSI-H - InSiGHT - John-Paul Plazzer 00204110
0000154624 - - Endometrial cancer at age 59, rectum cancer at age 67. Tissue Immunohistochemistry was suspicious for HNPCC, however, the result was nonspecific. Endometrial, breast and colonic cancer in the family Familial 76y 67y - - - - - Andreas Laner 00206835
0000175589 - - - Unknown - 24y - - MLH1+;MSH2+;MSH6+;PMS2+ - - InSiGHT - John-Paul Plazzer 00235327
0000185530 - - - Familial - 31y - - - - Family history criteria: Bethesda Gabriel Capella 00245617
0000185547 - - - Familial - 30y - - - - Family history criteria: Bethesda Gabriel Capella 00245627
0000185553 - - - Familial - 28y - - MLH1+;MSH2-;MSH6- MSI Family history criteria: Amsterdam II Gabriel Capella 00245630
0000186689 - - - Unknown - 48y - - MLH1+;MSH2-;MSH6+;PMS2+ MSI assay failed Universal screening in a research study InSiGHT - John-Paul Plazzer 00247311
0000186690 - - - Unknown - 41y - - MLH1+;MSH2+;MSH6+;PMS2+ MSI assay failed Universal screening in a research study InSiGHT - John-Paul Plazzer 00247312
0000186692 - - Malignant neoplasm of the recto-sigmoid junction; Patient had prior breast cancer [HP:0003002] Unknown - 54y - - MLH1+;MSH2+;MSH6+;PMS2+ Unknown Universal screening in a research study InSiGHT - John-Paul Plazzer 00247314
0000207759 - - - Unknown - 44y - - MLH1+;MSH2+;MSH6+;PMS2_weak MSS - InSiGHT - John-Paul Plazzer 00269964
0000271047 - - Rectal Familial, autosomal dominant - 28y - - - - - Treena Cranston 00375835
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