Disease #00003

Official abbreviation -
Name cancer, bladder
OMIM ID 109800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 2 genes MLH3, MSH3
Associated tissues -
Disease features -
Remarks -


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00002490 - M UK - InSiGHT LOVDv2 ID:1017163; This data has been transferred from InSiGHT LOVDv2 database. - AII+; - cancer, bladder Additional info: yes; Papillary TCC bladder (45y) Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00003604 - F Germany - - - father 65 y colon-ca, 68 y small intestine-ca, 70 y gastric-ca IHC loss of MSH2 + MSH6, MSI-H cancer, bladder, neoplasia, colorectal, early onset 58 y colon C coecal + colon C right flexure, 60 y endometrial C MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00003919 - F UK - Ovarian cancer at 36y (or cysts?), Rectal cancer at 59y, Renal cancer at 59y (clear cell), Endometrial cancer at 59y, Urothelial bladder carcinoma at 76y IHC: Negative for MSH6 (endometrial and rectal tumours) MSH2 – no mutations detected - Proband’s father had colorectal cancer aged 66 (now deceased) Proband’s paternal uncle had colorectal cancer in his late 40s (now deceased) Proband’s paternal uncle’s son: Transitional cell cancer of ureter at 74y, Colorectal cancer at 72y Microsatellite markers – unstable IHC studies have been conducted again on the colorectal and endometrial tumours. This time there was positive staining for MSH2, MLH1 and PMS2, and only negative staining for MSH6 BRAF V600E absent MSH6 variant present - cancer, bladder, cancer, endometrial, cancer, kidney, cancer, ovarian, cancer, rectal , Renal cancer at 59y (clear cell), Urothelial bladder carcinoma at 76y MSH2, MSH6 MSH6 1 1 John Paul Plazzer
00021024 - ? - - InSiGHT LOVDv2 ID:1007250; - - - cancer, bladder, cancer, prostate cancer, urinary bladder (67), prostate cancer (62) MLH1 MLH1 1 1 Michael Woods
00022727 - F - - Last known age healthy/unknown disease: 60;InSiGHT LOVDv2 ID:1016864; - AMS- - cancer, bladder papillary urothelial cell carcinoma. Last known age: 60y MLH1, MSH6 MLH1, MSH6 2 1 InSiGHT group
00023970 - M - - InSiGHT LOVDv2 ID:1016085; - Bethesda - cancer, bladder Urothelian neoplasm of the bladder MSH2 MSH2 1 1 InSiGHT group
00024918 - M - - InSiGHT LOVDv2 ID:1016088; - Bethesda - cancer, bladder Urothelian neoplasm of the bladder MSH2 MSH2 1 1 InSiGHT group
00027897 - F - - InSiGHT LOVDv2 ID:1016709; - Bethesda - cancer, bladder Bladder PMS2 PMS2 1 1 InSiGHT group
00034095 Zumstein et al. 2016 M Switzerland - - - 1 sister (endometrial cancer, 40 y; brain tumour, 49 y), 1 paternal aunt (endometrial cancer, 40 y) Healthy: 2 children, 1 nephew, 4 grandchildren - cancer, lung, CRC, cancer, bladder, cancer, kidney, cancer, prostate - - MSH2 1 1 John Paul Plazzer
00034117 - M (UK) - Supposed unrelated family to other submitted patient with this variant. - No one else available to test-no clear history of cancer –father died 80, mother died 96-nil of other 5 sibs with cancer (one died at 21? Cause-other 4 70+) No cancer in three children to date –early 40s - CRC, cancer, bladder Diagnosed with a bowel tumour age 48., Suspected TCC bladder age 62 - MSH6 1 1 Joanne Field
00035940 Figueroa 2007 - Spain - - - - - cancer, bladder - MUTYH MUTYH 1 55 Astrid Out
00035941 Figueroa 2007 - Spain - - - - - cancer, bladder - MUTYH MUTYH 2 1 Astrid Out
00035944 Huang 2007 - United States - 605 bladder cancer patients: 271 (44.8%) heterozygous c.1014G>C; 594 controls: 294 (42.8%) heterozygous or homozygous - - - cancer, bladder - MUTYH MUTYH 1 271 Astrid Out
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