Disease #00315

Official abbreviation cancer, bladder
Name cancer, bladder
OMIM ID 109800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 58
Phenotype entries for this disease 58
Associated with 4 genes FGFR3, HRAS, KRAS, RB1
Associated tissues -
Disease features -
Remarks -


Individuals

58 entries on 1 page. Showing entries 1 - 58.
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00105385 ? {PMID8:Hazra 2008:1264916} - - - - - - 0 - - cancer, bladder Bladder cancer TNFRSF10A TNFRSF10A 1 1 Zoe Baily
00105399 ? PubMed: Kim 2000 - - - - - - 0 - - cancer, bladder Bladder cancer TNFRSF10A TNFRSF10A 1 1 Zoe Baily
00186929 - - - - - Finland - - 0 - - cancer, bladder, CRC - MLH3 MLH3 1 1 Rolf Sijmons
00187437 - - - M - United Kingdom (Great Britain) - - 0 - - cancer, bladder Additional info: yes; Papillary TCC bladder (45y) Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00188508 - - father 65 y colon-ca, 68 y small intestine-ca, 70 y gastric-ca F - Germany - - 0 - - ?, cancer, bladder 58 y colon C coecal + colon C right flexure, 60 y endometrial C MSH2, MSH6 MSH6 1 1 Elke Holinski-Feder
00188773 - - 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 F - United Kingdom (Great Britain) - - 0 - - cancer, bladder, cancer, kidney, cancer, ovarian, cancer, rectal, cancer, endometrial , Renal cancer at 59y (clear cell), Urothelial bladder carcinoma at 76y MSH2, MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00193560 - - - ? - - - - 0 - - cancer, bladder, cancer, prostate cancer, urinary bladder (67), prostate cancer (62) MLH1 MLH1 1 1 Michael Woods
00195255 - - Last known age healthy/unknown disease: 60;InSiGHT LOVDv2 ID:1016864; F - - - - 0 - - cancer, bladder papillary urothelial cell carcinoma. Last known age: 60y MLH1, MSH6 MLH1, MSH6 2 1 INSiGHT group
00196489 - - - M - - - - 0 - - cancer, bladder Urothelian neoplasm of the bladder MSH2 MSH2 1 1 INSiGHT group
00197437 - - - M - - - - 0 - - cancer, bladder Urothelian neoplasm of the bladder MSH2 MSH2 1 1 INSiGHT group
00200360 - - - F - - - - 0 - - cancer, bladder Bladder PMS2 PMS2 1 1 INSiGHT group
00201838 - PubMed: Zumstein 2016 1 sister (endometrial cancer, 40 y; brain tumour, 49; y), 1 paternal aunt (endometrial cancer, 40 y); Healthy: 2 children, 1 nephew, 4 grandchildren M - Switzerland - - 0 - - cancer, bladder, cancer, kidney, cancer, lung, CRC, cancer, prostate - - MSH2 1 1 InSiGHT - John-Paul Plazzer
00201860 - - 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 M - (United Kingdom (Great Britain)) - - 0 - - cancer, bladder, CRC Diagnosed with a bowel tumour age 48., Suspected TCC bladder age 62 - MSH6 1 1 Joanne Field
00203679 17203305_patients_c-127_HET PubMed: Figueroa 2007 - - - Spain - - 0 - - cancer, bladder - MUTYH MUTYH 1 55 Astrid Out
00203680 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - cancer, bladder - MUTYH MUTYH 2 1 Astrid Out
00203683 17220334_patients_c1014 PubMed: Huang 2007 605 bladder cancer patients: 271 (44.8%) heterozygous c.1014G>C; 594 controls: 294 (42.8%) heterozygous or homozygous - - United States - - 0 - - cancer, bladder - MUTYH MUTYH 1 271 Astrid Out
00223480 - PubMed: Hornigold, 1999; PubMed: Knowles, 2003; PubMed: Knowles, 2003; PubMed: Pymar, 2008 somatic variant in bladder tumour DNA; not seen in germline of patient; wrongly described as H58R in Table 2; evolutionarily conserved sequence ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223482 - PubMed: van Tilborg, 2001; PubMed: Knowles, 2003; PubMed: Knowles, 2003; PubMed: Guo, 2013 no TSC features in patient; same transitional cell carcinoma cell line reported in all papers ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223484 - PubMed: Adachi, 2003 found in bladder tumour (transitional cell carcinoma) DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223485 - PubMed: Adachi, 2003; PubMed: Hoogeveen-Westerveld, 2011 tumour specific variant; found in bladder tumour (transitional cell carcinoma) DNA and not in normal bladder or lymphocytes ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223491 - PubMed: Knowles, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223492 - PubMed: Knowles, 2003; PubMed: Knowles, 2003; PubMed: Pymar, 2008 somatic variant in bladder tumour DNA; not seen in germline of patient; evolutionarily conserved sequence ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223495 - PubMed: Adachi, 2003 variant found in bladder tumour (transitional cell carcinoma) DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223496 - PubMed: van Tilborg, 2001; PubMed: Knowles, 2003 somatic variant in bladder tumour DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223498 - PubMed: Knowles, 2003; PubMed: Knowles, 2003 variant found in bladder tumour DNA (somatic) ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223514 - PubMed: Hornigold, 1999; PubMed: Knowles, 2003 variant found in normal DNA of patients with bladder tumours ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223518 - PubMed: Hornigold, 1999; PubMed: Knowles, 2003; PubMed: Knowles, 2003 somatic variant in bladder tumour DNA; not seen in normal DNA of patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223522 - PubMed: Knowles, 2003 germline variant; found in both blood and bladder tumour DNA; reported as IVS11-33G>A ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223524 - PubMed: Knowles, 2003; PubMed: Knowles, 2003 germline variant; found in both blood and bladder tumour DNA of the patient; no TSC features in patient or other family members; sequence not evolutionarily conserved ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223530 - PubMed: Adachi, 2003 variant found in bladder tumour ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 5 Rosemary Ekong
00223533 - PubMed: Hornigold, 1999 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 2 Rosemary Ekong
00223534 - PubMed: Hornigold, 1999; PubMed: van Tilborg, 2001; PubMed: Knowles, 2003; PubMed: Knowles, 2003; PubMed: Guo, 2013 no TSC features in patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223551 - PubMed: Knowles, 2003 germline variant (polymorphism) found in bladder tumour DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223552 - PubMed: Adachi, 2003 germline variant found in 4/37 bladder tumour DNA; considered a polymorphism as variant also present in normal bladder and lymphocyte DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 4 Rosemary Ekong
00223553 - PubMed: Hornigold, 1999; PubMed: Knowles, 2003; PubMed: Knowles, 2003 variant not seen in germline of patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223566 - PubMed: Knowles, 2003; PubMed: Knowles, 2003 somatic variant found in bladder tumour DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223582 - PubMed: Knowles, 2003; PubMed: Knowles, 2003; PubMed: Guo, 2013 somatic variant in bladder tumour-derived cell line; possibility of being germline variant not excluded as non-tumour DNA unavailable; no TSC features in patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223592 - PubMed: Hornigold, 1999; PubMed: Knowles, 2003; PubMed: Knowles, 2003 variant found in bladder tumour DNA (somatic); not seen in normal DNA of patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223597 - PubMed: Knowles, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223603 - PubMed: Hornigold, 1999 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 4 Rosemary Ekong
00223604 - PubMed: van Tilborg, 2001 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 5 Rosemary Ekong
00223605 - PubMed: Knowles, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223606 - PubMed: Adachi, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 5 Rosemary Ekong
00223607 - PubMed: Knowles, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223608 - PubMed: Adachi, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223614 - PubMed: Knowles, 2003 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223625 - PubMed: Hornigold, 1999 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00223636 - PubMed: Adachi, 2003 found in bladder tumour (transitional cell carcinoma) DNA ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224228 - PubMed: Iyer, 2013 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224229 - PubMed: Guo, 2013 variant in bladder tumour from patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224230 - PubMed: Guo, 2013 variant in bladder tumour from patient ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224231 - PubMed: Iyer, 2013 bladder cancer patient on everolimus trial; patient had 7% tumour regression ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224232 - PubMed: Guo, 2013 bladder cancer cell line ? - - - - 0 - - cancer, bladder - TSC1 TSC1 2 1 Rosemary Ekong
00224233 - PubMed: Iyer, 2013 bladder cancer patient on everolimus trial; patient had 17% tumour regression ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224234 - PubMed: Iyer, 2013 - ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224235 - PubMed: Iyer, 2013 index patient with metastatic bladder tumour; >80% tumour shrinkage in everolimus trial ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224236 - PubMed: Iyer, 2013 bladder cancer patient on everolimus trial; patient had ~5% disease progression ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
00224237 - PubMed: Iyer, 2013 bladder cancer patient on everolimus trial; patient had 24% tumour regression ? - - - - 0 - - cancer, bladder - TSC1 TSC1 1 1 Rosemary Ekong
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