Disease #00315

Official abbreviation cancer, bladder
Name cancer, bladder
OMIM ID 109800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 60
Phenotype entries for this disease 60
Associated with 4 genes FGFR3, HRAS, KRAS, RB1
Associated tissues -
Disease features -
Remarks -


Individuals

60 entries on 1 page. Showing entries 1 - 60.
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AscendingIndividual ID     
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Genes screened
Variants in genes
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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, cancer, prostate, CRC - - 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
00263416 - PubMed: Bellmunt 2018 patient with locally advanced or metastatic urothelial cancer and pathological confirmation; previous treatment with 1-3 systemic chemotherapy; disease progressed on standard Tx; stable disease with combination Tx ? ? - - - 0 - Everolimus and Pazopanib cancer, bladder Transitional cell bladder carcinoma (HP:0006740) AKT1, FGFR1, FGFR2, FGFR3, FGFR4, KIT, MTOR, PDGFRA, PDGFRB, PIK3CA, PTEN, TSC1, TSC2, VHL TSC1 1 1 Rosemary Ekong
00263417 - PubMed: Bellmunt 2018 patient with locally advanced or metastatic urothelial cancer and pathological confirmation; previous treatment with 1-3 systemic chemotherapy; disease progressed on standard Tx; partial response with combination Tx ? - - - - 0 - Everolimus and Pazopanib cancer, bladder Transitional cell carcinoma of the bladder (HP:0006740) AKT1, FGFR1, FGFR2, FGFR3, FGFR4, KIT, MTOR, PDGFRA, PDGFRB, PIK3CA, PTEN, TSC1, TSC2, VHL TSC1 1 1 Rosemary Ekong
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