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

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Pedigree information available: Pedigree information available
All options:

Family History: Amsterdam (I, II, no, ?), Bethesda (yes, no, ?) or summary of family history

Selection criteria for proband testing: Family history, MSI, IHC

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

13 entries on 1 page. Showing entries 1 - 13.

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Individual ID	Reference	Gender	Geographic origin	Ethnic origin	Remarks	Pedigree information available	Family History	Selection criteria for proband testing	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
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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