Disease #05496 (cancer, kidney (cancer, kidney))

Official abbreviation cancer, kidney
Name cancer, kidney
OMIM ID -
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 19
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2018-11-02 15:54:45 +01:00 (CET)
Date last edited N/A


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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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) - - - - - 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
00188802 - - - ? - - - - - - - ?, cancer, brain, cancer, kidney >6 café-au-lait spots, glioblastoma, young onset(4), Wilm's tumor MLH1 MLH1 2 1 Michael Woods
00188854 - PubMed: Wagner 2003, PubMed: Poley 2007 from large family (20028); boy 4y, >6 café-au lait spots;InSiGHT LOVDv2 ID:193; M - Netherlands - - - - - ?, cancer, brain, cancer, kidney café-au lait spots, glioblastoma, tumor, Wilms MLH1 MLH1 1 1 Carli Tops
00189864 - PubMed: Wagner 2003, PubMed: Poley 2007 from large family (20028); boy 4y, >6 café-au lait spots;InSiGHT LOVDv2 ID:1003271; M - Netherlands - - - - - ?, cancer, brain, cancer, kidney café-au lait spots, glioblastoma, tumor, Wilms MLH1 MLH1 1 1 Carli Tops
00191180 - - - ? - - - - - - - cancer, brain, cancer, kidney glioblastoma, Wilm's tumor MLH1 MLH1 1 1 Michael Woods
00192891 - - - ? - - - - - - - cancer, cancer, kidney, CRC biliary tract cancer (65), cancer, kidney (62), colon cancer (45) MLH1 MLH1 1 1 Michael Woods
00192892 - - - ? - - - - - - - cancer, kidney, CRC cancer, kidney (77), colon cancer (64) MLH1 MLH1 1 1 Michael Woods
00192893 - - - ? - - - - - - - cancer, kidney, cancer, skin, CRC cancer, kidney (62), colon cancer (45), skin (62) MLH1 MLH1 1 1 Michael Woods
00193017 - - - ? - - - - - - - cancer, kidney cancer, renal cell sporadic & controls MLH1 MLH1 1 1 Michael Woods
00193559 - - - ? - - - - - - - cancer, kidney cancer, renal cell sporadic MLH1 MLH1 1 1 Michael Woods
00194674 - - - M - Kuwait Arab - - additional info and pedigree - cancer, kidney, CRC cancer, colon, renal cell carcinoma (primary also)(44) MLH1 MLH1 1 1 Makia Marafie
00196424 - - - ? - - - - - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00197309 - - - ? - - - - - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00197555 - - - ? - - - - - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00201831 - PubMed: Hu 2017 family could be diagnosed as having Lynch syndrome if they were excluded from familial adenomatous polyposis (FAP). In fact, patients who were still alive were all proved to be FAP-negative by colonoscopy during the regular follow-up F - China Chinese - - - - cancer, cancer, breast, cancer, kidney, cancer, endometrial , Left renal pelvis, Right breast, small intestine cancer - MSH2 1 1 InSiGHT - John-Paul Plazzer
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 - - - - - cancer, bladder, cancer, kidney, cancer, prostate, CRC - - MSH2 1 1 InSiGHT - John-Paul Plazzer
00202334 - PubMed: Duraturo 2015 - - - Italy - - - - - cancer, kidney, CRC, HNPCC (Lynch) Cancer of the ascending colon; at age 44; BRAF V600E negative, sister died of colon; cancer at age 53. - MLH1 1 1 InSiGHT - John-Paul Plazzer
00263975 - - - M - (United States) - - - - - cancer, kidney - - PMS2 1 2 InSiGHT - John-Paul Plazzer
00412306 TCGA-A3-3346-01 - COSMIC sample ID COSS1779783 M - - - - - - - cancer, kidney - - SMAD9 1 1 Litika Vermani
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