Disease #00031

Official abbreviation -
Name cancer, kidney
OMIM ID -
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 0 genes -
Associated tissues kidney
Disease features -
Remarks -


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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Remarks     

Pedigree information available     

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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
00016242 - ? - - InSiGHT LOVDv2 ID:63; - - - cancer, brain, cancer, kidney, other >6 café-au-lait spots, glioblastoma, young onset(4), Wilm's tumor MLH1 MLH1 2 1 Michael Woods
00016294 Wagner et al, 2003, Poley et al. 2007 M NL - from large family (20028); boy 4y, >6 café-au lait spots;InSiGHT LOVDv2 ID:193; - - - cancer, brain, cancer, kidney, other café-au lait spots, glioblastoma, tumor, Wilms MLH1 MLH1 1 1 Carli Tops
00017306 Wagner et al, 2003, Poley et al. 2007 M NL - from large family (20028); boy 4y, >6 café-au lait spots;InSiGHT LOVDv2 ID:1003271; - - - cancer, brain, cancer, kidney, other café-au lait spots, glioblastoma, tumor, Wilms MLH1 MLH1 1 1 Carli Tops
00018644 - ? - - InSiGHT LOVDv2 ID:1004646; - - - cancer, brain, cancer, kidney glioblastoma, Wilm's tumor MLH1 MLH1 1 1 Michael Woods
00020355 - ? - - InSiGHT LOVDv2 ID:1006520; - - - CRC, cancer, cancer, kidney biliary tract cancer (65), cancer, kidney (62), colon cancer (45) MLH1 MLH1 1 1 Michael Woods
00020356 - ? - - InSiGHT LOVDv2 ID:1006521; - - - CRC, cancer, kidney cancer, kidney (77), colon cancer (64) MLH1 MLH1 1 1 Michael Woods
00020357 - ? - - InSiGHT LOVDv2 ID:1006522; - - - CRC, cancer, kidney, cancer, skin cancer, kidney (62), colon cancer (45), skin (62) MLH1 MLH1 1 1 Michael Woods
00020481 - ? - - InSiGHT LOVDv2 ID:1006659; - - - cancer, kidney cancer, renal cell sporadic & controls MLH1 MLH1 1 1 Michael Woods
00021023 - ? - - InSiGHT LOVDv2 ID:1007249; - - - cancer, kidney cancer, renal cell sporadic MLH1 MLH1 1 1 Michael Woods
00022146 - M KW Arab InSiGHT LOVDv2 ID:1013344; Yes AI+; Additional info: yes; Pedigree available: yes; Colorectal symptoms CRC, cancer, kidney cancer, colon, renal cell carcinoma (primary also)(44) MLH1 MLH1 1 1 Makia Marafie
00023904 - ? - - InSiGHT LOVDv2 ID:1000168; - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00024790 - ? - - InSiGHT LOVDv2 ID:1000134; - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00025036 - ? - - InSiGHT LOVDv2 ID:1001589; - - - cancer, kidney sporadic renal cell carcinoma MSH2 MSH2 1 1 Michael Woods
00034088 Hu et al. 2017 F China Chinese - Yes "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." - cancer, cancer, breast, cancer, endometrial, cancer, kidney , Left renal pelvis, Right breast, small intestine cancer - MSH2 1 1 John Paul Plazzer
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
00034595 Duraturo et al. 2015 - Italy - - - Bethsesda; sister died of colon cancer at age 53. - CRC, Lynch Syndrome, cancer, kidney , Cancer of the ascending colon at age 44 - MLH1 1 1 John Paul Plazzer
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