Disease #00423

Official abbreviation -
Name cancer, endometrial
OMIM ID 608089
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 193
Phenotype entries for this disease 160
Associated with 5 genes CDH1, MLH3, MSH3, MSH6, PTEN
Associated tissues -
Disease features -
Remarks -


Individuals

193 entries on 2 pages. Showing entries 1 - 100.
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00186953 - - - - - Finland - - 0 - - cancer, cancer, ovarian, cancer, endometrial , Tumour type not specified for Protein expression result. MLH3 MLH3 1 1 Rolf Sijmons
00186964 - - - ? - Finland - - 0 - - ?, cancer, cancer, ovarian, cancer, endometrial , Tumour type not specified for Protein Expression result MLH3 MLH3 1 1 Rolf Sijmons
00187020 - - Patient did not have a family history suggestive of inherited cancer susceptibility. F - - white - 0 - - cancer, endometrial poorly differentiated endometrioid adenocarcinoma tumor specimen MLH3 MLH3 1 1 InSiGHT - John-Paul Plazzer
00187021 - InSiGHT Variant Interpretation Committee April 2016 The family's details are as follows:; Proband Dx uterine cancer 57y, IHC loss of MSH6 + MSH2, MSH6 variant identified (attached report); Proband's sister Dx CRC 29y, IHC weak expression of MSH6, MSH6 variant identified; Three other sisters; one has annual cy and has had TAH/BSO (unknown mutation status), one reports having a number of adenomatous polyps removed with one of a larger size (currently chasing confirmation in order to perform IHC and patient has consented to have testing for the variant); Update: One sister has been found to have the MSH6 variant; she has a PHx of multiple polyps. Confirmed she has had at least 4 adenomas and 7 hyperplastic polyps since age 32y. ; Update: One sister has been found to be negative for the variant; she has been having annual colonoscopies and reports a couple of small polyps have been found during this time. We have been able to access her most recent colonoscopy finding a 2mm TA at 55years of age.; Mother Dx CRC 67, IHC loss of MLH1 + PMS2, BRAF wild type, no mutations in MLH1 or PMS2 (sequencing + MLPA), does NOT have MSH6 variant, currently awaiting MLH1 promotor methylation results; Mother has two sisters with CRC (one at 62y, one at 63y); Father reportedly Dx prostate cancer later in life, died at 90y; Paternal grandfather reportedly Dx CRC early 70s; No other known paternal FHx; Strong FHx CRC - - Australia - - 0 - - cancer, endometrial - MSH2, MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00187060 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00187065 - - - F - Spain - - 0 - - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 José Luis Soto
00187144 - PubMed: Hampel 2006 - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00187172 - - Mother CRC at 77 -no tumour or germline testing; Mat aunt EC at 58 - MSH6-, no germline testing; InSiGHT LOVDv2 ID:1017166; F - United States white, British - 0 - - cancer, endometrial Additional info: yes; clear cell ovarian (46yr) and endometrioid endometrial (46yrs) Pedigree available: yes; MSH6 MSH6 1 1 Helen Hanson
00187198 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187229 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00187377 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187384 - - - F - - - - 0 - - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 2 1 INSiGHT group
00187413 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187481 - - - F - - - - 0 - - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 1 1 INSiGHT group
00187495 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 2 1 Michael Woods
00187514 - - - F - (Spain) - - 0 - - cancer, rectal, cancer, endometrial , Additional info: yes; Pedigree available: yes; MSH6 MSH6 1 1 Sira Moreno
00187565 - - Brother CRC 66y with abnormal MSH6 expression, but variant and MSI status unknown.; InSiGHT LOVDv2 ID:1017161; F - United Kingdom (Great Britain) - - 0 - - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00187566 - - One of 3 identical triplets, who have also developed endometrial cancer at ages 51 and 52.; InSiGHT LOVDv2 ID:1017162; F - United Kingdom (Great Britain) - - 0 - - cancer, endometrial Additional info: no; Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00187572 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187584 - - - F - (Netherlands) - - 0 - - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 Amie Blanco
00187591 - - - F - Cuba Hispanic - 0 - - cancer, endometrial Pedigree available: yes; MSH6 MSH6 1 1 Rachel Silva-Smith
00187619 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187655 - - - F - - - - 0 - - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 1 1 INSiGHT group
00187658 - - - - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Sira Moreno
00187690 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 3 1 Amanda Spurdle
00187701 - - this patient had two other tumors (breast and pancreatic cancer); InSiGHT LOVDv2 ID:1008483; F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Felipe Silva
00187704 - - Brother with mutliple colorectal polyps (untested); InSiGHT LOVDv2 ID:1017208; F - United Kingdom (Great Britain) - - 0 - - cancer, endometrial Additional info: grade 2 endometrioid adenocarcinoma Pedigree available: yes; MSH6 MSH6 2 1 Matilda Bradford
00187712 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00187810 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 2 1 Amanda Spurdle
00187862 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187883 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Carli Tops
00187898 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00187948 - - - F - Spain - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Daniel Rueda
00188068 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188070 - - - F - Australia - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188073 - - - - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Anne Jansen
00188114 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 2 1 Amanda Spurdle
00188129 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188193 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188203 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188217 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188227 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188228 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188229 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188277 - - Family history: brother-colon & kidney(49), sister-uterus(56), sister-uterus(36) & cervix(52), sister-uterus(36), mother-uterus(48) & colon(59) ; InSiGHT LOVDv2 ID:1008356; M - Canada French Canadian - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188292 - - - F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00188307 - - - F - Australia - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00188318 - - - F - - - - 0 - - cancer, endometrial Additional info: cancer, endometrial; MSH6 MSH6 1 1 Michael Woods
00188353 - - uterus 49y - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00188354 - - Endomet56 - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00188355 - - Endomet56 - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00188367 - - - F - - - - 0 - - ?, cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00188385 - - - - - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 INSiGHT group
00188414 - PubMed: Ward (2013) - F - United States white - 0 - - CRC, cancer, endometrial cecum, 2x uterus (64y,66y,66y) MLH1, MSH2, MSH6, MUTYH, PMS2 MLH1 1 1 Robyn Ward
00188426 - - Patient with uterine cancer MSI-H and loss of MSH6. MGF, bladder at 75.; Father, colon at 73, prostate at 69. pat. cousin, uterine at 37. pat. uncle, prostate at 62. F - United States - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT - John-Paul Plazzer
00188429 - - Sister had endometrial cancer at 52 - not tested. Her brother had prostate cancer. NO other known family history. F - - - - 0 - - cancer, endometrial - MSH6 MSH6 1 1 Cheryl Berlin
00188521 - - Mother of proband had endometrial at 62y and colon at 67y F - United States Asian - 0 - - cancer, endometrial - MSH2, MSH6 MSH2 1 1 InSiGHT - John-Paul Plazzer
00188525 - - 58yo Asian F dx with endometrial ca at 57, MSH2 and MSH6 absent on IHC F - United States Asian - 0 - - cancer, endometrial - MSH2 MSH2 1 1 InSiGHT - John-Paul Plazzer
00188526 - - 57yo Asian F dx with endometrial ca at 46; mother transitional cell of the ureter at 76 and stomach/pancreatic at 80, brother CRC at 32. Family meets Amsterdam II criteria. F - United States Asian - 0 - - cancer, endometrial - MSH2 MSH2 1 1 InSiGHT - John-Paul Plazzer
00188527 - - 63yo Asian F w/ endometrial ca @48 and colon ca @63; mom w/ panc ca @63, pat aunt w/ breast ca, pat aunt w/ liver ca, pat aunt w/ colon ca @50s, pat uncle w/ colon ca @50s F - United States Asian - 0 - - CRC, cancer, endometrial - - MSH2 1 1 InSiGHT - John-Paul Plazzer
00188529 - - 48yo Asian F w/ endometrial vca @37 and colon ca @46; mother w/ cervicalca @48, mat aunt w/ liverca @37 F - United States Asian - 0 - - CRC, cancer, endometrial - MSH2, MSH6 MSH2 1 1 InSiGHT - John-Paul Plazzer
00188535 - - - F - United Kingdom (Great Britain) - - 0 - - CRC, cancer, endometrial - MSH6 MSH6 1 1 Joanne Field
00188537 - E39, S67 - F - Netherlands - - 0 - - CRC, cancer, endometrial , sigmoid; some polyps MSH6 MSH6 1 1 Carli Tops
00188547 - - no family history F - Germany - - 0 - - cancer, endometrial 66 y EC MLH1 MLH1 1 1 Elke Holinski-Feder
00188630 - none PMS2 deficient endometrial cancer F - - white - 0 - - cancer, endometrial - PMS2 PMS2 1 17 Sean Young
00188634 - - - F - Ireland white - 0 - - cancer, breast, cancer, endometrial - MSH2, MSH6 MSH2 1 1 Michael Peter Farrell
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
00188839 - - - ? - - - - 0 - - cancer, endometrial - MLH1 MLH1 2 1 Michael Woods
00188844 - - - ? - - - - 0 - - cancer, rectal, cancer, endometrial cancer, endometrial (42), cancer, rectal (47) MLH1 MLH1 2 1 Michael Woods
00188855 - PubMed: Hendriks 2006 - F - Netherlands - - 0 - - cancer, endometrial - MLH1, MSH6, PMS2 MLH1, MSH6, PMS2 4 1 Carli Tops
00192840 - - - ? - - - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 Michael Woods
00192897 - - - ? - - - - 0 - - cancer, cancer, endometrial cancer, ureter (77), endometrium cancer (55) MLH1 MLH1 1 1 Michael Woods
00194526 - - - F - - - - 0 - - cancer, cancer, endometrial , cancer, thyroid / parathyroid MLH1 MLH1 1 1 Amanda Spurdle
00194527 - - - F - - - - 0 - - cancer, endometrial - MLH1 MLH1 2 1 Amanda Spurdle
00194528 - - - F - - - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 Amanda Spurdle
00194529 - - - F - - - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 Amanda Spurdle
00194566 - - - F - Finland - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 Carli Tops
00194578 - - germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869; F - (Netherlands) - - 0 - - cancer, endometrial endometrial, 53y MLH1, PMS2 MLH1, PMS2 2 1 Carli Tops
00194760 - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013533; F - - - - 0 - - cancer, ovarian, CRC, cancer, endometrial , Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 INSiGHT group
00194764 - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013537; F - - - - 0 - - CRC, cancer, breast, cancer, endometrial , Breast cancer 56, Endometrial cancer 53 MLH1 MLH1 1 1 INSiGHT group
00194766 - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013539; F - - - - 0 - - cancer, breast, cancer, endometrial , Breast cancer dx 49 MLH1 MLH1 1 1 INSiGHT group
00194776 - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013549; F - - - - 0 - - cancer, ovarian, CRC, cancer, endometrial CRC Metachronous (46y, 48y), Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 INSiGHT group
00194778 - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013551; F - - - - 0 - - ?, cancer, endometrial , Polyps colon dx 41 MLH1 MLH1 1 1 INSiGHT group
00194860 - - - - - - - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 INSiGHT group
00195012 - - - - - - - - 0 - - cancer, endometrial Endometrium MLH1 MLH1 1 1 INSiGHT group
00195135 - - - - - - - - 0 - - CRC, cancer, breast, cancer, endometrial Breast58, colon58, Endom55 MLH1 MLH1 1 1 INSiGHT group
00195136 - - - - - - - - 0 - - cancer, endometrial Endom60 MLH1 MLH1 1 1 INSiGHT group
00195148 - - BRAF V600E mutation status: BRAF: no mutation; BRAF testing method: ;InSiGHT LOVDv2 ID:1016658;; Sporadic - - - - - 0 - - cancer, endometrial Poorly differentiated endometrial cancer stage 1B MLH1 MLH1 1 1 INSiGHT group
00195204 - - Last known age healthy/unknown disease: 54;InSiGHT LOVDv2 ID:1016763; F - - - - 0 - - cancer, endometrial Last known age healthy/unknown disease: 54 MLH1 MLH1 2 1 INSiGHT group
00195221 - - - - - - - - 0 - - cancer, endometrial endometrial MLH1 MLH1 1 1 INSiGHT group
00195225 - - - F - - - - 0 - - cancer, endometrial Endometrial adenocarcinoma MLH1 MLH1 1 1 INSiGHT group
00195235 - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016823; F - - - - 0 - - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 2 1 INSiGHT group
00195238 - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016826; F - - - - 0 - - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 2 1 INSiGHT group
00195251 - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016839; F - - - - 0 - - cancer, endometrial adenocarc endometrium MLH1 MLH1 1 1 INSiGHT group
00195256 - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016865; F - - - - 0 - - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 3 1 INSiGHT group
00195269 - - - - - - - - 0 - - cancer, endometrial Endometr56 MLH1 MLH1 1 1 INSiGHT group
00195353 - - - F - United States United Kingdom - 0 yes, pedigree - CRC, cancer, endometrial Colon (67y) location: Cecum; Normal IHC, Uterine (52y) MLH1 MLH1 1 1 Jamilyn Zepp
00195369 - - - F - United Kingdom (Great Britain) - - 0 - - cancer, endometrial - MLH1 MLH1 1 1 Helen Lindsay
00195370 - - MSI high on both endometrial and colorectal tumours. IHC only performed on colorectal tumour. ;InSiGHT LOVDv2 ID:1017283; F - United Kingdom (Great Britain) - - 0 additional info and pedigree - cancer, endometrial endometrial (57y) colorectal (60y) MLH1 MLH1 1 1 Helen Lindsay
00195486 - - - F - - - - 0 - - cancer, endometrial Gastric cancer dx 54 MSH2 MSH2 1 1 INSiGHT group
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