Disease #00423 (cancer, endometrial, OMIM:608089)

Official abbreviation -
Name cancer, endometrial
OMIM ID 608089
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Somatic mutation
Individuals reported having this disease 225
Phenotype entries for this disease 191
Associated with 5 genes CDH1, MLH3, MSH3, MSH6, PTEN
Associated tissues -
Disease features -
Remarks -


Individuals

225 entries on 3 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
00188477 - - - F - Spain - - 0 - - cancer, breast, CRC, cancer, endometrial - MSH2 MSH2 1 1 Gabriel Capella
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 - - cancer, breast, CRC, 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 - - cancer, breast, CRC, 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
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