Disease #00005

Official abbreviation -
Name cancer, endometrial
OMIM ID 608089
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 189
Phenotype entries for this disease 156
Associated with 2 genes MLH3, MSH3
Associated tissues -
Disease features -
Remarks -


Individuals

189 entries on 2 pages. Showing entries 1 - 100.
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00002036 InSiGHT Variant Interpretation Committee April 2016 - Australia - 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 - cancer, endometrial - MSH2, MSH6 MSH6 1 1 John Paul Plazzer
00002076 - F - - InSiGHT LOVDv2 ID:1008502; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00002087 - F ES - InSiGHT LOVDv2 ID:1017142; This data has been transferred from InSiGHT LOVDv2 database. - B+; - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 José Luis Soto
00002176 Hampel et al., 2006 F - - InSiGHT LOVDv2 ID:1017165; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 John Paul Plazzer
00002205 - F US WHITE BRITISH Mother CRC at 77 -no tumour or germline testing Mat aunt EC at 58 - MSH6-, no germline testing; InSiGHT LOVDv2 ID:1017166; This data has been transferred from InSiGHT LOVDv2 database. - AI+; Chance cancer, endometrial Additional info: yes; clear cell ovarian (46yr) and endometrioid endometrial (46yrs) Pedigree available: yes; MSH6 MSH6 1 1 Helen Hanson
00002235 - F - - InSiGHT LOVDv2 ID:15491; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002267 - F - - InSiGHT LOVDv2 ID:1016710; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00002427 - F - - InSiGHT LOVDv2 ID:15497; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002436 - F - - InSiGHT LOVDv2 ID:1016866; This data has been transferred from InSiGHT LOVDv2 database. - AMS-; - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 2 1 InSiGHT group
00002465 - F - - InSiGHT LOVDv2 ID:15498; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002535 - F - - InSiGHT LOVDv2 ID:1016859; This data has been transferred from InSiGHT LOVDv2 database. - AMS-; - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 1 1 InSiGHT group
00002550 - F - - InSiGHT LOVDv2 ID:15492; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 2 1 Michael Woods
00002569 - F (ES) - InSiGHT LOVDv2 ID:1017259; This data has been transferred from InSiGHT LOVDv2 database. - - Colorectal symptoms cancer, endometrial, cancer, rectal , Additional info: yes; Pedigree available: yes; MSH6 MSH6 1 1 sira moreno
00002621 - F UK - Brother CRC 66y with abnormal MSH6 expression, but variant and MSI status unknown.; InSiGHT LOVDv2 ID:1017161; This data has been transferred from InSiGHT LOVDv2 database. - AII-; - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00002622 - F UK - One of 3 identical triplets, who have also developed endometrial cancer at ages 51 and 52.; InSiGHT LOVDv2 ID:1017162; This data has been transferred from InSiGHT LOVDv2 database. - A?; - cancer, endometrial Additional info: no; Pedigree available: yes; MSH6 MSH6 1 1 Ian Frayling
00002629 - F - - InSiGHT LOVDv2 ID:15493; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002641 - F (NL) - InSiGHT LOVDv2 ID:1012060; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial Additional info: yes Pedigree available: yes; MSH6 MSH6 1 1 Amie Blanco
00002648 - F CU Hispanic InSiGHT LOVDv2 ID:1017237; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial Pedigree available: yes; MSH6 MSH6 1 1 Rachel Silva-Smith
00002677 - F - - InSiGHT LOVDv2 ID:15494; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002714 - F - - InSiGHT LOVDv2 ID:1016856; This data has been transferred from InSiGHT LOVDv2 database. - AMS-; - cancer, endometrial Additional info: adenocarc endometrium; MSH6 MSH6 1 1 InSiGHT group
00002717 - - - - InSiGHT LOVDv2 ID:1016992; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 sira moreno
00002750 - F - - InSiGHT LOVDv2 ID:1008504; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 3 1 Amanda Spurdle
00002762 - F - - this patient had two other tumors (breast and pancreatic cancer); InSiGHT LOVDv2 ID:1008483; This data has been transferred from InSiGHT LOVDv2 database. - AII+; - cancer, endometrial - MSH6 MSH6 1 1 Felipe Silva
00002765 - F UK - Brother with mutliple colorectal polyps (untested); InSiGHT LOVDv2 ID:1017208; This data has been transferred from InSiGHT LOVDv2 database. - - Unknown cancer, endometrial Additional info: grade 2 endometrioid adenocarcinoma Pedigree available: yes; MSH6 MSH6 2 1 Matilda Bradford
00002773 - F - - InSiGHT LOVDv2 ID:1016090; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00002877 - F - - InSiGHT LOVDv2 ID:1008505; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 2 1 Amanda Spurdle
00002930 - F - - InSiGHT LOVDv2 ID:15495; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00002951 - F - - InSiGHT LOVDv2 ID:1010888; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Carli Tops
00002966 - F - - InSiGHT LOVDv2 ID:15499; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003019 - F ES - InSiGHT LOVDv2 ID:1012053; This data has been transferred from InSiGHT LOVDv2 database. - AII+; - cancer, endometrial - MSH6 MSH6 1 1 Daniel Rueda
00003148 - F - - InSiGHT LOVDv2 ID:15500; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003150 - F AU - InSiGHT LOVDv2 ID:12647; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003153 - - - - InSiGHT LOVDv2 ID:1017218; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Anne Jansen
00003197 - F - - InSiGHT LOVDv2 ID:1008506; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 2 1 Amanda Spurdle
00003212 - F - - InSiGHT LOVDv2 ID:15501; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003276 - F - - InSiGHT LOVDv2 ID:15502; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003286 - F - - InSiGHT LOVDv2 ID:1008507; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003300 - F - - InSiGHT LOVDv2 ID:15496; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003311 - F - - InSiGHT LOVDv2 ID:1008508; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003312 - F - - InSiGHT LOVDv2 ID:1008509; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003313 - F - - InSiGHT LOVDv2 ID:1008510; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003363 - M CA French Canadian 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; This data has been transferred from InSiGHT LOVDv2 database. - AII+; - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003380 - F - - InSiGHT LOVDv2 ID:15503; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Michael Woods
00003398 - F AU - InSiGHT LOVDv2 ID:12648; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00003409 - F - - InSiGHT LOVDv2 ID:15504; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial Additional info: cancer, endometrial; MSH6 MSH6 1 1 Michael Woods
00003448 - - - - InSiGHT LOVDv2 ID:1016930; This data has been transferred from InSiGHT LOVDv2 database. - Uterus49 - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00003449 - - - - InSiGHT LOVDv2 ID:1016931; This data has been transferred from InSiGHT LOVDv2 database. - Endomet56 - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00003450 - - - - InSiGHT LOVDv2 ID:1016932; This data has been transferred from InSiGHT LOVDv2 database. - Endomet56 - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00003462 - F - - InSiGHT LOVDv2 ID:1016651; This data has been transferred from InSiGHT LOVDv2 database. - - - ?, cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00003480 - - - - InSiGHT LOVDv2 ID:1016224; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 InSiGHT group
00003509 Ward et al. (2013) F United States Caucasian - - Unknown MSI and MLH1- CRC, cancer, endometrial cecum, 2x uterus (64y,66y,66y) MLH1, MSH2, MSH6, MUTYH, PMS2 MLH1 1 1 Robyn Ward
00003521 - F United States - 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. - cancer, endometrial - MSH6 MSH6 1 1 John Paul Plazzer
00003524 - F - - - - Sister had endometrial cancer at 52 - not tested. Her brother had prostate cancer. NO other known family history. - cancer, endometrial - MSH6 MSH6 1 1 Cheryl Berlin
00003617 - F United States Asian - - Mother of proband had endometrial at 62y and colon at 67y - cancer, endometrial - MSH2, MSH6 MSH2 1 1 John Paul Plazzer
00003621 - F United States Asian 58yo Asian F dx with endometrial ca at 57, MSH2 and MSH6 absent on IHC - - - cancer, endometrial - MSH2 MSH2 1 1 John Paul Plazzer
00003622 - F United States Asian 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. - cancer, endometrial - MSH2 MSH2 1 1 John Paul Plazzer
00003623 - F United States Asian 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 - CRC, cancer, endometrial - - MSH2 1 1 John Paul Plazzer
00003625 - F United States Asian 48yo Asian F w/ endometrial vca @37 and colon ca @46 - mother w/ "cervical" ca @48, mat aunt w/ "liver" ca @37 - CRC, cancer, endometrial - MSH2, MSH6 MSH2 1 1 John Paul Plazzer
00003632 - F UK - - - - - CRC, cancer, endometrial - MSH6 MSH6 1 1 Joanne Field
00003634 E39, S67 F NL - - - - - CRC, cancer, endometrial , sigmoid; some polyps MSH6 MSH6 1 1 Carli Tops
00003645 - F Germany - - - no - cancer, endometrial 66 y EC MLH1 MLH1 1 1 Elke Holinski-Feder
00003772 none F unknown Caucasian PMS2 deficient endometrial cancer - - - cancer, endometrial - PMS2 PMS2 1 17 Sean Young
00003776 - F Irish Caucasian - - Bethesda MSI cancer, breast, cancer, endometrial - MSH2, MSH6 MSH2 1 1 Michael Farrell
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
00016279 - ? - - InSiGHT LOVDv2 ID:139; - - - cancer, endometrial - MLH1 MLH1 2 1 Michael Woods
00016284 - ? - - InSiGHT LOVDv2 ID:146; - - - cancer, endometrial, cancer, rectal cancer, endometrial (42), cancer, rectal (47) MLH1 MLH1 2 1 Michael Woods
00016295 Hendriks et al, 2006 F NL - InSiGHT LOVDv2 ID:5110; - - - cancer, endometrial - MLH1, MSH6, PMS2 MLH1, MSH6, PMS2 4 1 Carli Tops
00020304 - ? - - InSiGHT LOVDv2 ID:1006467; - - - cancer, endometrial - MLH1 MLH1 1 1 Michael Woods
00020361 - ? - - InSiGHT LOVDv2 ID:1006526; - - - cancer, cancer, endometrial cancer, ureter (77), endometrium cancer (55) MLH1 MLH1 1 1 Michael Woods
00021997 - F - - InSiGHT LOVDv2 ID:1008489; - - - cancer, cancer, endometrial , cancer, thyroid / parathyroid MLH1 MLH1 1 1 Amanda Spurdle
00021998 - F - - InSiGHT LOVDv2 ID:1008490; - - - cancer, endometrial - MLH1 MLH1 2 1 Amanda Spurdle
00021999 - F - - InSiGHT LOVDv2 ID:1008491; - - - cancer, endometrial - MLH1 MLH1 1 1 Amanda Spurdle
00022000 - F - - InSiGHT LOVDv2 ID:1008492; - - - cancer, endometrial - MLH1 MLH1 1 1 Amanda Spurdle
00022037 - F FI - InSiGHT LOVDv2 ID:1012051; - - - cancer, endometrial - MLH1 MLH1 1 1 Carli Tops
00022049 - F (NL) - germline PMS2 c.736_741del6ins11 and MLH1 c.2146G>A (p.Val716Met);InSiGHT LOVDv2 ID:1012869; - - - cancer, endometrial endometrial, 53y MLH1, PMS2 MLH1, PMS2 2 1 Carli Tops
00022232 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013533; - Bethesda - CRC, cancer, endometrial, cancer, ovarian , Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 InSiGHT group
00022236 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013537; - Bethesda - CRC, cancer, breast, cancer, endometrial , Breast cancer 56, Endometrial cancer 53 MLH1 MLH1 1 1 InSiGHT group
00022238 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013539; - AM II - cancer, breast, cancer, endometrial , Breast cancer dx 49 MLH1 MLH1 1 1 InSiGHT group
00022248 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013549; - Bethesda - CRC, cancer, endometrial, cancer, ovarian CRC Metachronous (46y, 48y), Endometrial and Ovarian cancer dx 47 MLH1 MLH1 1 1 InSiGHT group
00022250 - F - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013551; - AM II - polyps, cancer, endometrial , Polyps colon dx 41 MLH1 MLH1 1 1 InSiGHT group
00022332 - - - - InSiGHT LOVDv2 ID:1013833; - B - cancer, endometrial - MLH1 MLH1 1 1 InSiGHT group
00022484 - - - - InSiGHT LOVDv2 ID:1016278; - - - cancer, endometrial Endometrium MLH1 MLH1 1 1 InSiGHT group
00022607 - - - - InSiGHT LOVDv2 ID:1016608; - - - CRC, cancer, breast, cancer, endometrial Breast58, colon58, Endom55 MLH1 MLH1 1 1 InSiGHT group
00022608 - - - - InSiGHT LOVDv2 ID:1016609; - - - cancer, endometrial Endom60 MLH1 MLH1 1 1 InSiGHT group
00022620 - - - - BRAF V600E mutation status: BRAF: no mutation; BRAF testing method: ;InSiGHT LOVDv2 ID:1016658; - Sporadic - cancer, endometrial Poorly differentiated endometrial cancer stage 1B MLH1 MLH1 1 1 InSiGHT group
00022676 - F - - Last known age healthy/unknown disease: 54;InSiGHT LOVDv2 ID:1016763; - AMII - cancer, endometrial Last known age healthy/unknown disease: 54 MLH1 MLH1 2 1 InSiGHT group
00022693 - - - - InSiGHT LOVDv2 ID:1016789; - Amsterdam - cancer, endometrial endometrial MLH1 MLH1 1 1 InSiGHT group
00022697 - F - - InSiGHT LOVDv2 ID:1016813; - Am I - cancer, endometrial Endometrial adenocarcinoma MLH1 MLH1 1 1 InSiGHT group
00022707 - F - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016823; - AMS+ endom - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 2 1 InSiGHT group
00022710 - F - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016826; - AMS+ - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 2 1 InSiGHT group
00022723 - F - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016839; - - - cancer, endometrial adenocarc endometrium MLH1 MLH1 1 1 InSiGHT group
00022728 - F - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016865; - AMS+ endom - cancer, endometrial adenocarc endometrium MLH1, MSH6 MLH1, MSH6 3 1 InSiGHT group
00022742 - - - - InSiGHT LOVDv2 ID:1016898; - - - cancer, endometrial Endometr56 MLH1 MLH1 1 1 InSiGHT group
00022827 - F US United Kingdom InSiGHT LOVDv2 ID:1017200; Yes A+; Additional info: yes; Pedigree available: yes; - CRC, cancer, endometrial Colon (67y) location: Cecum; Normal IHC, Uterine (52y) MLH1 MLH1 1 1 Jamilyn Zepp
00022843 - F UK - InSiGHT LOVDv2 ID:1017281; - - - cancer, endometrial - MLH1 MLH1 1 1 Helen Lindsay
00022844 - F UK - MSI high on both endometrial and colorectal tumours. IHC only performed on colorectal tumour. ;InSiGHT LOVDv2 ID:1017283; Yes B+; Additional info: yes; Pedigree available: yes; - cancer, endometrial endometrial (57y) colorectal (60y) MLH1 MLH1 1 1 Helen Lindsay
00022961 - F - - InSiGHT LOVDv2 ID:1013583; - Bethesda - cancer, endometrial Gastric cancer dx 54 MSH2 MSH2 1 1 InSiGHT group
00022970 - - - - InSiGHT LOVDv2 ID:1016793; - Amsterdam - cancer, endometrial endometrial MSH2 MSH2 1 1 InSiGHT group
00022972 - F ES - InSiGHT LOVDv2 ID:1017140; Yes B+ - cancer, endometrial - MSH2 MSH2 1 1 José Luis Soto
00023144 - F - - InSiGHT LOVDv2 ID:1008493; - - - cancer, endometrial - MSH2 MSH2 1 1 Amanda Spurdle
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