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21823 entries on 219 pages. Showing entries 1 - 100.
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00000219 - - - - This data has been transferred from InSiGHT LOVDv2 database. - - - ? - - - 0 1 John Paul Plazzer
00000220 - - - - This data has been transferred from InSiGHT LOVDv2 database - - - CRC - - - 0 1 John Paul Plazzer
00001847 - M - - - - 2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II) CRC Lynch Syndrome Adenocarcinoma MLH1 MLH1 1 1 Ruth Armstrong
00001848 - F - - - - 2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II) Breast+CRC Lynch Syndrome Bowel Cancer; Breast-63y; Colon 66y MLH1, MSH2, MSH6 MLH1 1 1 Ruth Armstrong
00001849 - F - - - - 2 gen; 1xEndometrial 61;1 case CRC@64 Endometrial Lynch Syndrome Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00001850 - F - - - - No FH of CRC Endometrial tumour Lynch Syndrome Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal MSH6 MSH6 1 1 Ruth Armstrong
00001851 - M - - - - 3 gen & 6 cases of CRC( Amsterdam II) CRC Lynch Syndrome Adenocarcinoma MSH6 MSH6 2 1 Ruth Armstrong
00001852 - M - - - - 2 Gen(not sucessive); 1x CRC@51;1xStomach Ca@53 CRC Lynch Syndrome Sigmoid mucinous adenocarcinoma, 3xTVA, MSH2 protein expression: weak MSH2, MSH6 MSH2, MSH6 2 1 Ruth Armstrong
00001853 - F - - - - 2 Gen;2 cases CRC 58,42;2xbowel polyps. CRC Lynch Syndrome Transverse Colon adenocarcinoma, >=35 pol MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00001854 - F - - - - 2 Gen; 2 cases CRC 55,48;1 case endometrial 71 (Amsterdam II) CRC Lynch Syndrome Rectal Adenocarcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00001855 - F - - - - 2 Gen ;2casesCRC 18,66 CRC Lynch Syndrome Ascending colon adenocarcinoma MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00001856 - F UK - - - Mother caecal cancer (untested) at 34y CRC Lynch Syndrome Caecal Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001857 - F - - - - 2 Gen; 3 Cases CRC 47,75,76 (Amsterdam Criteria II) CRC Lynch Syndrome Ascending Colon adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001858 - F - - - - 1 Case , sebaceous adenoma Sebaceous adenoma Lynch Syndrome Sebaceous adenoma, 1 dysplastic polyp MSH2 MSH2 1 1 Ruth Armstrong
00001859 - F - - - - 2 Gen;?2 sides of family?;3 Cases CRC 39,54,89; CRC Lynch Syndrome Sigmoid Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001860 - M - - - - 4 Gen; 6 cases CRC 39,42,35,58,42,78, 1 case Womb Ca 58, 1 Case Stomach Ca 65 (Amsterdam II) CRC Lynch Syndrome Ascending Colon Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001861 - M - - - - 4 Gen; 6 cases CRC 39,42,35,58,42,78, 1 case Womb Ca 58, 1 Case Stomach Ca 65 (Amsterdam II) CRC - Two Primary Colorectal Adenocarcinoma MLH1 MLH1 1 1 John Paul Plazzer
00001862 - M - - - - 2 Gen;3 Cases CRC 40,45,70 (Amsterdam II Criteria) CRC Lynch Syndrome Rectal Adenocarcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001863 - F - - - - 3 Gen; 3 Case CRC 54,30,?60's?; 1 Case Endometriod Ca 46; (Amsterdam II) Endometrial Ca Lynch Syndrome Endometriod Carcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001864 - F - - - - 3 Gen;4 case CRC 77,75,39,60; 1 case stomach Ca 63 (Amsterdam II) CRC Lynch Syndrome Bowel Cancer MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001865 - F - - - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) CRC - Colorectal carcinoma MLH1, MSH2 MLH1 2 1 Ruth Armstrong
00001866 - F - - - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) CRC + Endometrial Ca Lynch Syndrome Colorectal Carcinoma-30y;Endometrial Ca-51y MLH1, MSH2 MLH1 2 1 Ruth Armstrong
00001867 - F - - - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) 2 Mod dys TVAs Lynch Syndrome 2 Adenomas MLH1 - 0 1 Ruth Armstrong
00001868 - F - - - - 2 Gen; 4 Cases CRC 50,62,62,68; 1 Case breast Ca 30 CRC Lynch Syndrome Rectal Carcinoma MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001869 - M - - Tumour studies done in sister (deceased) - 3 Gen; 3 Cases CRC 31,55,?70's? (Amsterdam II) Family History +TVA Lynch Syndrome Sigmoid mucinous adenocarcinoma MLH1, MSH2 MSH2 1 1 Ruth Armstrong
00001870 - F - - - - 4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II) CRC Lynch Syndrome CRC MLH1, MSH2 MLH1 1 1 Ruth Armstrong
00001871 - F - - - - 4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II) FH + CRC Lynch Syndrome 2 separate CRC-63y,64y MLH1 MLH1 1 1 Ruth Armstrong
00001872 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) CRC Lynch Syndrome Right Colon Adenocarcinoma MLH1 MLH1 1 1 Ruth Armstrong
00001873 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) FH Lynch Syndrome No tumour/not symptomatic MLH1 MLH1 1 1 Ruth Armstrong
00001874 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) CRC Lynch Syndrome Colorectal Carcinoma MLH1 MLH1 1 1 Ruth Armstrong
00001875 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) FH Lynch Syndrome No tumour/not symptomatic - MLH1 1 1 Ruth Armstrong
00001876 - M - - - - mother with melanoma @63 yr Hepatobillary cancer, leuk and sebaceous tumour Lynch Syndrome Sebaceous tumour MLH1, MSH2, MSH6 MSH6 1 1 Ruth Armstrong
00001877 Liu 2001, Nicolaides 1994, Nicolaides 1994 F - - 4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers - A+ - Lynch Syndrome HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y MSH2 MSH2 1 2 John-Paul Plazzer
00001878 Liu 2001 M - - nephew of CW (III4) - - - Lynch Syndrome colorectal cancer 42y MSH2 MSH2 1 1 Johan den Dunnen
00001879 - F - - - - Amsterdam I; pedigree provided. family history CRC, Lynch Syndrome CRC; Unspecified Gynecological Cancer. 21y and 50y; MLH1, MSH2 MLH1 1 1 John Paul Plazzer
00001880 InSiGHT Variant Interpretation Committee April 2016 M - - - - Amsterdam I; pedigree provided family history CRC, Lynch Syndrome crc MLH1, MSH2, MSH6 MLH1 1 1 John Paul Plazzer
00001881 - - - - - - First cousin once removed with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MLH1 1 1 Bryony A Thompson
00001882 - - - - - - Second cousin with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MLH1 1 1 Bryony A Thompson
00001883 - - - - - - Second cousin with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MLH1 1 1 Bryony A Thompson
00001884 - - - - - - First cousin once removed with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2, MSH6 2 1 Bryony A Thompson
00001885 - - - - - - First cousin with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Bryony A Thompson
00001886 - - - - - - First cousin with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Bryony A Thompson
00001887 - - - - - - Second degree relative with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Bryony A Thompson
00001888 - - - - - - Half-second cousin with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Bryony A Thompson
00001889 - - - - - - Half first cousin once removed with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Bryony A Thompson
00001890 - - - - - - Second degree relative with CRC Family history CRC - MLH1, MSH2, MSH6, PMS2 MSH6 1 1 Bryony A Thompson
00001892 Chika et al, 2015 M Japan - Gan To Kagaku Ryoho. 2015 Nov;42(12):2211-4. [A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation]. [Article in Japanese] - From abstract: He had family history of endometrial cancer and gastric cancer(mother), and bladder cancer(father). The Patient met revised Bethesda guidelines. The same MSH6 variant was detected in younger brother. positive fecal occult blood test Lynch Syndrome Sigmoid Cancer MSH6 MSH6 1 1 John Paul Plazzer
00001893 - M Australia - - - He has 3 sisters and a brother; one sister had a choroidal melanoma of the eye at 50. He reports a paternal aunt with breast cancer at an older age. His mother had a melanoma at 80y, he believes her brother may have had a prostate cancer later in life, and a maternal aunt with ovarian serous cystadenocarcinoma in her 70's. - Lynch Syndrome moderately differentiated adenocarcinoma of the rectum at age 50 MLH1, MSH2, MSH6, PMS2 MSH6 1 1 John Paul Plazzer
00001894 - - - - This data has been transferred from InSiGHT LOVDv2 database - - - ? - - - 0 1 John Paul Plazzer
00001895 - - - - This data has been transferred from InSiGHT LOVDv2 database - - - CRC - - - 0 1 John Paul Plazzer
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
00002037 - M Australia - both parents deceased; mother had an ovarian tumour (serous cystadenoma) but we weren't able to amplify enough DNA to determine if she had the variant. - Bethesda Personal history CRC colorectal carcinoma (acsending colon), colorectal carcinoma (rectum) MLH1 MLH1 1 1 John Paul Plazzer
00002038 - - - - 45 y recurrent 1-2 large tub-vill. Adenomas, no IHC possible. A+ Family: mother 50 y CC, 60 y Rezidiv dedeased, maternal half-uncle 30-40 y CC verstorben, maternal grandmother 60 y CC - A+ - Lynch Syndrome - MLH1 MLH1 1 1 Elke Holinski-Feder
00002039 - - - - no MSA, IHC MLH1 pos., MSH2 pos. MSH6 pos., PMS2 neg. 46 y CC. asc. T3 N1 - father 38 y gastic Ca, 43 y deceased in accident, paternal uncle died at 70 y Pankreatic Ca - Lynch Syndrome - MLH1 MLH1 1 1 Elke Holinski-Feder
00002040 - - - - 76 y Urothelca, MSS, IHC positive in MLH1, MSH2, MLH6, PMS2 n.a. - Amsterdam-old family - Lynch Syndrome - MSH2 MSH2 1 1 Elke Holinski-Feder
00002041 InSiGHT Variant Interpretation Committee April 2016 - - - 72 y Polyposis left Colon - - - polyposis - MSH2 MSH2 1 1 Elke Holinski-Feder
00002042 - - - - Suspect of Lynch-Syndrome, Amsterdam positive, index 87297 healthy, mother (MGZ# 3487) CC at 68 y, brother CC 42 y, maternal grandfather gastric cancer, Genes MLH1, MSH2, and PMS2 normal. - Amsterdam positive - Lynch Syndrome - MSH6 MSH6 1 1 Elke Holinski-Feder
00002043 - - - - 32 y died from gastric cancer, CDH1 normal gastric-Ca: MSI-low (1 of 5, D17S250;) IHC predominant loss of PMS2, MLH1, MSH2, MSH6 positive ; second pathology: MSI-high (5 of 10), IHC no clear result obtainable for PMS2 expression - - - cancer, gastric - PMS2 PMS2 1 1 Elke Holinski-Feder
00002044 InSiGHT Variant Interpretation Committee April 2016 - - - index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y). - - - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002045 InSiGHT Variant Interpretation Committee April 2016 - - - suspect of hered. Mamma- and Ovarial Ca, eventually somatic BRCA-Mutations detected? MammaCa 37 y - family history not informative. - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002046 InSiGHT Variant Interpretation Committee April 2016 - - - MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC - - - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002047 - - - - No tumour testing has been done. - - - Lynch Syndrome - MSH2 MSH2 1 1 Ian Frayling
00002048 InSiGHT Variant Interpretation Committee April 2016 - - - patient with multiple sebaceous adenomas, carcinomas and keratoacanthomas (Muir-Torre phenotype), apparently no history of internal organ tumors in the family (he will soon undergo surgery for a liver tumor, at the age of 80 years). MSI/IHC not done - no family history - cancer - MSH2 MSH2 1 1 MAURIZIO GENUARDI
00002049 InSiGHT Variant Interpretation Committee April 2016 - - - IHC loss of MSH2 and MSH6, MLH1 + PMS2 pos and MSI-H tu index: [C18.6 (51)], [C67 (51)], [C66 (51)], [C65 (51)], [C18.0 (52)] no further variants VUS in MSH2 - Amsterdam 1 positive, 3 additional members with CC at age 46y, 52y and ?y - Lynch Syndrome Malignant neoplasm of bladder (C67), Malignant neoplasm of cecum (C18.0), Malignant neoplasm of descending colon (C18.6), Malignant neoplasm of renal pelvis (C65), Malignant neoplasm of ureter (C66) MSH2 MSH2 1 1 Elke Holinski-Feder
00002050 InSiGHT Variant Interpretation Committee April 2016 - - - MSA not performed, IHC >1-10% for MSH2 + MSH6, >10%/positive for MLH1 + PMS2 - Bethesda 1 positive - Lynch Syndrome Malignant neoplasm of cecum (C18.0) MSH2 MSH2 1 1 Elke Holinski-Feder
00002051 - - - - InSiGHT LOVDv2 ID:1017072; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002052 - - - - InSiGHT LOVDv2 ID:1017073; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002053 - - - - InSiGHT LOVDv2 ID:1017074; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002054 - - - - InSiGHT LOVDv2 ID:1017075; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002055 - - - - InSiGHT LOVDv2 ID:1017076; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002056 - - - - InSiGHT LOVDv2 ID:1017077; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002057 - - - - InSiGHT LOVDv2 ID:1017078; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002058 - - - - InSiGHT LOVDv2 ID:1017079; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002059 - - - - InSiGHT LOVDv2 ID:1017080; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002060 - - - - InSiGHT LOVDv2 ID:1017081; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002061 - - - - InSiGHT LOVDv2 ID:1017082; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002062 - - - - InSiGHT LOVDv2 ID:1017083; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002063 - - - - InSiGHT LOVDv2 ID:1017084; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002064 - - - - InSiGHT LOVDv2 ID:1017085; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002065 - - - - InSiGHT LOVDv2 ID:1017087; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002066 - - - - InSiGHT LOVDv2 ID:1017088; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002067 - - - - InSiGHT LOVDv2 ID:1017086; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002068 - - - - InSiGHT LOVDv2 ID:1017089; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002069 - - - - InSiGHT LOVDv2 ID:1017090; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002070 - - - - InSiGHT LOVDv2 ID:1017091; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002071 van der,Klift H. et al, 2005 ? NL - InSiGHT LOVDv2 ID:351; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 2 1 Carli Tops
00002072 - ? - - InSiGHT LOVDv2 ID:20706; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
00002073 - ? - - InSiGHT LOVDv2 ID:20707; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
00002075 - ? - - InSiGHT LOVDv2 ID:20720; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
00002076 - F - - InSiGHT LOVDv2 ID:1008502; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - MSH6 MSH6 1 1 Amanda Spurdle
00002077 - ? - - InSiGHT LOVDv2 ID:20721; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
00002078 - ? - - InSiGHT LOVDv2 ID:20722; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
00002079 - - - - InSiGHT LOVDv2 ID:1015828; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - ? - MSH6 MSH6 1 1 InSiGHT group
00002080 - M - - InSiGHT LOVDv2 ID:1016649; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda ; - CRC - MSH6 MSH6 1 1 InSiGHT group
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
00002088 - ? - - InSiGHT LOVDv2 ID:16055; This data has been transferred from InSiGHT LOVDv2 database. - - - in silico AA seqs MSH6 in human, mouse, zebrafish and yeast were used for the alignement MSH6 MSH6 1 1 Rolf Sijmons
00002089 - ? - - InSiGHT LOVDv2 ID:20747; This data has been transferred from InSiGHT LOVDv2 database. - AII-;B?; - Lynch Syndrome - MSH6 MSH6 1 1 Michael Woods
00002090 - ? - - InSiGHT LOVDv2 ID:25527; This data has been transferred from InSiGHT LOVDv2 database. - - - in silico - MSH6 MSH6 1 1 Rolf Sijmons
00002091 - ? - - InSiGHT LOVDv2 ID:25537; This data has been transferred from InSiGHT LOVDv2 database. - - - in silico - MSH6 MSH6 1 1 Rolf Sijmons
00002092 - ? - - InSiGHT LOVDv2 ID:20749; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - MSH6 MSH6 1 1 Michael Woods
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