All individuals with variants in gene MSH6

1979 entries on 20 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00001849 - F - - - - 2 gen; 1xEndometrial 61;1 case CRC@64 Endometrial Lynch Syndrome Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma 1 1 Ruth Armstrong
00001850 - F - - - - No FH of CRC Endometrial tumour Lynch Syndrome Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal 1 1 Ruth Armstrong
00001851 - M - - - - 3 gen & 6 cases of CRC( Amsterdam II) CRC Lynch Syndrome Adenocarcinoma 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 1 1 Ruth Armstrong
00001853 - F - - - - 2 Gen;2 cases CRC 58,42;2xbowel polyps. CRC Lynch Syndrome Transverse Colon adenocarcinoma, >=35 pol 1 1 Ruth Armstrong
00001854 - F - - - - 2 Gen; 2 cases CRC 55,48;1 case endometrial 71 (Amsterdam II) CRC Lynch Syndrome Rectal Adenocarcinoma 1 1 Ruth Armstrong
00001855 - F - - - - 2 Gen ;2casesCRC 18,66 CRC Lynch Syndrome Ascending colon adenocarcinoma 1 1 Ruth Armstrong
00001876 - M - - - - mother with melanoma @63 yr Hepatobillary cancer, leuk and sebaceous tumour Lynch Syndrome Sebaceous tumour 1 1 Ruth Armstrong
00001884 - - - - - - First cousin once removed with CRC Family history CRC - 1 1 Bryony A Thompson
00001890 - - - - - - Second degree relative with CRC Family history CRC - 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 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 1 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 - 1 1 John Paul Plazzer
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 - 1 1 Elke Holinski-Feder
00002051 - - - - InSiGHT LOVDv2 ID:1017072; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002052 - - - - InSiGHT LOVDv2 ID:1017073; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002053 - - - - InSiGHT LOVDv2 ID:1017074; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002054 - - - - InSiGHT LOVDv2 ID:1017075; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002055 - - - - InSiGHT LOVDv2 ID:1017076; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002056 - - - - InSiGHT LOVDv2 ID:1017077; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002057 - - - - InSiGHT LOVDv2 ID:1017078; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002058 - - - - InSiGHT LOVDv2 ID:1017079; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002059 - - - - InSiGHT LOVDv2 ID:1017080; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002060 - - - - InSiGHT LOVDv2 ID:1017081; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002061 - - - - InSiGHT LOVDv2 ID:1017082; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002062 - - - - InSiGHT LOVDv2 ID:1017083; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002063 - - - - InSiGHT LOVDv2 ID:1017084; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002064 - - - - InSiGHT LOVDv2 ID:1017085; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002065 - - - - InSiGHT LOVDv2 ID:1017087; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002066 - - - - InSiGHT LOVDv2 ID:1017088; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002067 - - - - InSiGHT LOVDv2 ID:1017086; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002068 - - - - InSiGHT LOVDv2 ID:1017089; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002069 - - - - InSiGHT LOVDv2 ID:1017090; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 1 1 InSiGHT group
00002070 - - - - InSiGHT LOVDv2 ID:1017091; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - 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. - - - ? - 2 1 Carli Tops
00002072 - ? - - InSiGHT LOVDv2 ID:20706; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002073 - ? - - InSiGHT LOVDv2 ID:20707; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002075 - ? - - InSiGHT LOVDv2 ID:20720; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002076 - F - - InSiGHT LOVDv2 ID:1008502; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, endometrial - 1 1 Amanda Spurdle
00002077 - ? - - InSiGHT LOVDv2 ID:20721; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002078 - ? - - InSiGHT LOVDv2 ID:20722; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002079 - - - - InSiGHT LOVDv2 ID:1015828; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - ? - 1 1 InSiGHT group
00002080 - M - - InSiGHT LOVDv2 ID:1016649; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda ; - CRC - 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; 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 1 1 Rolf Sijmons
00002089 - ? - - InSiGHT LOVDv2 ID:20747; This data has been transferred from InSiGHT LOVDv2 database. - AII-;B?; - Lynch Syndrome - 1 1 Michael Woods
00002090 - ? - - InSiGHT LOVDv2 ID:25527; This data has been transferred from InSiGHT LOVDv2 database. - - - in silico - 1 1 Rolf Sijmons
00002091 - ? - - InSiGHT LOVDv2 ID:25537; This data has been transferred from InSiGHT LOVDv2 database. - - - in silico - 1 1 Rolf Sijmons
00002092 - ? - - InSiGHT LOVDv2 ID:20749; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002093 - ? - - InSiGHT LOVDv2 ID:20750; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002094 - ? - - InSiGHT LOVDv2 ID:20751; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002095 - ? - - InSiGHT LOVDv2 ID:20752; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002096 - - Netherlands - InSiGHT LOVDv2 ID:41112; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Ans van den Ouweland
00002097 - - Netherlands - InSiGHT LOVDv2 ID:41113; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Ans van den Ouweland
00002098 - - Netherlands - InSiGHT LOVDv2 ID:41114; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Johan JP Gille
00002099 Nicolaides et al, 1996 ? - - InSiGHT LOVDv2 ID:11619; This data has been transferred from InSiGHT LOVDv2 database. - A?; - ? - 1 1 InSiGHT group
00002101 - ? - - InSiGHT LOVDv2 ID:105; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 2 1 Michael Woods
00002102 - ? - - InSiGHT LOVDv2 ID:106; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 2 1 Michael Woods
00002104 - ? DE - InSiGHT LOVDv2 ID:11098; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 2 1 Prof. Dr. med. Peter Propping
00002107 - ? DE - InSiGHT LOVDv2 ID:11252; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 3 1 Prof. Dr. med. Peter Propping
00002108 Kolodner et al, 1999 ? - - healthy controls; InSiGHT LOVDv2 ID:11621; This data has been transferred from InSiGHT LOVDv2 database. - A?; - ? - 1 1 InSiGHT group
00002109 Plaschke et al, 2000 ? - - healthy donors; InSiGHT LOVDv2 ID:11622; This data has been transferred from InSiGHT LOVDv2 database. - A?; - ? - 1 1 InSiGHT group
00002110 Nicolaides et al, 1996 ? - - InSiGHT LOVDv2 ID:11623; This data has been transferred from InSiGHT LOVDv2 database. - A?; - ? - 1 1 InSiGHT group
00002111 - ? - - InSiGHT LOVDv2 ID:20715; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002112 - ? - - InSiGHT LOVDv2 ID:20716; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002113 - ? - - InSiGHT LOVDv2 ID:20717; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002114 - ? - - InSiGHT LOVDv2 ID:20718; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002115 - ? - - InSiGHT LOVDv2 ID:20723; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002116 - ? - - InSiGHT LOVDv2 ID:20724; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002117 - ? - - InSiGHT LOVDv2 ID:20725; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002118 - ? - - InSiGHT LOVDv2 ID:20726; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002119 - ? - - InSiGHT LOVDv2 ID:20727; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002120 - ? - - InSiGHT LOVDv2 ID:20728; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002121 - ? - - InSiGHT LOVDv2 ID:20729; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002122 - ? - - InSiGHT LOVDv2 ID:20730; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002123 - ? - - InSiGHT LOVDv2 ID:20731; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002124 - ? - - InSiGHT LOVDv2 ID:20732; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002125 - ? - - InSiGHT LOVDv2 ID:20733; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002126 - ? - - InSiGHT LOVDv2 ID:20734; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002127 - ? - - InSiGHT LOVDv2 ID:20735; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002128 - ? - - InSiGHT LOVDv2 ID:20736; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002129 - ? - - InSiGHT LOVDv2 ID:21525; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 22 1 Michael Woods
00002130 - - ES - InSiGHT LOVDv2 ID:1008365; This data has been transferred from InSiGHT LOVDv2 database. - A+; - ? - 1 1 Michael Woods
00002131 - F BR - InSiGHT LOVDv2 ID:1010906; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002132 - F BR - InSiGHT LOVDv2 ID:1010908; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002133 silvafelipe - BR - InSiGHT LOVDv2 ID:1010910; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002134 - M BR - InSiGHT LOVDv2 ID:1010911; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002135 - F BR - InSiGHT LOVDv2 ID:1010917; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002136 - - - - InSiGHT LOVDv2 ID:1013365; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 InSiGHT group
00002137 - - - - InSiGHT LOVDv2 ID:1013369; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 InSiGHT group
00002138 - - - - InSiGHT LOVDv2 ID:1013371; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 InSiGHT group
00002140 - - - - InSiGHT LOVDv2 ID:1016309; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 InSiGHT group
00002141 - - - - InSiGHT LOVDv2 ID:1016342; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 InSiGHT group
00002142 - M - - InSiGHT LOVDv2 ID:1016705; This data has been transferred from InSiGHT LOVDv2 database. - Bethesda; - CRC , Additional info: Colon; 3 1 InSiGHT group
00002143 - ? - - InSiGHT LOVDv2 ID:20719; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002144 - F BR - InSiGHT LOVDv2 ID:1010907; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002145 - M BR - InSiGHT LOVDv2 ID:1010909; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 1 1 Felipe Silva
00002146 - - BR - InSiGHT LOVDv2 ID:1010915; This data has been transferred from InSiGHT LOVDv2 database. - - - Lynch Syndrome - 3 1 Felipe Silva
00002147 - ? - - InSiGHT LOVDv2 ID:20737; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Michael Woods
00002149 - ? DE - InSiGHT LOVDv2 ID:10824; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 4 1 Prof. Dr. med. Peter Propping
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