All individuals with variants in gene MSH6

3192 entries on 32 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00003286 - - - - - - - - - - - - - 1 1 Christopher Watson
00036251 - - - - - Germany - - - - - ? adenocarcinoma of colon 1 1 Andreas Laner
00036252 - - - - - Germany - - - - - HNPCC sister of index: suspected HNPCC, intestinal cancer at the age of 40, loss of MSH2, MSH6 and PMS2 1 1 Andreas Laner
00036253 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036254 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036255 - - - - - Germany - - - - - ? 53y-coecum cancer 1 1 Andreas Laner
00036256 - - - - - Germany - - - - - HNPCC Tubulovillöses Adenom with high-grade IEN; HNPCC 1 1 Andreas Laner
00036257 - - - - - Germany - - - - - ? Familiar intestinal cancer, colon-cancer at the age of 41, brother and father also cancer (CRC positive Amsterdam-Kriterien) 1 1 Andreas Laner
00036258 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036259 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036260 - - - - - Germany - - - - - ? colon-cancer, loss of MSH6 1 1 Andreas Laner
00036261 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036262 - - - - - Germany - - - - - ? familiar Polyposis Coli 1 1 Andreas Laner
00036263 - - - - - Germany - - - - - HNPCC suspected HNPCC / with Endometriumkarzinom 1 1 Andreas Laner
00036264 - - - - - Germany - - - - - ? jejunum-cancer; loss of MSI-H and MSH6 1 1 Andreas Laner
00036265 - - - - - Germany - - - - - ? rectal cancer 1 1 Andreas Laner
00036266 - - - - - Germany - - - - - HNPCC suspected HNPCC 1 1 Andreas Laner
00036267 - - - - - Germany - - - - - ? Colon-Cancer 1 1 Andreas Laner
00036268 - - - - - Germany - - - - - ? adenocarcinoma of rectum 1 1 Andreas Laner
00036269 - - - - - Germany - - - - - HNPCC suspected HNPCC, CRC at the age of 47 1 1 Andreas Laner
00036270 - - - - - Germany - - - - - ? rectal cancer, pT1,pN0,Mo StadiumI, zentral ulzeriertes mucinöses Adeno-Ca mit Infiltration in die Lamina substmucosa, maternal brother died of colon-Ca at the age of 40 1 1 Andreas Laner
00046950 - - Grantham assessment - highly likely deleterious, In silico prediction - disease causing; Family history- son CRC 31 (in NZ- segregation not done yet), another son ascending colon and rectal adenoma, and sigmoid hyperplastic polyp at 34, father CRC 61 F - - - - - - - HNPCC1 (Lynch) Endometrial (53y) 1 1 InSiGHT - John-Paul Plazzer
00047318 - PubMed: Kast 2012 - F - (Germany) - - - - - MINAS neoplasia, multiple inherited alleles; endometrial endometroid adenocarcinoma 46y (loss of MSH6 on IHC) 1 1 James Whitworth
00047863 - PubMed: Puijenbroek 2007 - F - (Netherlands) - - - - - MINAS colon adenomas x5 48y (All MSI stable. Retained MSH6 expression) 1 1 James Whitworth
00143779 - - - F - (Germany) - - - - - ? HP:0012114 (Endometrial carcinoma) 1 1 IMGAG
00155301 Individual 2 - - M - - - - - - - - - 1 1 Jessica Becker
00155594 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 11 1 CEMIC - Genotyping - Angela Solano
00155595 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 1 1 CEMIC - Genotyping - Angela Solano
00155597 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 1 1 CEMIC - Genotyping - Angela Solano
00155598 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155608 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 11 1 CEMIC - Genotyping - Angela Solano
00155609 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155612 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 10 1 CEMIC - Genotyping - Angela Solano
00155613 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 7 1 CEMIC - Genotyping - Angela Solano
00155616 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 8 1 CEMIC - Genotyping - Angela Solano
00155619 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 5 1 CEMIC - Genotyping - Angela Solano
00155627 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155628 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 8 1 CEMIC - Genotyping - Angela Solano
00155635 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155641 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155652 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155654 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155660 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155662 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 11 1 CEMIC - Genotyping - Angela Solano
00155667 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155668 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155669 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 10 1 CEMIC - Genotyping - Angela Solano
00155674 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 13 1 CEMIC - Genotyping - Angela Solano
00155675 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155679 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 14 1 CEMIC - Genotyping - Angela Solano
00155680 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 6 1 CEMIC - Genotyping - Angela Solano
00155689 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 12 1 CEMIC - Genotyping - Angela Solano
00155698 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 11 1 CEMIC - Genotyping - Angela Solano
00155707 - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - ? - 8 1 CEMIC - Genotyping - Angela Solano
00164652 - - - - - - - - - - - HNPCC5 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00183266 135763 - - F ? Germany - - - - - CRC CRC (Sigma) and endometrium-ca, MSI-H, loss MSH2/MSH6 1 1 Andreas Laner
00183538 - - - - - Germany - - - - - CRC 54 y jejunum C, tub. adenomas 1 1 Elke Holinski-Feder
00183539 - - - M - Germany - - - - - HNPCC MSI-H; 47y colon C; mother 50y endometrial C, 60y skin C, 70y colon C; maternal cousin 43y cervix C; maternal half-brother 39y seminome; maternal niece 17y lymphoma 1 1 Elke Holinski-Feder
00186882 - - 2 gen; 1xEndometrial 61;1 case CRC@64 F - - - - - - - HNPCC Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma 1 1 Ruth Armstrong
00186883 - - No FH of CRC F - - - - - - - HNPCC Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal 1 1 Ruth Armstrong
00186884 - - 3 gen & 6 cases of CRC( Amsterdam II) M - - - - - - - HNPCC Adenocarcinoma 2 1 Ruth Armstrong
00186885 - - 2 Gen(not sucessive); 1x CRC@51;1xStomach Ca@53 M - - - - - - - HNPCC Sigmoid mucinous adenocarcinoma, 3xTVA, MSH2 protein expression: weak 1 1 Ruth Armstrong
00186886 - - 2 Gen;2 cases CRC 58,42;2xbowel polyps. F - - - - - - - HNPCC Transverse Colon adenocarcinoma, >=35 pol 1 1 Ruth Armstrong
00186887 - - 2 Gen; 2 cases CRC 55,48;1 case endometrial 71 (Amsterdam II) F - - - - - - - HNPCC Rectal Adenocarcinoma 1 1 Ruth Armstrong
00186888 - - 2 Gen ;2casesCRC 18,66 F - - - - - - - HNPCC Ascending colon adenocarcinoma 1 1 Ruth Armstrong
00186908 - - mother with melanoma @63 yr M - - - - - - - HNPCC Sebaceous tumour 1 1 Ruth Armstrong
00186916 - - First cousin once removed with CRC - - - - - - - - ?, CRC - 1 1 Bryony A Thompson
00186922 - - Second degree relative with CRC - - - - - - - - ?, CRC - 1 1 Bryony A Thompson
00186923 - PubMed: Chika 2015 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. M - Japan - - - - - HNPCC Sigmoid Cancer 1 1 InSiGHT - John-Paul Plazzer
00186924 - - 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. M - Australia - - - - - HNPCC moderately differentiated adenocarcinoma of the rectum at age 50 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 - - - - - cancer, endometrial - 1 1 InSiGHT - John-Paul Plazzer
00187027 - - 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. - - - - - - - - ?, HNPCC - 1 1 Elke Holinski-Feder
00187056 - PubMed: van der,Klift H. 2005 - ? - Netherlands - - - - - ? - 2 1 Carli Tops
00187057 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187058 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187059 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187060 - - - F - - - - - - - cancer, endometrial - 1 1 Amanda Spurdle
00187061 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187062 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187063 - - - - - - - - - - - ? - 1 1 INSiGHT group
00187064 - - - M - - - - - - - CRC - 1 1 INSiGHT group
00187065 - - - F - Spain - - - - - cancer, endometrial Additional info: yes Pedigree available: yes; 1 1 José Luis Soto
00187067 - - - ? - - - - - - - HNPCC - 1 1 Michael Woods
00187070 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187071 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187072 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187073 - - - ? - - - - - - - ? - 1 1 Michael Woods
00187074 - - - - - Netherlands - - - - - CRC - 1 1 Ans M.W. van den Ouweland
00187075 - - - - - Netherlands - - - - - CRC - 1 1 Ans M.W. van den Ouweland
00187076 - - - - - Netherlands - - - - - CRC - 1 1 Hans Gille
00187077 - PubMed: Nicolaides 1996 - ? - - - - - - - ? - 1 1 INSiGHT group
00187078 - - - ? - - - - - - - ? - 2 1 Michael Woods
00187079 - - - ? - - - - - - - ? - 2 1 Michael Woods
00187080 - - - ? - Germany - - - - - CRC - 2 1 Peter Propping, Prof. Dr. med.
00187081 - - - ? - Germany - - - - - CRC - 3 1 Peter Propping, Prof. Dr. med.
00187082 - PubMed: Kolodner 1999 healthy controls - - - - - - - - ? - 1 1 INSiGHT group
00187083 - PubMed: Plaschke 2000 healthy donors - - - - - - - - ? - 1 1 INSiGHT group
00187084 - PubMed: Nicolaides 1996 - ? - - - - - - - ? - 1 1 INSiGHT group
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