All individuals with variants in gene MSH2

5754 entries on 58 pages. Showing entries 1 - 100.
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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
00001858 - F - - - - 1 Case , sebaceous adenoma Sebaceous adenoma Lynch Syndrome Sebaceous adenoma, 1 dysplastic polyp 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 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 1 2 John-Paul Plazzer
00001878 Liu 2001 M - - nephew of CW (III4) - - - Lynch Syndrome colorectal cancer 42y 1 1 Johan den Dunnen
00001884 - - - - - - First cousin once removed with CRC Family history CRC - 1 1 Bryony A Thompson
00001885 - - - - - - First cousin with CRC Family history CRC - 1 1 Bryony A Thompson
00001886 - - - - - - First cousin with CRC Family history CRC - 1 1 Bryony A Thompson
00001887 - - - - - - Second degree relative with CRC Family history CRC - 1 1 Bryony A Thompson
00001888 - - - - - - Half-second cousin with CRC Family history CRC - 1 1 Bryony A Thompson
00001889 - - - - - - Half first cousin once removed with CRC Family history CRC - 1 1 Bryony A Thompson
00002040 - - - - 76 y Urothelca, MSS, IHC positive in MLH1, MSH2, MLH6, PMS2 n.a. - Amsterdam-old family - Lynch Syndrome - 1 1 Elke Holinski-Feder
00002041 InSiGHT Variant Interpretation Committee April 2016 - - - 72 y Polyposis left Colon - - - polyposis - 1 1 Elke Holinski-Feder
00002047 - - - - No tumour testing has been done. - - - Lynch Syndrome - 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 - 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) 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) 1 1 Elke Holinski-Feder
00002104 - ? DE - InSiGHT LOVDv2 ID:11098; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00002107 - ? DE - InSiGHT LOVDv2 ID:11252; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 2 1 Prof. Dr. med. Peter Propping
00002149 - ? DE - InSiGHT LOVDv2 ID:10824; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00002150 - ? DE - InSiGHT LOVDv2 ID:10976; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 3 1 Prof. Dr. med. Peter Propping
00002156 - ? DE - InSiGHT LOVDv2 ID:11345; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00002213 - ? DE - InSiGHT LOVDv2 ID:11001; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00002214 - ? DE - InSiGHT LOVDv2 ID:11058; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 2 1 Prof. Dr. med. Peter Propping
00002286 - ? DE - InSiGHT LOVDv2 ID:10803; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 1 1 Prof. Dr. med. Peter Propping
00002289 - ? DE - InSiGHT LOVDv2 ID:11277; This data has been transferred from InSiGHT LOVDv2 database. - - - CRC - 2 1 Prof. Dr. med. Peter Propping
00002512 - - - - InSiGHT LOVDv2 ID:1013002; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Mark Jenkins
00003519 Liu et al. (2015) M - Caucasian - - His father presented with colorectal cancer at age 38 and died at 40. His sister had three hyperplastic polyps at 43 and a partial thyroidectomy (not cancer). His mother was diagnosed with non-Hodgkin lymphoma and colorectal cancer at 65 and 72, respectively. The proband's paternal grandmother had breast and liver cancer and cancer of unknown primary and died at age 47. She also had a hysterectomy at an unknown age and for unknown reasons. MSH2- and MSH6- cancer Three tubular adenomas (one with severe epithelial dysplasia) in the proximal colon, a squamous cell carcinoma on the cheek, a thyroid follicular adenoma and a multi-nodular goitre (38). Three tubular adenomas, two tubulovillous adenomas (one was a recurrent polyp at anastomosis site from previous hemicolectomy) and multiple hyperplastic polyps were resected from his colon (44). Two sebaceous adenomas (48) and a duodenal polyp (52). Developed sebaceomas on the face every 1-2 years since age 48. 3 1 Robyn Ward
00003520 Liu et al. (2015) M - - - - Family history is largely unknown. Father died in his mid-sixties from primary gastric cancer that metastasized to the esophagus. MSH2- and MSH6- CRC CRC (43), sebaceomas (53 and 55) and uretic cancer (58). 3 1 Robyn Ward
00003567 - - - - - - - - ? - 1 1 Gabriel Capellá
00003568 - - - - - - - - ? - 1 1 Gabriel Capellá
00003569 - - - - - - - - ? - 1 1 Gabriel Capellá
00003570 - - - - - - - - ? - 1 1 Gabriel Capellá
00003571 - - - - - - - - ? - 1 1 Gabriel Capellá
00003572 - - - - - - - - ? - 1 1 Gabriel Capellá
00003573 - - - - - - - - ? - 1 1 Gabriel Capellá
00003574 - - - - - - - - ? - 1 1 Gabriel Capellá
00003575 - - - - - - - - ? - 1 1 Gabriel Capellá
00003576 - - - - - - - - ? - 1 1 Gabriel Capellá
00003577 - - - - - - - - ? - 1 1 Gabriel Capellá
00003578 - - - - - - - - ? - 1 1 Gabriel Capellá
00003579 - - - - - - - - ? - 1 1 Gabriel Capellá
00003580 - - - - - - - - ? - 1 1 Gabriel Capellá
00003581 - - - - - - - - ? - 1 1 Gabriel Capellá
00003582 - - - - - - - - ? - 1 1 Gabriel Capellá
00003583 - - - - - - - - ? - 1 1 Gabriel Capellá
00003584 - - - - - - - - ? - 1 1 Gabriel Capellá
00003585 - - - - - - - - ? - 1 1 Gabriel Capellá
00003586 - - - - - - - - ? - 1 1 Gabriel Capellá
00003587 - - - - - - - - ? - 1 1 Gabriel Capellá
00003588 - - - - - - - - ? - 1 1 Gabriel Capellá
00003589 - - - - - - - - ? - 1 1 Gabriel Capellá
00003590 - - - - - - - - ? - 1 1 Gabriel Capellá
00003591 - - - - - - - - ? - 1 1 Gabriel Capellá
00003611 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003612 Tricarico et al., under revision - - - - - - - in vitro - 2 1 Alexandra Martins
00003614 - F United Kingdom - - - Daughter diagnosed with bowel cancer at 35 sadly deceased, IHC result was normal, but MSI was unstable. MLH1 analysis was normal Mother diagnosed with endometrial cancer at 52 and rectal cancer at 71. IHC in the mother’s endometrial tumour tissue showed loss of MSH6. IHC in the mother’s rectal cancer was normal. EPCAM and MSH6 mutation analysis were normal. Both have this MSH2 variant, and mother’s brother who was unaffected in his 70’s did not carry the familial VUS. - CRC Poorly differentiated carcinoma in ascending colon 1 1 Emma Williams
00003615 - - United Kingdom - - - - - CRC - 1 1 Ian Berry
00003616 - - United Kingdom - - - - - - - 1 1 Ian Frayling
00003617 - F United States Asian - - Mother of proband had endometrial at 62y and colon at 67y - cancer, endometrial - 1 1 John Paul Plazzer
00003618 - F United States Asian/Native American - - mother CRC 70, brother brain tumor at 10 - CRC, polyps , 20-99 adenomatous polyps dx at 18 1 1 John Paul Plazzer
00003619 - F United States Asian/Caucasian 60yo Asian/Caucasian F dx with 6-9 adenomatous polyps and CRc AT 40 - sister thyroid ca at 30 and breast ca at 53 and then uterine(?)/ovarian(?) at 59, brother CRC 41, mother ovarian at 40, father CRC and prostate in his 70s - CRC, polyps , 6-9 adenomatous polyps 1 1 John Paul Plazzer
00003620 - F United States Asian 76yo Asian F dx with CRC - daughter stomach ca 53, son glioblastoma 12 - CRC - 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 - 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 - 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 - 1 1 John Paul Plazzer
00003624 - F United States Filipino - - sister-ut@46; sister-br@46; sister-br@54; sister-br@42; brother-gallbladder@44 - Healthy/Control - 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 - 1 1 John Paul Plazzer
00003626 - F United States Asian 71yo Asian F w/ colon ca - paternal hx unknown, dad died in 20s - CRC - 1 1 John Paul Plazzer
00003627 - F United States Caucasian/Asian - - mother endometrial ca dx in 60s; maternal GM CRC and endometrial ca; father bladder ca dx 65; brother dx with bladder ca in 30s?; sister dx with bladder ca in 20s?; multiple maternal aunts and uncles dx with CRC, endometrial, bladder cancers (ages at dx unknown). Close to meeting Amsterdam criteria, but no one dx with Lynch associated cancer under the age of 50. - CRC - 1 1 John Paul Plazzer
00003636 Tournier et al., 2008,Tricarico et al., under revision - - - - - - - in vitro - 2 1 Alexandra Martins
00003637 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003638 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003704 - F UK - - - The patients mother died of bowel cancer at 60 years and her mother's brother likewise at age 48 years. - CRC caecal cancer 1 1 Esther Horton
00003708 Tricarico et al., under revision - - - - - - - in vitro - 2 1 Alexandra Martins
00003709 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003710 Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished - - - - - - - in vitro - 3 1 Alexandra Martins
00003711 Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France) described as data not shown in Tricarico et al., under revision - - - - - - - in vitro - 2 4 Alexandra Martins
00003744 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - Variant found in 1 family with CRC outside 2000-2009 period - 1 individual with variant and cancer had tumor testing CRC CRC 1 1 Sigurdis Haraldsdottir
00003752 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (4) 1 1 Sigurdis Haraldsdottir
00003753 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (1) 1 1 Sigurdis Haraldsdottir
00003754 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (7), MLH1-hm (1) 1 1 Sigurdis Haraldsdottir
00003755 Haraldsdottir et al. Accepted into Nature Communications - Iceland - - - - - CRC CRC patients found to have variant on imputation - MMR IHC/hm studies reported and number of patients in parenthesis: Normal (15), MLH1-hm (1), MSH6 miss (1)** 1 1 Sigurdis Haraldsdottir
00003771 - - - - - - - - Lynch Syndrome - 1 1 medgendd
00003773 - M Finland - - - yes family history and IHC cancer, rectal - 1 1 Carli Tops
00003776 - F Irish Caucasian - - Bethesda MSI cancer, breast, cancer, endometrial - 1 1 Michael Farrell
00003821 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003822 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003823 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003824 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003825 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003826 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003827 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003828 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003829 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003830 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003831 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003832 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003833 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
00003834 - - Australia - Submitted by ICCON South Australia - - - ? - 1 1 ICCon
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