All individuals with variants in gene MLH1

7474 entries on 75 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     
00001847 - M - - - - 2 gen & 3 cases CRC 54,66,47; 4 Cases of Breast Ca ( Amsterdam II) CRC Lynch Syndrome Adenocarcinoma 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 1 1 Ruth Armstrong
00001856 - F UK - - - Mother caecal cancer (untested) at 34y CRC Lynch Syndrome Caecal Adenocarcinoma 1 1 Ruth Armstrong
00001857 - F - - - - 2 Gen; 3 Cases CRC 47,75,76 (Amsterdam Criteria II) CRC Lynch Syndrome Ascending Colon adenocarcinoma 1 1 Ruth Armstrong
00001859 - F - - - - 2 Gen;?2 sides of family?;3 Cases CRC 39,54,89; CRC Lynch Syndrome Sigmoid Adenocarcinoma 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 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 1 1 John Paul Plazzer
00001862 - M - - - - 2 Gen;3 Cases CRC 40,45,70 (Amsterdam II Criteria) CRC Lynch Syndrome Rectal Adenocarcinoma 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 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 1 1 Ruth Armstrong
00001865 - F - - - - 3 gen ; 5 Case CRC 30,30,54,70,70+ (Amsterdam II) CRC - Colorectal carcinoma 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 2 1 Ruth Armstrong
00001868 - F - - - - 2 Gen; 4 Cases CRC 50,62,62,68; 1 Case breast Ca 30 CRC Lynch Syndrome Rectal Carcinoma 1 1 Ruth Armstrong
00001870 - F - - - - 4 Gen;7 cases CRC 27,40,48,52,60,63,68 (Amsterdam II) CRC Lynch Syndrome CRC 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 1 1 Ruth Armstrong
00001872 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) CRC Lynch Syndrome Right Colon Adenocarcinoma 1 1 Ruth Armstrong
00001873 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) FH Lynch Syndrome No tumour/not symptomatic 1 1 Ruth Armstrong
00001874 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 ( Amsterdam II) CRC Lynch Syndrome Colorectal Carcinoma 1 1 Ruth Armstrong
00001875 - F - - - - 2 Gen; 4 Cases CRC 40,40,26,50 (Amsterdam II) FH Lynch Syndrome No tumour/not symptomatic 1 1 Ruth Armstrong
00001879 - F - - - - Amsterdam I; pedigree provided. family history CRC, Lynch Syndrome CRC; Unspecified Gynecological Cancer. 21y and 50y; 1 1 John Paul Plazzer
00001880 InSiGHT Variant Interpretation Committee April 2016 M - - - - Amsterdam I; pedigree provided family history CRC, Lynch Syndrome crc 1 1 John Paul Plazzer
00001881 - - - - - - First cousin once removed with CRC Family history CRC - 1 1 Bryony A Thompson
00001882 - - - - - - Second cousin with CRC Family history CRC - 1 1 Bryony A Thompson
00001883 - - - - - - Second cousin with CRC Family history CRC - 1 1 Bryony A Thompson
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) 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 - 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 - 1 1 Elke Holinski-Feder
00002757 - - - - InSiGHT LOVDv2 ID:1013024; This data has been transferred from InSiGHT LOVDv2 database. - - - ? - 1 1 Mark Jenkins
00003507 Ward et al. (2013) M United States Caucasian - - Unknown MSI and MLH1- CRC transverse colon 1 1 Robyn Ward
00003508 Ward et al. (2013) F United States Caucasian - - Unknown MSI and MLH1- CRC cecum 1 1 Robyn Ward
00003509 Ward et al. (2013) F United States Caucasian - - Unknown MSI and MLH1- CRC, cancer, endometrial cecum, 2x uterus (64y,66y,66y) 1 1 Robyn Ward
00003510 Ward et al. (2013) F United States African American - - Unknown MSI and MLH1- CRC ascending colon 1 1 Robyn Ward
00003511 Ward et al. (2013) M United States Caucasian - - Unknown MSI or MLH1- CRC cecum 1 1 Robyn Ward
00003512 Ward et al. (2013) M Canada Caucasian - - Unknown MSI or MLH1- CRC descending colon, 2x cecum (50,52,54) 1 1 Robyn Ward
00003513 - M - - - - Unknown MSI or MLH1- ? - 1 1 Robyn Ward
00003514 - M - - - - Unknown MSI or MLH1- ? - 1 1 Robyn Ward
00003515 Ward et al. (2013) F - - - - Unknown MSI or MLH1- CRC - 1 1 Robyn Ward
00003516 Ward et al. (2013) F - - - - Unknown MSI or MLH1- CRC - 1 1 Robyn Ward
00003517 Ward et al. (2013) M - - - - Unknown MSI or MLH1- CRC - 1 1 Robyn Ward
00003518 Ward et al. (2013) F - - - - Unknown MSI or MLH1- ? - 1 1 Robyn Ward
00003522 - F New Zealand British - - father adenocarcinoma cecum 62 LOE MLH1/PMS2 & VUS grandfather rectal ca 65 aunt breast and endometrial ca no LOE aunt and grandmother breast ca IHC CRC 2 MLH1 variants. No mutations in PMS2 1 2 courtney forgeng
00003523 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003525 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003526 Ward et al. (2013) - - - - - - - in vitro - 1 1 Robyn Ward
00003527 Ward et al. (2013) - - - - - - - in vitro - 1 1 Robyn Ward
00003528 Ward et al. (2013) - - - - - - - in vitro - 1 1 Robyn Ward
00003529 Ward et al. (2013) - - - - - - - in vitro - 1 1 Robyn Ward
00003530 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003531 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003532 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003533 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003535 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003536 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003537 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003538 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003539 Tricarico et al., under revision - - - - - - - in vitro - 1 1 Alexandra Martins
00003540 - - - - - - - - ? - 1 1 Gabriel Capellá
00003541 - - - - - - - - ? - 1 1 Gabriel Capellá
00003542 - - - - - - - - ? - 1 1 Gabriel Capellá
00003543 - - - - - - - - ? - 1 1 Gabriel Capellá
00003544 - - - - - - - - ? - 1 1 Gabriel Capellá
00003545 - - - - - - - - ? - 1 1 Gabriel Capellá
00003546 - - - - - - - - ? - 1 1 Gabriel Capellá
00003547 - - - - - - - - ? - 1 1 Gabriel Capellá
00003548 - - - - - - - - ? - 1 1 Gabriel Capellá
00003549 - - - - - - - - ? - 1 1 Gabriel Capellá
00003550 - - - - - - - - ? - 1 1 Gabriel Capellá
00003551 - - - - - - - - ? - 1 1 Gabriel Capellá
00003552 - - - - - - - - ? - 1 1 Gabriel Capellá
00003553 - - - - - - - - ? - 1 1 Gabriel Capellá
00003554 - - - - - - - - ? - 1 1 Gabriel Capellá
00003555 - - - - - - - - ? - 1 1 Gabriel Capellá
00003556 - - - - - - - - ? - 1 1 Gabriel Capellá
00003557 - - - - - - - - ? - 1 1 Gabriel Capellá
00003558 - - - - - - - - ? - 1 1 Gabriel Capellá
00003559 - - - - - - - - ? - 1 1 Gabriel Capellá
00003560 - - - - - - - - ? - 1 1 Gabriel Capellá
00003561 - - - - - - - - ? - 1 1 Gabriel Capellá
00003562 - - - - - - - - ? - 1 1 Gabriel Capellá
00003563 - - - - - - - - ? - 1 1 Gabriel Capellá
00003564 - - - - - - - - ? - 1 1 Gabriel Capellá
00003565 - - - - - - - - ? - 1 1 Gabriel Capellá
00003566 - - - - - - - - ? - 1 1 Gabriel Capellá
00003613 - F United Kingdom - - - The MLH1 mutation comes from the girl’s mother (who is unaffected), whose father died from CRC at age 39 and has other affected relatives. The girl’s father passed the MSH6 mutation on to her, and he is unaffected, but as he was adopted he has no idea what his family history is. - cancer, rectal 15y girl with a rectal cancer and a tubulovillous adenoma in the sigmoid colon. 1 1 Ian Frayling
00003639 - F Germany - - - father 71 y CC, sister 45 y breast and ovarial cancer, other sister breast and brain cancer, daughter and son 2-3 benign adenomas - CRC 40 y CC sigmoid 1 1 Elke Holinski-Feder
00003640 - F Germany - - - no cancers reported until 80y of age in parents or family - CRC 51 y breast C ductal, 56 y CC 1 1 Elke Holinski-Feder
00003641 - F Germany - - - father 40 y CC and died - CRC 79 y CC 1 1 Elke Holinski-Feder
00003642 - M - - - - unknown - CRC 43 y CC 1 1 Elke Holinski-Feder
00003643 - F Germany - - - 56 y ovarial metastasis, mother 54 y CRC, died at age 63 y - CRC 54 y CC transversum 1 1 Elke Holinski-Feder
00003644 - ? - - constitutional MLH1 epimutation carrier - no - CRC 40 y CC ascending, 44 y CC rectum 1 1 Elke Holinski-Feder
00003645 - F Germany - - - no - cancer, endometrial 66 y EC 1 1 Elke Holinski-Feder
00003646 - M Germany - - - - - CRC 39 y CC sigma 1 1 Elke Holinski-Feder
00003647 - M Germany - - - no - CRC 70 y CC 1 1 Elke Holinski-Feder
00003648 - ? Germany - - - unknown - CRC CRC 1 1 Elke Holinski-Feder
00003649 - F Germany - - - no - CRC 68 y metachronous CC and two adenomas 1 1 Elke Holinski-Feder
00003650 - F Germany - - - father 71 y CC, half-brother (paternal) 40 y adenoma, paternal cousin (female) 48 y breast cancer - CRC 51 y synchronous CC 1 1 Elke Holinski-Feder
00003653 - M Italy Caucasian Tested for CDH1, CHECK2, PTEN, SMAD4, BMPR1A, TP53, by means of NGS-MiSeq Illumina. All resulted negative - Maternal grandmother with gastric tumor at 70y cousin dies at 30y for pancreatic cancer Maternal uncle with prostatic tumor, diagnosis before 60y Maternal aunt with lung cancer, diagnosis before 60y infiltrative rectal adenocarcinoma neoplasia, colorectal, early onset - 1 1 Giulia Martina Cavestro, M.D., Ph.D.
00003657 - M Germany - - - no tumors reported in family, healthy mother - CRC 39 y metachronous colon Ca, 47 y jejunum Ca 1 1 Elke Holinski-Feder
00003658 - M Germany - - - maternal grandfather 64 y colon Ca, mother 45 y breast cancer, died at 47 y, maternal aunt 54 y breast cancer - CRC 35 y colon C 1 1 Elke Holinski-Feder
00003659 - F Germany - - - no - CRC 31 y colon C 1 1 Elke Holinski-Feder
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