All individuals with variants in gene MUTYH

1470 entries on 15 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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     
00003777 - M Spain Caucasian - - None Attenuated polyposis polyposis - 1 1 Esther Sarasola
00028536 - M UK - - Yes The family history includes colon, endometrial, stomach, bladder and lung cancers with a number of other tumours such as medullablastoma, pituitary tumour and testicular cancer. The only other family member we have been able to test was distant relative (maternal cousin’s daughter) who was diagnosed with endometrial cancer age 44. She also carries the same MSH6 VUS. Testing on endometrial tumour did not show MSI or loss of proteins. - cancer, gastric, CRC adenocarcinoma of the stomach, adenocarcinoma transverse colon age 64 with additional TV adenomas, moderately differentiated adenocarcinoma of splenic flexure 1 1 John Paul Plazzer
00034100 Cohen et al. 2016 - - - - - - - cancer, rectal - 1 1 John Paul Plazzer
00034124 - M - - - No - - cancer, colon, polyposis - 2 1 Esther Sarasola
00034606 Görgens 2006 - Germany white 3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls) - - - cancer, colon HNPCC 1 3 Astrid Out
00034607 Görgens 2006 - Germany white - - - - cancer, colon HNPCC 1 1 Astrid Out
00034608 Görgens 2006 - Germany white - - - - ? - 1 1 Astrid Out
00034609 Görgens 2006 - Germany white - - - - cancer, colon HNPCC 1 11 Astrid Out
00034610 Görgens 2006 - Germany white 5,2% of 116 controls; (0/50 HNPCC patients (42/50 <50 years)) - - - ? - 1 1 Astrid Out
00034611 Görgens 2006 - Germany white Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls) - - - cancer, colon HNPCC 1 1 Astrid Out
00034612 Görgens 2006 - Germany white Rectal cancer age 42; no family history; 1/50 patients (0 controls) - - - cancer, colon HNPCC 1 1 Astrid Out
00034613 Görgens 2006 - Germany white 3/50 (6%) HNPCC patients (42/50 <50 years); (2.6% of 116 controls) - - - cancer, colon HNPCC 1 3 Astrid Out
00034614 Görgens 2006 - Germany white 2/50 (4%) HNPCC patients (42/50 <50 years); (3.4% of 116 controls) - - - cancer, colon HNPCC 1 2 Astrid Out
00034615 Görgens 2006 - Germany white 1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - - ? - 1 1 Astrid Out
00034616 Görgens 2006 - Germany white 6/50 (12%) HNPCC patients (42/50 <50 years); (11,2% of 116 controls) - - - cancer, colon HNPCC 1 6 Astrid Out
00034617 Görgens 2006 - Germany white 1,7% of 116 controls); (0/50 HNPCC patients (42/50 <50 years)) - - - ? - 1 1 Astrid Out
00034618 Görgens 2006 - Germany white - - - - cancer, colon HNPCC 1 12 Astrid Out
00034619 Görgens 2006 - Germany white - - - - ? - 1 1 Astrid Out
00034620 Eliason 2005 - United States - 4/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients - - - cancer, colon (FAP);(HNPCC) 1 5 Astrid Out
00034621 Eliason 2005 - United States - 7/219 APC neg FAP patients; 2/306 MLH1 and MSH2 neg HNPCC patients - - - cancer, colon (FAP);(HNPCC) 2 9 Astrid Out
00034622 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034623 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034624 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034625 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034626 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034627 Eliason 2005 - United States - 4/219 APC neg FAP patients; 3/306 MLH1 and MSH2 neg HNPCC patients - - - cancer, colon (FAP);(HNPCC) 1 7 Astrid Out
00034628 Eliason 2005 - United States - - - - - cancer, colon FAP 1 1 Astrid Out
00034629 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034630 Eliason 2005 - United States - - - - - cancer, colon FAP 2 2 Astrid Out
00034631 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034632 Eliason 2005 - United States - - - - - cancer, colon FAP 2 1 Astrid Out
00034633 Eliason 2005 - United States - - - - - cancer, colon HNPCC 1 8 Astrid Out
00034634 Eliason 2005 - United States - - - - - cancer, colon FAP 1 1 Astrid Out
00034635 Eliason 2005 - United States - - - - - cancer, colon FAP 1 1 Astrid Out
00034636 Eliason 2005 - United States - - - - - cancer, colon (FAP);(HNPCC) 1 2 Astrid Out
00034637 Eliason 2005 - United States - - - - - cancer, colon FAP 1 2 Astrid Out
00034638 Dolwani 2007 - India Indian subcontinent - - - - CRC - 1 1 Astrid Out
00034639 Dolwani 2007 - India Indian subcontinent 1/100 controls (1/120 CRC cases) - - - ? - 1 1 Astrid Out
00034640 Dolwani 2007 - India Indian subcontinent Zero among 120 CRC cases and 100 controls - - - CRC CRC or control 1 0 Astrid Out
00034641 Dolwani 2007 - India Indian subcontinent Zero among 120 CRC cases and 100 controls - - - CRC CRC or control 1 0 Astrid Out
00034642 Dolwani 2007 - India Indian subcontinent Zero among 120 CRC cases and 100 controls - - - CRC CRC or control 1 0 Astrid Out
00034643 Croitoru 2004 M Canada - - - - - CRC No polyps; 66y-CRC; no polyps 2 1 Astrid Out
00034644 Croitoru 2004 M Canada - - - - - CRC No polyps; 58y-CRC; no polyps 2 1 Astrid Out
00034645 Croitoru 2004 - Canada - - - - - ? - 1 5 Astrid Out
00034646 Croitoru 2004 F Canada - - - - - CRC Four tubular adenomas; 66y-CRC; 4 polyps 2 1 Astrid Out
00034647 Croitoru 2004 F Canada - - - - - CRC No polyps; 65y-CRC; no polyps 1 1 Astrid Out
00034648 Croitoru 2007; O Shea 2008 F Canada - - - - - CRC Six tubular adenomas; 35y-CRC; 6 polyps 2 1 Astrid Out
00034649 Croitoru 2007; O Shea 2008 F Canada - - - - - CRC Carpeted with adenomas; 45y-CRC; Carpeted polyps 2 1 Astrid Out
00034650 Croitoru 2007; O Shea 2008 F Canada - - - - - CRC Polyposis coli; 41y-CRC; Polyposis 2 1 Astrid Out
00034651 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC 1 1 Astrid Out
00034652 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC 2 1 Astrid Out
00034653 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC 1 1 Astrid Out
00034654 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC 2 1 Astrid Out
00034655 Gismondi 2004 - Italy - - - - - cancer, colon FAP 2 1 Astrid Out
00034656 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034657 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034658 Aceto 2005 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034659 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034660 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034661 Aceto 2005 - Italy - - - - - cancer, colon AFAP 1 1 Astrid Out
00034662 Aceto 2005 - Italy - - - - - cancer, colon FAP 2 1 Astrid Out
00034663 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034664 Aceto 2005 - Italy - - - - - cancer, colon FAP 1 1 Astrid Out
00034665 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034666 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 1 1 Astrid Out
00034667 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034668 Enholm 2003 M Finland - 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP 1 1 Astrid Out
00034669 Enholm 2003 F Finland - 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls - - - CRC - 1 1 Astrid Out
00034670 Enholm 2003 M Finland - - - - - cancer, colon AFAP 2 1 Astrid Out
00034671 Enholm 2003 F Finland - 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls - - - CRC - 1 1 Astrid Out
00034672 Enholm 2003 F Finland - 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls - - - CRC - 1 1 Astrid Out
00034673 Enholm 2003 F Finland - 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP 1 1 Astrid Out
00034674 Enholm 2003 F Finland - 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP 2 1 Astrid Out
00034675 Enholm 2003 F Finland - 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP 1 1 Astrid Out
00034676 Enholm 2003 M Finland - 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP 2 1 Astrid Out
00034677 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034678 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 1 1 Astrid Out
00034679 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034680 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 1 1 Astrid Out
00034681 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 2 1 Astrid Out
00034682 Gismondi 2004 - Italy - - - - - cancer, colon AFAP 1 1 Astrid Out
00034683 Sieber 2003 M United Kingdom (Great Britain) - - - - - adenoma - 1 1 Astrid Out
00034684 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - polyps 3-100 polpys 1 1 Astrid Out
00034685 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - adenoma - 1 1 Astrid Out
00034686 Sieber 2003; {OMIM604933:0002} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - adenoma - 1 1 Astrid Out
00034687 Sieber 2003; {OMIM604933:0002} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 1/107 UK classic FAP patients APC negative - - - adenoma - 1 1 Astrid Out
00034688 Sieber 2003; {OMIM604933:0002} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - cancer, colon FAP 1 1 Astrid Out
00034689 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys 1 1 Astrid Out
00034690 Sieber 2003; {OMIM604933:0002} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - cancer, colon FAP 1 1 Astrid Out
00034691 Sieber 2003; {OMIM604933:0002} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 1/107 UK classic FAP patients APC negative - - - adenoma - 1 1 Astrid Out
00034692 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - adenoma - 1 1 Astrid Out
00034693 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - polyps 3-100 polpys 1 1 Astrid Out
00034694 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - adenoma - 1 1 Astrid Out
00034695 Sieber 2003 F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys 1 1 Astrid Out
00034696 Sieber 2003 F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys 1 1 Astrid Out
00034697 Sieber 2003; Russell 2006 M Switzerland - 79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP - - - CRC Small intestinal polyps, stomach and duodenal polyps, adenocarcinoma; CRC Rectal; colorectal phenotype attennuated; <100 polyps 2 1 Karl Heinimann
00034698 Sieber 2003; {OMIM604933:0001} M United Kingdom (Great Britain) - - - - - adenoma - 1 1 Astrid Out
00034699 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - adenoma - 1 1 Astrid Out
00034700 Sieber 2003; {OMIM604933:0001} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - adenoma - 1 1 Astrid Out
00034701 Sieber 2003; {OMIM604933:0001} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - cancer, colon FAP 1 1 Astrid Out
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »