Disease #00043

Official abbreviation cancer, colon
Name cancer, colon
OMIM ID -
Individuals reported having this disease 181
Phenotype entries for this disease 177
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

181 entries on 2 pages. Showing entries 1 - 100.
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Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00034093 - - UK - - Yes Father caecal tumour @67 years, then synchronous sigmoid and renal cell carcinoma @71. Rectal ca@85 years. IHC caecal ca – loss MLH1 and PMS2 Wild type BRAF, normal methylation MLH1 germline MLH1 c.293G>A Daughter – rectal polyp ca @ 50 years, endometriod ovarian ca@ 37 years Has subsequently had 4- 5 TVA. IHC rectal polyp – normal staining. Germline MLH1 c.293G>A Son – TCC bladder @ 56 years, type 2 papillary renal carcinoma @ 57 years. Colonoscopy – 3 polyps adenomas IHC MMR renal carcinoma – normal staining. Germline wild type MLH1 Son – ascending colon adenocarcinoma @48 years. IHC MMR normal staining germline MLH1 c.293G>A - cancer, colon right colon cancer, sigmoid colon cancer - MLH1 1 1 John Paul Plazzer
00034124 - M - - - No - - cancer, colon, polyposis - MUTYH MUTYH 2 1 Esther Sarasola
00034576 - M - - - - - - cancer, colon - MLH1, MSH2, MSH6, PMS2 MSH2 1 1 Esther Sarasola
00034596 Duraturo et al. 2015 - Italy - - - Bethesda; maternal uncle died of rectal cancer at age 57, MUT+ - cancer, colon Cancer of the ascending colon at age 44; - MLH1 1 1 John Paul Plazzer
00034598 Duraturo et al. 2015 Viel et al 1997 - Italy - - - Bethesda; father with kidney cancer diagnosed at age 60, MUT+ - cancer, colon Cancer of the ascending colon - MLH1 1 1 John Paul Plazzer
00034599 Duraturo et al. 2015 - Italy - - - Bethesda; no family history (adopted subject) - cancer, colon Cancer of the ascending colon - MSH2 1 1 John Paul Plazzer
00034600 Duraturo et al. 2015 - Italy - - - Bethesda; maternal grandmother died of rectal cancer at age 77 - cancer, colon Cancer of the ascending colon - MSH2 1 1 John Paul Plazzer
00034601 Duraturo et al. 2015 - Italy - - - Bethesda; no reported family history. - cancer, colon cancer of the ascending colon - MSH2 1 1 John Paul Plazzer
00034606 Görgens 2006 - Germany white 3/50 (6%) HNPCC patients (42/50 <50 years); (8.6% of 116 controls) - - - cancer, colon HNPCC MUTYH MUTYH 1 3 Astrid Out
00034607 Görgens 2006 - Germany white - - - - cancer, colon HNPCC MUTYH MUTYH 1 1 Astrid Out
00034609 Görgens 2006 - Germany white - - - - cancer, colon HNPCC MUTYH MUTYH 1 11 Astrid Out
00034611 Görgens 2006 - Germany white Rectal cancer age 48; no family history; 1/50 patients (0,9% of controls) - - - cancer, colon HNPCC MUTYH MUTYH 1 1 Astrid Out
00034612 Görgens 2006 - Germany white Rectal cancer age 42; no family history; 1/50 patients (0 controls) - - - cancer, colon HNPCC MUTYH MUTYH 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 MUTYH MUTYH 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 MUTYH MUTYH 1 2 Astrid Out
00034616 Görgens 2006 - Germany white 6/50 (12%) HNPCC patients (42/50 <50 years); (11,2% of 116 controls) - - - cancer, colon HNPCC MUTYH MUTYH 1 6 Astrid Out
00034618 Görgens 2006 - Germany white - - - - cancer, colon HNPCC MUTYH MUTYH 1 12 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) MUTYH MUTYH 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) MUTYH MUTYH 2 9 Astrid Out
00034622 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034623 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034624 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034625 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034626 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 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) MUTYH MUTYH 1 7 Astrid Out
00034628 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034629 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034630 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 2 Astrid Out
00034631 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034632 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034633 Eliason 2005 - United States - - - - - cancer, colon HNPCC MUTYH MUTYH 1 8 Astrid Out
00034634 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034635 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034636 Eliason 2005 - United States - - - - - cancer, colon (FAP);(HNPCC) MUTYH MUTYH 1 2 Astrid Out
00034637 Eliason 2005 - United States - - - - - cancer, colon FAP MUTYH MUTYH 1 2 Astrid Out
00034651 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC MUTYH MUTYH 1 1 Astrid Out
00034652 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC MUTYH MUTYH 2 1 Astrid Out
00034653 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC MUTYH MUTYH 1 1 Astrid Out
00034654 Gismondi 2004 - Italy - - - - - cancer, colon FAP;CRC MUTYH MUTYH 2 1 Astrid Out
00034655 Gismondi 2004 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034656 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034657 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034658 Aceto 2005 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034659 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034660 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034661 Aceto 2005 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034662 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 2 1 Astrid Out
00034663 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034664 Aceto 2005 - Italy - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034665 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034666 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034667 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034668 Enholm 2003 M Finland - 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034670 Enholm 2003 M Finland - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034673 Enholm 2003 F Finland - 1/1003 (0,1%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034674 Enholm 2003 F Finland - 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034675 Enholm 2003 F Finland - 4/1003 (0.4%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034676 Enholm 2003 M Finland - 3/1003 (0.3%) patients with >3 polyps; 0/424 Finnish controls - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034677 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034678 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034679 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034680 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034681 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034682 Gismondi 2004 - Italy - - - - - cancer, colon AFAP MUTYH MUTYH 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 MUTYH MUTYH 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 MUTYH MUTYH 1 1 Astrid Out
00034701 Sieber 2003; {OMIM604933:0001} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034703 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034705 Sieber 2003; {OMIM604933:0001} F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 3/107 UK patients with classic FAP; APC mutation negative - - - cancer, colon FAP MUTYH MUTYH 1 1 Astrid Out
00034714 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034715 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034716 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034717 Bouguen 2007 F France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034718 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034719 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034720 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034721 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034722 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034723 Bouguen 2007 M France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 1 1 Astrid Out
00034724 Bouguen 2007 F France white APC negative patients - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034731 Alhopuro 2005 - Finland - - - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 1 1 Astrid Out
00034732 Alhopuro 2005 - Finland - - - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 1 1 Astrid Out
00034733 Alhopuro 2005 - Finland - 7/24 individuals (22 families). FAP: 19, AFAP: 3 - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 1 7 Astrid Out
00034734 Alhopuro 2005 - Finland - - - - - cancer, colon FAP;HNPCC MUTYH MUTYH 1 2 Astrid Out
00034735 Alhopuro 2005 - Finland - - - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 1 1 Astrid Out
00034736 Alhopuro 2005 - Finland - - - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 1 1 Astrid Out
00034737 Alhopuro 2005 - Finland - - - - - cancer, colon (FAP);(AFAP) MUTYH MUTYH 2 1 Astrid Out
00034738 Alhopuro 2005 - Finland - population-based series; 1 homozygote / 1,042 CRC patients (0/85 controls) - - - cancer, colon AFAP;cancer, cervix MUTYH MUTYH 1 1 Astrid Out
00034744 Kambara 2004 M Australia - familial CRC patient; does not meet Bethesda criteria. - - - cancer, colon - MUTYH MUTYH 2 1 Astrid Out
00034747 Kambara 2004 M Australia - - - - - cancer, colon AFAP; mulitple polyps MUTYH MUTYH 1 1 Astrid Out
00034748 Kambara 2004 M Australia - - - - - cancer, colon AFAP; mulitple polyps MUTYH MUTYH 1 1 Astrid Out
00034751 Vandrovcová 2004 M Czech Republic - 1 biallelic among 21 APC neg patients (probands) - - - cancer, colon AFAP MUTYH MUTYH 2 1 Astrid Out
00034755 Nielsen 2005; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - cancer, colon Multiple polyps; CRC 2 coecum, 2 ascending colonileum; stage 1 D and 4; Age CRC 41, 41, 41, 41, 41 died of CRC (44); family history Sporadic;; no EGD; 41y-CRC; diagnosis: colorectal symptoms; mulitple polyps MUTYH MUTYH 2 1 Carli Tops
00034757 Nielsen 2005; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b; Vogt 2009 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC stage B2; family history AD; esophagic cancer (59); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 59y; 49y-CRC sigmoid; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00034758 Nielsen 2005; Nielsen 2007; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC stage D; MSS;family history AR; parents consanguineous; basalioma (41); died of CRC (49); no EGD; 45y-ascending; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00034760 Nielsen 2005; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC stage B2 MSS; family history AD; no EGD; 59y-hepatic flexure; diagnosis: colorectal symptoms; >20 polyps MUTYH MUTYH 2 1 Carli Tops
00034762 Nielsen 2005; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC colon stage B1, B2; benign endometrial tumor (57); family history Sporadic;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 53y; 43/46y-coecum and transverse; diagnosis: colorectal symptoms; 10-50 polyps MUTYH MUTYH 2 1 Carli Tops
00034764 Nielsen 2005; Nielsen 2009a; Nielsen 2009b; Vogt 2009 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC coecumstage D;MSS; died CRC45; family history AD; no EGD; 45y-coecum; diagnosis: colorectal symptoms; 35 polyps MUTYH MUTYH 2 1 Carli Tops
00034765 Nielsen 2005; Middeldorp 2008; Nielsen 2009a; Nielsen 2009b; Vogt 2009 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC stageC2; family history AD;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 67y; 67y-ascending; diagnosis: colorectal symptoms; >100 polyps MUTYH MUTYH 2 1 Carli Tops
00034766 Nielsen 2005; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - cancer, colon CRC a stage, B; family history Sporadic;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 63y; 46y-ascending; diagnosis: colorectal symptoms; 50-100 polyps MUTYH MUTYH 2 1 Carli Tops
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