Disease #00024

Official abbreviation -
Name adenoma
OMIM ID -
Individuals reported having this disease 76
Phenotype entries for this disease 74
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues -
Disease features -
Remarks -


Individuals

76 entries on 1 page. Showing entries 1 - 76.
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Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

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00002326 - M US - InSiGHT LOVDv2 ID:1008349; This data has been transferred from InSiGHT LOVDv2 database. - - - adenoma Additional info: tubular adenoma *2 (4mm, 7mm), low-grade, proximal MSH6 MSH6 1 1 Michael Woods
00002700 - M US - InSiGHT LOVDv2 ID:1008350; This data has been transferred from InSiGHT LOVDv2 database. - - - adenoma Additional info: tubular adenoma, 4mm, low-grade, proximal MSH6 MSH6 1 1 Michael Woods
00003235 - M ? - InSiGHT LOVDv2 ID:1012963; This data has been transferred from InSiGHT LOVDv2 database. - - - adenoma Additional info: no Pedigree available: no; MSH6 MSH6 1 1 Marsha Speevak
00003270 - M - - Hepatobilary cancer; InSiGHT LOVDv2 ID:1017229; This data has been transferred from InSiGHT LOVDv2 database. - A-; Unknown adenoma Additional info: yes; Sebaceous adenoma MSH6 MSH6 1 1 Ruth Armstrong
00003795 - F Australia - Submitted by ICCON South Australia; CRC 53y Sebaceous adenoma 70y CRC 41y CRC 54y Sebaceous adenoma 70y Yes Bethesda IHC+MSI CRC, adenoma rectal adenocarcinoma, Sebaceous adenoma x2, right and left shoulder;, transverse colon adenocarcinoma MLH1 MLH1 1 1 ICCon
00022111 - M US Caucasian Positive family history, mother died CRC age 59y;InSiGHT LOVDv2 ID:1013124; Yes B-; Additional info: yes; Pedigree available: yes; Call (screening) adenoma Adenoma (42y); MLH1 MLH1 2 1 Megan Hitchins
00022411 - F - - InSiGHT LOVDv2 ID:1016092; - AM I - adenoma Adenoma (D12.6) MLH1 MLH1 1 1 InSiGHT group
00022412 - M - - InSiGHT LOVDv2 ID:1016093; - AM I - adenoma Adenoma (D12.6) MLH1 MLH1 1 1 InSiGHT group
00022638 - M - - BRAF V600E mutation status: not tested; BRAF testing method: ;InSiGHT LOVDv2 ID:1016694; - AM II - adenoma adenoma MLH1 MLH1 1 1 InSiGHT group
00024140 - F GR - InSiGHT LOVDv2 ID:1010540; - B+ Colorectal symptoms adenoma - MSH2 MSH2 1 1 VASILIKI PSOFAKI
00024227 - - BR - InSiGHT LOVDv2 ID:1013040; - - - adenoma - MSH2 MSH2 1 1 bernardo garicochea
00024477 - M UK - Mother does not carry MSH2 c.860_868del9 p.(Gly287_Phe289del), so implying that father who had rectal Ca at 48y did carry it.;InSiGHT LOVDv2 ID:1017224; Yes - Call (screening) adenoma Adenoma, 15mm MSH2 MSH2 1 1 Ian Frayling
00025257 - ? - - InSiGHT LOVDv2 ID:1016800; - revised Bethesda - adenoma Sebaceous adenoma MSH2 MSH2 1 1 InSiGHT group
00025352 - M - - InSiGHT LOVDv2 ID:1013853; - Am I - adenoma Rectum tubular adenoma with high grade dysplasia MSH2 MSH2 1 1 InSiGHT group
00027906 - M NL - 1 large adenoma with high grade dysplasia;InSiGHT LOVDv2 ID:1012045; - - Colorectal symptoms adenoma - PMS2 PMS2 1 1 Carli Tops
00027939 - M NL - InSiGHT LOVDv2 ID:1017175; - - Colorectal symptoms adenoma - PMS2 PMS2 2 1 Carli Tops
00028172 - ? NL - InSiGHT LOVDv2 ID:9989; - - Colorectal symptoms adenoma - MSH6, PMS2 MSH6, PMS2 2 1 Carli Tops
00028186 - M (NL) - InSiGHT LOVDv2 ID:1012044; - - Colorectal symptoms adenoma - PMS2 PMS2 1 1 Carli Tops
00028214 - M - - InSiGHT LOVDv2 ID:1013511; - none - adenoma multiple colorectal adenoma PMS2 PMS2 1 1 InSiGHT group
00028547 - M USA Caucasian mat great uncle stomach ca at 50, mother colon polyps (carries p.M1? and p.N21K VLB). Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?. - - - CRC, adenoma 3 primary tumors. MSH6 was absent on IHC in normal tissue as well as in the tumor, adenomatous polyps MSH6 MSH6 3 1 John Paul Plazzer
00028549 - F USA Caucasian - - mat aunt contralateral breast ca at 59 and 66, father might have had CRC but this was never formally dx (he just "had symptoms"), sister endometrial ca at 63 - adenoma, cancer, endometrial , 2-5 adenomatous polyps at 50 MSH6 MSH6 1 1 John Paul Plazzer
00033714 Zakalik, Goldstein & Ducaine F - - - - Nil Referred to Genetics by: Pathologist; Referral reason: Bethesda CRC, adenoma descending colon;tubular adenoma + colorectal;TVA 39y, sigmoid;carcinoma + colorectal;tubular adenoma +colorectal;hyperplastic polyp - MLH1 1 1 Ian Frayling
00033715 - F - - - - - Referred to Genetics by: Oncologist; Referral reason: Synchronous LS-associated tumour adenoma, cancer, endometrial Endometrioid UT/OV;Ca 45y, Sebaceous adenoma - MLH1 1 1 Ian Frayling
00033729 Kraus et al 1999 M - - Kraus C, Kastl S,Günther K, Klessinger S, Hohenberger W, Ballhausen WG. A proven de novo germline mutation in HNPCC. J Med Genet 1999 36:919-921. - - Referred to Genetics by: Research; Referral reason: Early onset CRC (<45) study CRC, adenoma caecum;carcinoma(in TVA) 35y, rectal;tubular adenoma 25y - MSH2 1 1 Ian Frayling
00033734 - F - - - - - - adenoma rectal;carcinoma - MSH2 1 1 Ian Frayling
00033749 Menko, Gille F - - - - - Referred to Genetics by: Surgeon; adenoma rectal;tubular adenoma [1.5cm] 26y - MSH6 1 1 Ian Frayling
00033792 - F german german no CRC; large rectumpolyp (adenoma) 2015, large polyp in colon transversum (tubular adenoma with high-grade intraepithelial neoplasia) 2017; MSI data not available, Yes Father: several polyps (no histology) and bile-duct carcinoma 68Y - adenoma large rectum polyp (adenoma) with 36y, large polyp in colon transversum (tubular adenoma with high-grade intraepithelial neoplasia) with 38y MLH1, MSH2, MSH6, PMS2 MSH6 1 1 Elke Holinski-Feder
00034603 Duraturo et al. 2015 - Italy - - - Bethesda; sister with adenocarcinoma of the ascending colon diagnosed at age 49; daughter with endometria - adenoma, cancer, prostate , Tubular-adenoma with severe dysplasia of the ascending colon diagnosed at age 58 - MSH2 1 1 John Paul Plazzer
00034683 Sieber 2003 M United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034685 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 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 - MUTYH MUTYH 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 - MUTYH MUTYH 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 - MUTYH MUTYH 1 1 Astrid Out
00034692 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034694 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034698 Sieber 2003; {OMIM604933:0001} M United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034699 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - adenoma - MUTYH MUTYH 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 - MUTYH MUTYH 1 1 Astrid Out
00034702 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 1/107 UK classic FAP patients APC negative - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034706 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034707 Sieber 2003; {OMIM604933:0001} M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034709 Sieber 2003; {OMIM604933:0001} M United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034710 Sieber 2003; {OMIM604933:0001} F United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034711 Sieber 2003 F Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 1/107 UK classic FAP patients APC negative - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034712 Sieber 2003 M Denmark;Finland;Switzerland;United Kingdom (Great Britain);Portugal - 1/107 UK classic FAP patients APC negative - - - adenoma No extracolonic features reported; no family history reported; no CRC; 100-1000 polyps MUTYH MUTYH 2 1 Astrid Out
00034713 Sieber 2003 F United Kingdom (Great Britain) - - - - - adenoma - MUTYH MUTYH 1 1 Astrid Out
00034740 Kambara 2004 - Australia - - - - - adenoma mulitple polyps MUTYH MUTYH 1 1 Astrid Out
00034752 Lipton 2003 - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - adenoma 70 adenomas 55y; MUTYH MUTYH 2 1 Carli Tops
00034820 Halford 2003 - (United Kingdom (Great Britain)) - - - - - adenoma Left sided poorly differentiated Dukes B cancer. No allelic loss in tumor; MUTYH MUTYH 1 1 Carli Tops
00034825 Sampson 2003 - United Kingdom (Great Britain) - 56y 14 adenomas; - - - adenoma 14 polyps MUTYH MUTYH 1 1 Carli Tops
00034894 Al-Tassan 2002; {OMIM604933:0002} - United Kingdom (Great Britain) - Family N, Sib II:1 - - - adenoma - MUTYH MUTYH 2 1 Astrid Out
00034895 Al-Tassan 2002; {OMIM604933:0002} - United Kingdom (Great Britain) - Family N, Sib II:2 - - - adenoma - MUTYH MUTYH 2 1 Astrid Out
00034896 Al-Tassan 2002; {OMIM604933:0002} - United Kingdom (Great Britain) - Family N, Sib II:3 - - - adenoma adenomas, CRC MUTYH MUTYH 2 1 Astrid Out
00034912 Al-Tassan 2002 - United Kingdom (Great Britain) - allele frequency 9% in 16 indiduals with 3-50 adenomas with or without carcinoma - - - adenoma adenomas, (CRC) MUTYH MUTYH 1 1 Astrid Out
00034913 Al-Tassan 2002 - United Kingdom (Great Britain) - 24% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma - - - adenoma adenomas, (CRC) MUTYH MUTYH 1 1 Astrid Out
00034914 Al-Tassan 2002 - United Kingdom (Great Britain) - 3% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma - - - adenoma adenomas, (CRC) MUTYH MUTYH 1 1 Astrid Out
00034915 Al-Tassan 2002 - United Kingdom (Great Britain) - 3 adenomas + CRC - - - adenoma adenomas, CRC MUTYH MUTYH 2 1 Astrid Out
00035075 Halford 2003 - (United Kingdom (Great Britain)) - age 53: right-sided, moderately differentiated, Dukes B cancer, no reported family history of colorectal tumors, multiple small adenomas synchronous with the carcinoma. - - - adenoma adenomas, CRC; 53y-CRC Right-sided; mulitple polyps MUTYH MUTYH 2 1 Astrid Out
00035111 MGZ, MŸnchen, DE - (Germany) - since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases) - - - adenoma - MUTYH MUTYH 2 6 Elke Holinski-Feder
00035112 MGZ, MŸnchen, DE - (Germany) - adenoma at age 28 - - - adenoma - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035479 Laboratoire d oncogenetique, APHP-GHPS, Paris, FR - France - - - - - adenoma duodenal adenomas; CC criteria A-; EGD 45y; 45y-ileoanal anastomosis; 45y-CRC; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 30 polyps MUTYH MUTYH 1 1 Chrystelle Colas
00035480 Laboratoire d oncogenetique, APHP-GHPS, Paris, FR F Congo - - - - - adenoma CC criteria A-; diagnosis: colorectal symptoms; colorectal phenotype attennuated; 2 polyps; adenomas sigmoid MUTYH MUTYH 2 1 Chrystelle Colas
00035481 Laboratoire d oncogenetique, APHP-GHPS, Paris, FR F France - - - - - adenoma diagnosis: call (screening); colorectal phenotype attennuated; 3 polyps MUTYH MUTYH 1 1 Chrystelle Colas
00035500 Genetique Moleculaires, CHRU, Lille, FR M France - - - - - adenoma diagnosis: colorectal symptoms; colorectal phenotype attennuated; 20-30 polyps MUTYH MUTYH 1 1 Marie-Pierre BUISINE
00035515 Molecular Medicine, AUH, Skejby, Aarhus, DK - Turkey - - - - - adenoma - MUTYH MUTYH 2 1 Mette Gaustadnes
00035517 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 7 polyps, several adenomas with dysplasia - - - adenoma 7 polyps MUTYH MUTYH 2 1 Mette Gaustadnes
00035540 Medical Genetics, UZ Gent, Gent, BE M Belgium - tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene - - - adenoma CC criteria B-; subtotal colectomy; colorectal phenotype attennuated MUTYH MUTYH 3 1 Kathleen Claes
00035544 Medical Genetics, UZ Gent, Gent, BE M Belgium - tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene - - - adenoma diagnosis: colorectal symptoms; colorectal phenotype attennuated; 10-100 polyps MUTYH MUTYH 1 1 Kathleen Claes
00035561 Clinical Genetics, Karolinska University Hospital, Stockholm, SE F Finland - - - - - adenoma - MUTYH MUTYH 1 1 Kristina Lagerstedt Robinson
00035844 Molecular Medicine, AUH, Skejby, Aarhus, DK M Denmark - - - - - adenoma - MUTYH MUTYH 2 1 Mette Gaustadnes
00036063 Clinical Genetics, ErasmusMC, Rotterdam, NL - (Netherlands) - - - - - adenoma - MUTYH MUTYH 2 1 Ans van den Ouweland
00036064 Clinical Genetics, ErasmusMC, Rotterdam, NL - (Netherlands) - - - - - adenoma - MUTYH MUTYH 2 1 Ans van den Ouweland
00036065 Clinical Genetics, ErasmusMC, Rotterdam, NL - (Netherlands) - - - - - adenoma - MUTYH MUTYH 1 1 Ans van den Ouweland
00036066 Clinical Genetics, ErasmusMC, Rotterdam, NL - (Netherlands) - - - - - adenoma - MUTYH MUTYH 1 1 Ans van den Ouweland
00036089 - M Spain - - - - - adenoma adenoma;CRC;polyposis; diagnosis: colorectal symptoms; colorectal phenotype classical MUTYH MUTYH 3 1 Elke Holinski-Feder
00036090 - - Spain - - - - - adenoma colorectal phenotype attennuated MUTYH MUTYH 1 1 sira moreno
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