Disease #00018

Official abbreviation polyps
Name polyps
OMIM ID -
Individuals reported having this disease 295
Phenotype entries for this disease 292
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues -
Disease features -
Remarks -


Individuals

295 entries on 3 pages. Showing entries 1 - 100.
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Disease     

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00002926 - F - - InSiGHT LOVDv2 ID:1016854; This data has been transferred from InSiGHT LOVDv2 database. - AMS-; - polyps - MSH6 MSH6 1 1 InSiGHT group
00003618 - F United States Asian/Native American - - mother CRC 70, brother brain tumor at 10 - CRC, polyps , 20-99 adenomatous polyps dx at 18 MSH2, MSH6 MSH2 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 MLH1, MSH2, MSH6, PMS2 MSH2 1 1 John Paul Plazzer
00022043 - F CN - InSiGHT LOVDv2 ID:1012062; Yes Additional info: yes; Pedigree available: yes; - polyps polyps MLH1 MLH1 1 1 Amie Blanco
00022250 - F - - MLH1 Methylation: Negative; Method: MS-MLPA;InSiGHT LOVDv2 ID:1013551; - AM II - polyps, cancer, endometrial , Polyps colon dx 41 MLH1 MLH1 1 1 InSiGHT group
00022618 - - - - InSiGHT LOVDv2 ID:1016656; - - - polyps 1 tubular adenoma in ascending colon, 1 sessile polyp hepatic flexure MLH1 MLH1 1 1 InSiGHT group
00022633 - M - - Last known age healthy/unknown disease: 45;InSiGHT LOVDv2 ID:1016687; - Bethesda (sporadic, multiple polyps) - polyps multiple adenomas (9) Last known age: 45y MLH1 MLH1 1 1 InSiGHT group
00022636 - M - - Last known age healthy/unknown disease: 35;InSiGHT LOVDv2 ID:1016690; - - - polyps Colon polyp. Last known age: 35y MLH1 MLH1 1 1 InSiGHT group
00022660 - F - - InSiGHT LOVDv2 ID:1016729; - Bethesda - polyps CO polyp-A MLH1 MLH1 1 1 InSiGHT group
00022661 - M - - InSiGHT LOVDv2 ID:1016730; - Bethesda - polyps CO polyp-A MLH1 MLH1 1 1 InSiGHT group
00022689 - - - - InSiGHT LOVDv2 ID:1016785; - Amsterdam - polyps Colorectal adenoma MLH1 MLH1 1 1 InSiGHT group
00026434 - M Australia - InSiGHT LOVDv2 ID:1013515; Yes revised bethesda IHC+MSI CRC, polyps , colorectal polyp MSH2 MSH2 1 1 InSiGHT group
00033700 - - - Netherlands - - - - polyps - APC APC 1 1 Anne Jansen
00033704 - - Netherlands - - - - - polyps - APC APC 1 1 Anne Jansen
00033705 - - Netherlands - - - - - polyps - APC APC 1 1 Anne Jansen
00033775 - M CA - - - Bethesda positive - polyps 2 TAs (43y), Multiple TAs (44,45y), 1 TA (54y), 2 TAs (60) GALNT12 GALNT12 1 1 Michael Woods
00033776 - F CA - - - Bethesda positive - polyps 1 hyperplastic polyp (60) GALNT12 GALNT12 1 1 Michael Woods
00033777 - M CA - - - Bethesda positive - polyps small polyps GALNT12 GALNT12 1 1 Michael Woods
00033778 - M CA - - - Bethesda positive - polyps 7 TAs (51y), 1 TA and 1 Hyperpl. (53 y) GALNT12 GALNT12 1 1 Michael Woods
00033780 - M CA - DNA was not available from two CRC affected sisters of the proband, although a son of one of them had CRC at age 57 years but did not carry the variant. - Bethesda positive - polyps 1 TA (57y) (ca in situ) GALNT12 GALNT12 1 1 Michael Woods
00034684 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034689 Sieber 2003; {OMIM604933:0002} F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034693 Sieber 2003; {OMIM604933:0002} M United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034695 Sieber 2003 F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034696 Sieber 2003 F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034704 Sieber 2003; {OMIM604933:0001} F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034708 Sieber 2003; {OMIM604933:0001} F United Kingdom (Great Britain) - - - - - polyps 3-100 polpys MUTYH MUTYH 1 1 Astrid Out
00034754 Nielsen 2005; Nielsen 2007; Nielsen 2009a; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps bladder carcinoma (60), other benign tumors (62), benign skin tumor; family history AR; no EGD; no CRC; diagnosis: colorectal symptoms; mulitple polyps MUTYH MUTYH 2 1 Carli Tops
00034759 Nielsen 2005; Nielsen 2009a; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - polyps family history AR; Breast cancer age 49, both sides (T1N0M0); No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 55y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps MUTYH MUTYH 2 1 Carli Tops
00034763 Nielsen 2005; Nielsen 2009a; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps >50 polyps; CRC none; stage; MSS; family history AR;; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 52y; No CRC; diagnosis: colorectal symptoms; 50 polyps MUTYH MUTYH 2 1 Carli Tops
00034767 Nielsen 2005; Nielsen 2009a; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - polyps family history Sporadic;; no EGD; no CRC; diagnosis: colorectal symptoms; 12 polyps MUTYH MUTYH 2 1 Carli Tops
00034768 Nielsen 2005; Nielsen 2007; Nielsen 2009a; Vogt 2009 F Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps family history AR; No duodenal polyps, No duodenal cancer, 1 fundic gland polyps; EGD 59y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps MUTYH MUTYH 2 1 Carli Tops
00034769 Nielsen 2005; Nielsen 2009a; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps family history Sporadic; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 37y; no CRC; diagnosis: colorectal symptoms; 10-100 polyps MUTYH MUTYH 2 1 Carli Tops
00034770 Nielsen 2005; Nielsen 2009a; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps family history AD; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 61y; no CRC; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00034773 Nielsen 2005; Nielsen 2007; Nielsen 2009a; Vogt 2009 F (Netherlands) - Among 170 APC negative Dutch FAP patients - - - polyps family history AR; No duodenal polyps, No duodenal cancer, No gastric polyps; EGD 47y; no CRC; diagnosis: colorectal symptoms; 50-100 polyps MUTYH MUTYH 2 1 Carli Tops
00034777 Nielsen 2005; Nielsen 2009a; Vogt 2009 M Netherlands - Carries APC variant (low risk, polymorphic): c.3920T>A, p.Ile1307Lys; Among 170 APC negative Dutch FAP patients - - - polyps family history Sporadic; died of disease other than cancer (42); no EGD; no CRC; diagnosis: colorectal symptoms; >15 polyps MUTYH MUTYH 2 1 Carli Tops
00034779 Nielsen 2005; Nielsen 2007; Nielsen 2009a F Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps family history AD;; No duodenal cancer, No gastric polyps; EGD 60y; no CRC; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00034785 Nielsen 2005;Nielsen 2009b; Vogt 2009 M Turkey - Among 170 APC negative Dutch FAP patients - - - polyps family history Sporadic; no EGD; no CRC; diagnosis: colorectal symptoms; 110-120 polyps MUTYH MUTYH 2 1 Carli Tops
00034787 Nielsen 2005; Nielsen 2007; Nielsen 2009a; Nielsen 2009b; Vogt 2009 F Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps splice site not recognized (fruitfly); no EGD; No CRC; diagnosis: colorectal symptoms; 10-50 polyps MUTYH MUTYH 2 1 Carli Tops
00034789 Nielsen 2005; Nielsen 2009a; Vogt 2009 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - polyps family history AD; benign skin tumor; duodenal polyps, No gastric polyps; EGD 36y; no CRC; diagnosis: colorectal symptoms; >100 polyps MUTYH MUTYH 2 1 Carli Tops
00034791 Nielsen 2005; Nielsen 2009a; Vogt 2009 M Netherlands - Among 170 APC negative Dutch FAP patients - - - polyps family history AD; no EGD; no CRC; diagnosis: colorectal symptoms; >100 polyps MUTYH MUTYH 2 1 Carli Tops
00034798 Nielsen 2009b;Clinical Genetics, LUMC, Leiden, NL F Turkey - - - - - polyps no EGD; no CRC MUTYH MUTYH 2 1 Carli Tops
00034805 Nielsen 2005 M (Netherlands) - Among 170 APC negative Dutch FAP patients - - - polyps 10-50 polyps; CRC none; family history AR; MUTYH MUTYH 1 1 Carli Tops
00034807 Nielsen 2005 M - - Among 170 APC negative Dutch FAP patients - - - polyps 10-50 polyps; CRC none; MSS; family history AD MUTYH MUTYH 1 1 Carli Tops
00034848 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype multiple polyps; mulitple polyps MUTYH MUTYH 2 1 Carli Tops
00034849 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype attennuated; 20-50 polyps MUTYH MUTYH 2 1 Carli Tops
00034868 Kanter-Smoler 2006 F Sweden;Iran Iran among 15 tested APC-mutation-negative polyposis patients; Iranian; variant not found in 96 Swedish controls - - - polyps Recessive inheritance; affected sister (polyps at age 23 y) homozygous; healthy brother wild-type; affected brother (CRC at age 29 y) not tested; one healthy sib not tested; normal duodenum; no CRC; 50 polyps; adenomas Left MUTYH MUTYH 2 1 Carli Tops
00034874 Clinical Genetics, LUMC, Leiden, NL - Netherlands - - - - - polyps diagnosis: colorectal symptoms; mulitple polyps MUTYH MUTYH 1 7 Carli Tops
00034875 Clinical Genetics, LUMC, Leiden, NL - Netherlands - - - - - polyps - MUTYH MUTYH 1 7 Carli Tops
00034880 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - polyps mulitple polyps MUTYH MUTYH 1 1 Carli Tops
00034883 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - polyps no CRC; diagnosis: colorectal symptoms; >30 polyps MUTYH MUTYH 1 1 Carli Tops
00034891 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - polyps no CRC; diagnosis: colorectal symptoms; 30-40 polyps MUTYH MUTYH 1 1 Carli Tops
00035027 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - polyps no CRC; diagnosis: colorectal symptoms; mulitple polyps MUTYH MUTYH 2 1 Carli Tops
00035028 Clinical Genetics, LUMC, Leiden, NL M Belgium - - - - - polyps polyposis MUTYH MUTYH 2 1 Carli Tops
00035029 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - polyps no CRC; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00035033 Vogt 2009; Nielsen 2009b; Clinical Genetics, LUMC, Leiden, NL M Netherlands - - - - - polyps 1 duodenal adenoma; No duodenal cancer; No gastric polyps; EGD 68y; No CRC; diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00035034 Vogt 2009; Nielsen 2009b; Clinical Genetics, LUMC, Leiden, NL M Netherlands - - - - - polyps relative of patient with homozygout p.Tyr179Cys; No duodenal polyps, No duodenal cancer, No gastric polyps; no CRC; diagnosis: colorectal symptoms; 10-20 polyps MUTYH MUTYH 2 1 Carli Tops
00035044 Clinical Genetics, LUMC, Leiden, NL F - North African? - - - - polyps >26 polyps MUTYH MUTYH 2 1 Carli Tops
00035048 Clinical Genetics, LUMC, Leiden, NL M Netherlands - - - - - polyps diagnosis: colorectal symptoms; polyposis MUTYH MUTYH 2 1 Carli Tops
00035050 Clinical Genetics, LUMC, Leiden, NL M Netherlands - - - - - polyps diagnosis: colorectal symptoms MUTYH MUTYH 2 1 Carli Tops
00035051 Clinical Genetics, LUMC, Leiden, NL M Netherlands - - - - - polyps 1 polyp in pouch; prostca:64; EGD 1 polyp; colectomy 46y; CRC sigmoid; polyposis MUTYH MUTYH 2 1 Carli Tops
00035054 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - polyps diagnosis: colorectal symptoms; >100 polyps MUTYH MUTYH 2 1 Carli Tops
00035055 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - polyps diagnosis: colorectal symptoms MUTYH MUTYH 2 1 Carli Tops
00035129 Gómez-Fernández 2009 - Spain Galician No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; <100 polyps MUTYH MUTYH 2 1 Astrid Out
00035130 Gómez-Fernández 2009 - Spain Galician Family: Two siblings and mother: CRC (age 50s); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-60 polyps MUTYH MUTYH 2 1 Astrid Out
00035132 Gómez-Fernández 2009 - Spain Galician Family: Sister: AFAP (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-100 polyps MUTYH MUTYH 2 1 Astrid Out
00035133 Gómez-Fernández 2009 - Spain Galician Family: Two siblings: AFAP+CRC (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; <100 polyps MUTYH MUTYH 2 1 Astrid Out
00035137 Gómez-Fernández 2009 - Spain Catalonian Family: Father: CRC (age?); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; 15-30 polyps MUTYH MUTYH 2 1 Astrid Out
00035139 Gómez-Fernández 2009 - Spain Catalonian Family: Father: CRC (age 40); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - - polyps No extracolonic disease; no CRC; colorectal phenotype attennuated; 40-50 polyps MUTYH MUTYH 2 1 Astrid Out
00035151 Ajith Kumar 2008 M India Gujarati (near Pakistan) Monozygotic twin brother: caecal adenocarcinoma (57) + multiple adenomas + small bowel adenocarcinoma (metastasis?); cousin of father bowel cancer (61) - - - polyps 63y-total colectomy; No CRC (but colectomy ~63); diagnosis: call (screening); >50 polyps MUTYH MUTYH 2 1 Astrid Out
00035173 Filipe 2009 - Portugal - 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - - polyps Histology: tubular adenomas (low-grade and high-grade dysplasia); Positive family histrory; Extracolonic features: no information; no CRC; colorectal phenotype attennuated; 30 polyps; adenomas Polyps in whole colon, mainly splenic flexure MUTYH MUTYH 2 1 Astrid Out
00035174 Filipe 2009 - Portugal - 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - - polyps Histology: tubular adenomas (low-grade and high-grade dysplasia); Positive family histrory, two generations, three patients; No duodenal tumors; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-100 polyps; adenomas Polyps in whole colon MUTYH MUTYH 2 1 Astrid Out
00035175 Filipe 2009 - Portugal - 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - - polyps Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, one generation, two patients; No duodenal tumors; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; ~30 polyps; adenomas Polyps in whole colon MUTYH MUTYH 2 1 Astrid Out
00035176 Filipe 2009 - Portugal - 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - - polyps Histology: tubular adenomas, low-grade dysplasia; Positive family histrory, two generations, three patients; Thyroid tumors; no osteomas; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; ~10 polyps; adenomas Polyps in whole colon, mainly right MUTYH MUTYH 2 1 Astrid Out
00035179 Filipe 2009 - Portugal - 0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations - - - polyps Histology: tubular adenomas, low-grade dysplasia; Negative family history; No osteomas; other extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-100 polyps; adenomas Polyps in whole colon, mainly left MUTYH MUTYH 2 1 Astrid Out
00035182 Filipe 2009 - Portugal - 0/39 patients with mulitple (3-99) adenomas APC mutation; 10/38 (26%): MUTYH mutations; 50-59 adenomas: 4/4 MUTYH mutations; 30-49 adenomas: 3/8 MUTYH mutations; 10-29 adenomas: 2/14 MUTYH mutations - - - polyps Histology: tubular adenomas (low-grade and high-grade dysplasia); Negative family history; Extracolonic features: no information; no CRC; colorectal phenotype attennuated; 50-70 polyps; adenomas Polyps in whole colon MUTYH MUTYH 2 1 Astrid Out
00035190 Riegert-Johnson 2007; Wang 2004 M United States - Riegert-Johnson et al. 2007: 229 with CRC < 50 y, MSS or MSI-L; 6 (3%) monoallelic; 4 (2%) biallelic; 12 also described by Wang et al. 2004: 116 with CRC <50 y; 2 (1.7%) monoallelic; 2 (1.7%) biallelic - - - polyps multiple sebaceous cysts; mother CRC third decade, ovarian cancer 70 y, two maternal aunts CRC 50 y; epidermoid cysts; 39y-CRC Rectum; colorectal phenotype attennuated; 12 polyps; adenomas descending colon + sigmoid MUTYH MUTYH 2 1 Astrid Out
00035197 Wang 2004 F United States - among 400 individuals without CRC, colonoscopy at average age 60 y (range 17-87). 4/313 (1.3%) with 0 polyps monoallelic for Tyr179Cys or Gly396Asp and 1/87 (1.1%) with 1-3 polyps monoallelic - - - polyps no CRC; colorectal phenotype attennuated; 2 polyps MUTYH MUTYH 1 1 Astrid Out
00035199 Wang 2004 M United States - among 444 CRC patients (62 MMR deficiency: no MUTYH mutations); 8/328 (2.4%) CRC 51 y or older monoallelic Tyr179Cys or Gly396Asp; 0/328 biallelic; 2/116 (1.7%) CRC 50 y or younger monoallelic Tyr179Cys or Gly396Asp, 2/116 (1.7%) biallelic - - - polyps polyps, CRC; colorectal phenotype classical; >150 polyps MUTYH MUTYH 1 1 Astrid Out
00035208 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps MUTYH MUTYH 2 1 Astrid Out
00035209 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype classical; 100-500 polyps MUTYH MUTYH 2 1 Astrid Out
00035210 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype multiple polyps; mulitple polyps MUTYH MUTYH 2 1 Astrid Out
00035211 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps MUTYH MUTYH 2 1 Astrid Out
00035212 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype classical; 100-500 polyps MUTYH MUTYH 2 1 Astrid Out
00035213 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype attennuated; 50-100 polyps MUTYH MUTYH 2 1 Astrid Out
00035214 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype attennuated; 50-100 polyps MUTYH MUTYH 2 1 Astrid Out
00035215 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC MUTYH MUTYH 2 1 Astrid Out
00035216 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps MUTYH MUTYH 2 1 Astrid Out
00035217 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps MUTYH MUTYH 2 1 Astrid Out
00035218 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype attennuated; 50-100 polyps MUTYH MUTYH 2 1 Astrid Out
00035219 Wang 2004 F United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype classical; 100-500 polyps MUTYH MUTYH 2 1 Astrid Out
00035220 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype classical; 100-500 polyps MUTYH MUTYH 2 1 Astrid Out
00035221 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype classical; Clinical FAP polyps MUTYH MUTYH 2 1 Astrid Out
00035222 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype classical; 100-500 polyps MUTYH MUTYH 1 1 Astrid Out
00035223 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype attennuated; 20-50 polyps MUTYH MUTYH 1 1 Astrid Out
00035224 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; no CRC; colorectal phenotype multiple polyps; mulitple polyps MUTYH MUTYH 1 1 Astrid Out
00035225 Wang 2004 M United States - among 140 APC mutation negative polyposis patients. 16/140 (11.4%) biallelic (0/26 with 4-19 polyps, 3/22 (13,6%) with 20-49 polyps, 3/15 (20%) with 50-99 polyps, 4/20 (20%) with 50-100 polyps); 4/140 (2.9%) monoallelic - - - polyps polyps, CRC; colorectal phenotype attennuated; 4-20 polyps MUTYH MUTYH 1 1 Astrid Out
00035239 Kairupan 2005 F Australia - among 120 APC mutation negative Australian polyposis patients - - - polyps No other cancers; Family members: female >10 polyps (32); no CRC; colorectal phenotype attennuated; >10 polyps MUTYH MUTYH 2 1 Astrid Out
00035241 Kairupan 2005 F Australia - among 120 APC mutation negative Australian polyposis patients - - - polyps No other cancers; no CRC MUTYH MUTYH 2 1 Astrid Out
00035242 Kairupan 2005 M Australia - among 120 APC mutation negative Australian polyposis patients - - - polyps No other cancers; Family members: male >100 polyps (34); no CRC; colorectal phenotype classical; >100 polyps MUTYH MUTYH 2 1 Astrid Out
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