All individuals with variants in gene APC

4626 entries on 47 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     
00003655 - M Italy Caucasian - - Family members negative for attenuated FAP related tumors Daughter performed pancolonscopy, resulted negative Patient positive for attenuated FAP FAP-1 Pancolonscopy performed in 2007, 20014, 2015, detecting over 10 polyps (about 20) 1 1 Giulia Martina Cavestro, M.D., Ph.D.
00003666 - - India Asian - - - - CRC, polyposis - 1 1 Rajiv Sarin
00003667 - F India Asian - - - - CRC, FAP-1, polyposis - 1 1 Rajiv Sarin
00003668 - F India Asian - - history of polyposis, CRC and extracolonic manifestations in multiple members of family over three generations - CRC, FAP-1, polyposis - 1 1 Rajiv Sarin
00003671 - - India Asian - - - - CRC, polyposis - 1 1 Rajiv Sarin
00003672 - - India Asian - - - - - - 1 1 Rajiv Sarin
00003777 - M Spain Caucasian - - None Attenuated polyposis polyposis - 1 1 Esther Sarasola
00003916 - M - - - - - - polyposis Attenuated polyposis 1 1 Esther Sarasola
00028509 - F - - - - no family history of polyposis - polyposis individual with >50 adenomatous polyps 3 1 Michele Ciavarella
00028510 - M - - - - no family history of polyposis - polyposis Individual with >20 adenomatous polypos 1 1 Michele Ciavarella
00028511 - M - - - - no family history of polyposis - polyposis individual with >100 polypos 2 1 Michele Ciavarella
00028512 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >20 polyps, Proctocolectomy; 2 synchronous adenocarcinomas 1 1 Michele Ciavarella
00028513 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >50 polyps, Proctocolectomy; 2 synchronous adenocarcinomas 1 1 Michele Ciavarella
00028514 - M - - - - none - polyposis, cancer individual with >50 polyps, Urothelial Cancer 1 1 Michele Ciavarella
00028515 - F - - - - no family history of polyposis - polyposis individual with >150 adenomatous polyps 2 1 Michele Ciavarella
00028516 - F - - - Yes - - polyposis sporadic attenuated adenomatous polyposis 1 4 Michele Ciavarella
00028539 - - SPAIN CAUCASIAN - Yes - - polyposis - 1 1 sira moreno
00028546 - F - - - No - Family history Healthy/Control - 1 1 Esther Sarasola
00029097 Watson, submitted - - - - - - - - - 1 1 LOVD_Shared
00029098 Watson, submitted - - - - - - - - - 1 1 LOVD_Shared
00029099 Watson, submitted - - - - - - - - - 1 1 LOVD_Shared
00029100 - M Germany - - No - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029101 German HNPCC Consortium - Munich - Germany - - No - - FAP-1 no additional phenotype data available 1 1 Elke Holinski-Feder
00029102 German HNPCC Consortium - Munich - Germany - - Yes - - FAP-1 additional phenotype data available; polyps Cecum 1 1 Elke Holinski-Feder
00029103 Switzerland, Basel, Human Genetics, Department of Research, University Clinics - Switzerland - - No - - FAP-1 no additional phenotype data available; colorectal phenotype attenuated <100 polyps 1 1 Stefan Aretz
00029104 - F Germany - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 60 polyps 1 1 Stefan Aretz
00029105 - F Germany - - No - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029106 - F Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029107 Greece, Athens, Molecular Diagnostics Laboratory - Greece - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 50-100 polyps 1 1 Stefan Aretz
00029108 United Kingdom, London, Molecular and Population Genetics Laboratory, London Research Institute M ? (unknown) - - No - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 834 polyps 1 1 Stefan Aretz
00029109 Japan, Tokyo, Department of Biochemistry, Cancer Institute - ? (unknown) - - No - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029110 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps Colon descendens; colon cancer 57y, Rectum 1 1 Stefan Aretz
00029111 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum, Sigma, whole Colon; colon cancer 58y, 61y, 2x Sigma, Rectum 1 1 Stefan Aretz
00029112 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; colon cancer 67y, Rectum 1 1 Stefan Aretz
00029113 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <20 polyps Cecum, Colon ascendens; esophago-gastro-duodenoscopy age 44y; duodenal phenotypemultiple gastric polyps 1 1 Stefan Aretz
00029114 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 multiple epidermoid cysts 1 1 Stefan Aretz
00029115 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps Sigma, Colon ascendens; colon cancer 45y, 54y, Sigma, Rectum; esophago-gastro-duodenoscopy age 46y; duodenal phenotypemultiple gastric polyps 1 1 Stefan Aretz
00029116 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum, Colon ascendens; colon cancer 43y, Cecum, Colon ascendens 1 1 Stefan Aretz
00029117 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, few polyps Sigma 1 1 Stefan Aretz
00029118 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; multiple polyps entire colon 1 1 Stefan Aretz
00029119 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps Colon ascendens 1 1 Stefan Aretz
00029120 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps Colon ascendens; esophago-gastro-duodenoscopy age 39y; duodenal phenotypefew gastric polyps 1 1 Stefan Aretz
00029121 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype severe, thousands polyps entire colon; colon cancer 48y, Cecum 1 1 Stefan Aretz
00029122 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >400 polyps entire colon; colon cancer 37y, Sigma 1 1 Stefan Aretz
00029123 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps entire colon 1 1 Stefan Aretz
00029124 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <50 polyps entire colon 1 1 Stefan Aretz
00029125 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 20 polyps Sigma, Rectum 1 1 Stefan Aretz
00029126 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 15 polyps Rectum, Colon ascendens, Colon transversum 1 1 Stefan Aretz
00029127 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 50 polyps Sigma, Colon descendens 1 1 Stefan Aretz
00029128 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <10 polyps Colon ascendens, Colon descendens; esophago-gastro-duodenoscopy age 26y; duodenal phenotypemultiple gastric polyps 1 1 Stefan Aretz
00029129 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <25 polyps Cecum 1 1 Stefan Aretz
00029130 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <10 polyps Colon descendens 1 1 Stefan Aretz
00029131 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <20 polyps Colon descendens 1 1 Stefan Aretz
00029132 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 36 polyps Colon descendens; esophago-gastro-duodenoscopy age 24y; duodenal phenotypemultiple gastric polyps, ileal polyps 1 1 Stefan Aretz
00029133 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Colon ascendens 1 1 Stefan Aretz
00029134 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <10 polyps Rectum, Colon descendens; colon cancer 19y, Sigma 1 1 Stefan Aretz
00029135 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, few polyps entire colon; esophago-gastro-duodenoscopy age 26y; duodenal phenotypemultiple gastric polyps 1 1 Stefan Aretz
00029136 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 25 polyps Sigma, Colon descendens, Colon transversum 1 1 Stefan Aretz
00029137 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 20 polyps Colon ascendens 1 1 Stefan Aretz
00029138 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps entire colon 1 1 Stefan Aretz
00029139 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, hundreds polyps entire colon 1 1 Stefan Aretz
00029140 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, hundreds polyps entire colon 1 1 Stefan Aretz
00029141 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; >300 polyps entire colon 1 1 Stefan Aretz
00029142 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >200 polyps entire colon; esophago-gastro-duodenoscopy age 34y; duodenal polyps 1 1 Stefan Aretz
00029143 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps entire colon 1 1 Stefan Aretz
00029144 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; esophago-gastro-duodenoscopy age 15y; duodenal phenotypemultiple gastric polyps 1 1 Stefan Aretz
00029145 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 68y, Sigma 1 1 Stefan Aretz
00029146 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 150 polyps entire colon 1 1 Stefan Aretz
00029147 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Sigma, whole Colon, Rectum; colon cancer 45y, Rectum 1 1 Stefan Aretz
00029148 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 100 polyps entire colon 1 1 Stefan Aretz
00029149 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps Rectum to Colon transversum 1 1 Stefan Aretz
00029150 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps entire colon 1 1 Stefan Aretz
00029151 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, thousands polyps Rectum to Colon transversum 1 1 Stefan Aretz
00029152 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps Rectum to Cecum 1 1 Stefan Aretz
00029153 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps Colon descendens to Cecum 1 1 Stefan Aretz
00029154 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum to Colon ascendens; colon cancer 64y, Anorectal 1 1 Stefan Aretz
00029155 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps entire colon 1 1 Stefan Aretz
00029156 USA, Houston, Department of Cancer Biology, University of Texas - United States - - No - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029157 - M Germany - - Yes - symptoms FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps 1 1 Stefan Aretz
00029158 - M Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029159 - F Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029160 - M Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029161 - F Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029162 - F Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029163 - M Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029164 - M Germany - - Yes - - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00029165 - M Germany - - Yes - - FAP-1 no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps 1 1 Stefan Aretz
00029166 Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science F (Japan) - - No - - FAP-1 additional phenotype data available; colorectal phenotype attenuated <100 polyps 1 1 Stefan Aretz
00029167 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 750 polyps colon, rectum 1 1 Stefan Aretz
00029168 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype severe, >1000 polyps colon; duodenal polyps (HP:0004783) 1 1 Stefan Aretz
00029169 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 46 polyps colon, rectum 1 1 Stefan Aretz
00029170 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >100 polyps colon 1 1 Stefan Aretz
00029171 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps colon, rectum; colon cancer 51y 1 1 Stefan Aretz
00029172 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype atypical, >100 polyps colon, rectum 1 1 Stefan Aretz
00029173 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <10 polyps colon 1 1 Stefan Aretz
00029174 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >100 polyps colon, rectum 1 1 Stefan Aretz
00029175 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 1 1 Stefan Aretz
00029176 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer, colon descendens 1 1 Stefan Aretz
00029177 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 50 polyps entire colon; duodenal polyps 1 1 Stefan Aretz
00029178 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps entire colon 1 1 Stefan Aretz
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