Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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+?/. - c.1147del r.(?) p.(Ala385fs) - Parent #2 - likely pathogenic g.45797374del g.45331702del - - MUTYH_000069 only 4 polypoid structures reported. PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+/. - c.1147del r.(?) p.(Ala385ProfsTer23) - Unknown - pathogenic g.45797374del g.45331702del MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 2 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Aceto 2005 - - Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Sieber 2003 - - Unknown - 1/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003 - M - United Kingdom (Great Britain) - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Bouguen 2007 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients F - France white - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Bouguen 2007 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - Netherlands - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Netherlands - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Nielsen 2005; PubMed: Middeldorp 2008; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Middeldorp 2008, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Nielsen 2005; PubMed: Nielsen 2007; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2007, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - (Netherlands) - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Piccioli 2006 - - Unknown - - - - - DNA SEQ - - ? PMID16455870_4 PubMed: Piccioli 2006 - - - Italy - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Olschwang 2007 - - Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - - Mediterranean - - - - 3 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC; 1103delC (Ala371ProfsX23) - MUTYH_000069 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1103delC;1105del (Ala371ProfsX23);(Ala369AlafsX26) - MUTYH_000069 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SSCA, TaqMan leukocyte Taqman 4 variants, screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 Family: Mother: Breast Cancer(66) Brother:2 CRC (age 46); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Catalonian - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) - MUTYH_000069 - PubMed: Filipe 2009 - - Germline - - - - - DNA SSCA, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Filipe 2009 39/48 FAP patients (>100 adenomas): APC mutation; 3/9 (33%) of APC negative FAP patients: MUTYH mutations - - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) - MUTYH_000069 - PubMed: Filipe 2009 - - Germline - - - - - DNA SSCA, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Filipe 2009 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1105delC; 1103delC (Ala371ProfsX23); (Ala368fs) - MUTYH_000069 - PubMed: Filipe 2009 - - Germline - - - - - DNA SSCA, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Filipe 2009 6/20 (30%) of AFAP patients (criteria Nielsen 2007) APC mutation; 8/14 (57%) of APC negatives: MUTYH mutations - - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1138delC (Ala371ProfsX23); Ala379fx401X - MUTYH_000069 - PubMed: Russell 2006 - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Russell 2006 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 F - Switzerland - - - - - 1 Karl Heinimann
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1138delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Dallosso 2008 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC - PubMed: Dallosso 2008 33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 M - United Kingdom (Great Britain);New Zealand - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1138delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Dallosso 2008 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC - PubMed: Dallosso 2008 33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 M - United Kingdom (Great Britain);New Zealand - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1138delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Dallosso 2008 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC - PubMed: Dallosso 2008 33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 M - United Kingdom (Great Britain);New Zealand - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_14 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_16 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 17219385_5_proband PubMed: Croitoru 2007, PubMed: O Shea 2008 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative F - (Canada);Italy Italy - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Croitoru 2007 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) ? 17219385_6 PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative F - (Canada);Italy Italy - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, test known variants (relative) CRC 17219385_5_nephew PubMed: Croitoru 2007, PubMed: O Shea 2008 Nephew of #1010680 M - Canada Italy - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 O Shea , 2008: description histopathology tumors biallelics, monoallelics and non-carriers; In contrast to Di Gregorio , 2006 MUTYH IHC: cytoplasmatic granular staining without nuclear staining not specificic for (biallelic) mutation carriers PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, test known variants (relative) CRC 17219385_5_nephew PubMed: Croitoru 2007, PubMed: O Shea 2008 Nephew of #1010680 M - Canada Italy - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: Croitoru 2007 - - Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16, test known variants (relatives) ? 17219385_5_relatives_1103del PubMed: Croitoru 2007 7 relatives of #1010680 with 1103delC/-: unaffected - - Canada Italy - - - - 7 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1103delC - MUTYH_000069 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-14 PubMed: Lefevre 2006 - M - France - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1103delC - MUTYH_000069 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-14 PubMed: Lefevre 2006 - M - France - - - - - 1 Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1103delC - MUTYH_000069 - PubMed: Cattaneo 2008 - - Unknown - 0/1290 - - - DNA PCRdig leukocyte test known variant (645 controls) ? - PubMed: Cattaneo 2008 645 healty controls - - Greece;Italy - - - - - - Carli Tops
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del (Ala371ProfsX23) - MUTYH_000069 - Medical Genetics, UZ Gent, Gent, BE - - Unknown - 1/182 - - - DNA SEQ leukocyte - ? - Medical Genetics, UZ Gent, Gent, BE tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene M - Belgium - - - - - 1 Kathleen Claes
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 7/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105delC (Ala371ProfsX23); Ala385ProfsX25 - MUTYH_000069 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (index) CRC - PubMed: De Ferro 2007 - F - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (index) CRC - PubMed: De Ferro 2007 - F - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #1 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (relative) ? - PubMed: De Ferro 2007 - F - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (relative) ? - PubMed: De Ferro 2007 - F - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (relative) ? - PubMed: De Ferro 2007 - - - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1103delC (Ala371ProfsX23) - MUTYH_000069 - PubMed: De Ferro 2007 - - Germline - - - - - DNA SSCA, SEQ - screen MUTYH gene (relative) ? - PubMed: De Ferro 2007 - - - Portugal - - - - - 1 Astrid Out
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - - - - Unknown - - - - - DNA SEQ leukocyte - cancer, colon - - - F - Brazil white - - - - 1 Giovana Torrezan
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Parent #2 - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index patient) ? - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - (Netherlands) - - - - - 1 Ans M.W. van den Ouweland
+/. 12 c.1147del r.(1147del) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del 1105del; 1105delC (Ala371ProfsX23) - MUTYH_000069 No effect on usage of alternative first exons PubMed: Plotz et al. 2012 - - Germline - - - - - DNA SEQ leukocyte - cancer, rectal - PubMed: Plotz 2012 - F - Germany - - - - - 1 Guido Plotz
+/. 12 c.1147del r.(?) p.(Ala385ProfsX23) - Unknown - pathogenic g.45797374del g.45331702del - - MUTYH_000069 - - - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - - - M - Spain - - - - - 1 Elke Holinski-Feder
+/. - c.1147del r.(?) p.(Ala385Profs*23) - Unknown - pathogenic g.45797374del g.45331702del - - MUTYH_000069 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - F - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1147del r.(?) p.(Ala385Profs*23) - Unknown - pathogenic g.45797374del g.45331702del disruptive variant - MUTYH_000069 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1147del r.(?) p.(Ala385Profs*23) - Unknown - pathogenic g.45797374del g.45331702del - - MUTYH_000069 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1147del r.(?) p.(Ala385Profs*23) - Unknown - pathogenic g.45797374del g.45331702del - - MUTYH_000069 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 18534194_glycosylase_1103delC - MUTYH_000069 In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 18534194_binding_1103delC - MUTYH_000069 DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 18534194_protein_1103delC - MUTYH_000069 Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_RNA_G396D_1147del - MUTYH_000069 RNA expression assay; Patient derived lymphoblastoid cell line; Q-RT-PCR; mRNA expression; mRNA levels similar to WT PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_survival_G396D_1147del - MUTYH_000069 In vivo survival assay; Patient derived lymphoblastoid cell line; cell survival after H2O2 and menadione (oxidative damage inducing) administration; No significant effect on cell survival compared with WT PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_western_G396D_1147del - MUTYH_000069 Protein expression assay; Patient derived lymphoblastoid cell line; protein expression, Western blot; Reduced protein levels (40ñ50% of WT levels); unexpectedly, no faster migrating protein band observed; residual protein level probablyfrom G396D allele PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_binding_G396D_1147del - MUTYH_000069 DNA binding assay; Patient derived lymphoblastoid cell line; UV A:GO and AO:G binding assay (relatively specific for MUTYH); Reduction in substate binding (similar to reduction in protein expression), 40-50% of WT; residual binding probably from G396D allele PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_glycosylase_G396D_1147del - MUTYH_000069 In vitro glycosylase assay; Patient derived lymphoblastoid cell line; Glycosylase assay for A:GO and AO:G; Strongly reduced A:GO and somewhat reduced AO:G glycosylase activity in comparison to WT; residual activity probably from G396D allele PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1147del r.(?) p.Ala385Profs*23 - Unknown - NA g.45797374del g.45331702del 15987719_complementation_G396D_1147del - MUTYH_000069 In vivo complementation assay; Patient derived lymphoblastoid cell line; complementation with WT nuclear or mitochondrial MUTYH cDNA; WT MUTYH complemented A:GO and AO:G cleavage function (so no apparent dominant negative effect of mutant MUTYH of cell line) PubMed: Parker 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1147del r.(?) p.(Ala385ProfsTer23) - Unknown ACMG pathogenic g.45797374del g.45331702del - - MUTYH_000069 ACMG grading: PVS1,PP5,PS4; ovarian cancer at age 72y, no informative family history; HBOC-12 gene panel negative result; reported in Ricci 2017. J Hum Genet 62: 309; Sieber 2003. N Engl J Med 348: 791 - - rs587778536 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.1147del r.(?) p.(Ala385ProfsTer23) - Unknown - pathogenic g.45797374del - MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23) - MUTYH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1147del r.(?) p.(Ala385Profs*23) - Parent #1 - NA g.45797374del - chr1_45797371_AG_A - MUTYH_000069 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 20/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 20 BRIDGES consortium
?/. - c.1147del r.(?) p.(Ala385Profs*23) - Parent #1 - NA g.45797374del - chr1_45797371_AG_A - MUTYH_000069 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
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