Full data view for gene MUTYH


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

167 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.972G>C r.(?) p.(Gln324His) - Unknown - benign g.45797505C>G g.45331833C>G - - MUTYH_000063 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1014G>C r.(?) p.(Gln338His) - Unknown - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1014G>C r.(?) p.(Gln338His) - Unknown - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1014G>C r.(?) p.(Gln338His) - Unknown - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1014G>C r.(?) p.(Gln338His) - Unknown - benign g.45797505C>G g.45331833C>G MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H) - MUTYH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - DUPLICATE – to be removed - rs3219489 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Görgens 2006 - rs3219489 Unknown - 11/50 (22%) HNPCC patients (42/50 <50 years); (35.3% of 116 controls) - - - DNA SEQ - - cancer, colon - PubMed: Görgens 2006 - - - Germany white - - - - 11 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Görgens 2006 - rs3219489 Unknown - - - - - DNA SEQ - - ? - PubMed: Görgens 2006 5,2% of 116 controls; (0/50 HNPCC patients (42/50 <50 years)) - - Germany white - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_16 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 15523092_controls_Q342H PubMed: Croitoru 2004 - - - Canada - - - - - 5 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Shin 2007 - rs3219489 Unknown - 12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family) - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Shin 2007 - rs3219489 Unknown - 12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family) - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Shin 2007 - rs3219489 Unknown - 12% of 26 patients (5: 2 1st-dgr relatives with CRC; 15: 1 1st-dgr relative; 9: CRC in 2nd-dgr family) - - - DNA SEQ - - cancer, prostate - PubMed: Shin 2007 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Alhopuro 2005 - rs3219489 Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Alhopuro 2005 7/24 individuals (22 families). FAP: 19, AFAP: 3 - - Finland - - - - - 7 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Alhopuro 2005 - rs3219489 Unknown - 1/24 individuals (22 families). FAP: 19, AFAP: 3 - - - DNA SEQ - - cancer, colon - PubMed: Alhopuro 2005 - - - Finland - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Fleischmann 2004 - rs3219489 Unknown - - - - - DNA CSCE, DHPLC, SEQ - - ? PMID14991577_5 PubMed: Fleischmann 2004 - - - (United Kingdom (Great Britain)) - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Shinmura 2001 - rs3219489 Unknown - - - - - DNA SSCA, SEQ - - - PMID11295288_1 PubMed: Shinmura 2001 among cancerous tissues of 55 unrelated lungcancer patients - - Japan - - - - - 50 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Halford 2003 - rs3219489 Unknown - 0.21 - - - DNA SEQ - - ? PMID12707038_1 PubMed: Halford 2003 - - - - - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Fleischmann 2004 - rs3219489 Unknown - 0.29 - - - DNA SEQ - - ? PMID14991577_8 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Isidro 2004 - rs3219489 Unknown - 0.17 - - - DNA SEQ - - ? PMID15366000_3 PubMed: Isidro 2004 - - - - - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Clinical Genetics, LUMC, Leiden, NL - rs3219489 Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2007b; Clinical Genetics, LUMC, Leiden, NL Deletion entire APC gene F - Netherlands - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Al-Tassan 2002 - rs3219489 Unknown - - - - - DNA DHPLC - - ? PMID11818965_control4 PubMed: Al-Tassan 2002 24% allele frequency in 100 controls - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Al-Tassan 2002 - rs3219489 Unknown - - - - - DNA DHPLC - - CRC PMID11818965_CRC2 PubMed: Al-Tassan 2002 24% allele frequency in 42 individuals with CRC 40 y or younger or one or more first degree relatives with CRC - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Al-Tassan 2002 - rs3219489 Unknown - - - - - DNA DHPLC - - ? PMID11818965_AFAP2 PubMed: Al-Tassan 2002 24% allele frequency in 16 indiduals with 3-50 adenomas with or without carcinoma - - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Olschwang 2007 - rs3219489 Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - - - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Küry 2007 - rs3219489 Unknown - - - - - DNA SEQ - - CRC - PubMed: Küry 2007 20% of 100 sporadic CRC patients - - France white - - - - 19 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Küry 2007 - rs3219489 Unknown - - - - - DNA SEQ - - CRC - PubMed: Küry 2007 1 of 100 sporadic CRC patients - - France white - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Küry 2007 - rs3219489 Unknown - - - - - DNA SEQ - - CRC - PubMed: Küry 2007 1 of 100 sporadic CRC patients - - France white - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Clinical Genetics, LUMC, Leiden, NL - rs3219489 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Clinical Genetics, LUMC, Leiden, NL - rs3219489 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Clinical Genetics, LUMC, Leiden, NL - rs3219489 Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Tao 2008 - rs3219489 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - - - - 78 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Tao 2008 - rs3219489 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - - - - 64 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Tao 2008 - rs3219489 Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 413 (60.3%) heterozygote or homozygote among 685 CRC patients; Haplotype 34.6% - - Japan - - - - - 413 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Tao 2008 - rs3219489 Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 499 (64.1%) heterozygote or homozygote among 778 control subjects; Haplotype 38.9% - - Japan - - - - - 499 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - - - rs3219489 Unknown - - - - - DNA SEQ - - ? - - no known clinic, predictive - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - - - rs3219489 Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany diverticulosis, suspicious of Lynch-Syndrome, carcinogenic polyps of the rectum - - (Germany) - - - - - 1 Elke Holinski-Feder
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - - - rs3219489 Unknown - - - - - DNA SEQ - - cancer, colon - - 2 siblings diagnosed with colon carcinoma at age 55, a sister has had multiple adenomas extracted over time, patient had adenoma herself, father died at the age of 70 due to carcinoma of colon and stomach F - (Germany) - - - - - 2 Elke Holinski-Feder
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Agalliu 2009 - rs3219489 Unknown - - - - - DNA SEQ leukocyte allelic discrimination, test known variant (group) failed ? - PubMed: Agalliu 2009 - - - - - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Kim 2004 - rs3219489 Unknown - - - - - DNA DHPLC, SSCA, SEQ - screen MUTYH gene (group) CRC 15449173_1 PubMed: Kim 2004 Among 246 sporadic CRC patients - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Kairupan 2005 - rs3219489 Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC 15761860_12 PubMed: Kairupan 2005 among 120 APC mutation negative Australian polyposis patients M - Australia - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Kairupan 2005 - rs3219489 Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? 15761860_16 PubMed: Kairupan 2005 among 120 APC mutation negative Australian polyposis patients F - Australia - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 42,6% of n=84 - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_6 PubMed: Zhou 2005 42,6% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 82/376 (22%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_controls_het PubMed: Zhou 2005 64/188 (34,0%) Swedish controls (blood donors) - - Sweden - - - - - 64 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 82/376 (22%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_controls_hom PubMed: Zhou 2005 9/188 (4,8%) Swedish controls (blood donors) - - Sweden - - - - - 9 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 82/376 (22%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_controls_hom PubMed: Zhou 2005 9/188 (4,8%) Swedish controls (blood donors) - - Sweden - - - - - 9 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 174/824 (21%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 15943555_patients_het PubMed: Zhou 2005 128/412 (31.1%) Swedish sporadic CRC patients - - Sweden - - - - - 128 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 174/824 (21%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 15943555_patients_hom PubMed: Zhou 2005 23/412 (5,6%) Swedish sporadic CRC patients - - Sweden - - - - - 23 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Zhou 2005 - rs3219489 Unknown - 174/824 (21%) - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 15943555_patients_hom PubMed: Zhou 2005 23/412 (5,6%) Swedish sporadic CRC patients - - Sweden - - - - - 23 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 17% of alleles PubMed: Russell 2006 - rs3219489 Unknown - 17% of alleles - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (group) CRC 16287072_c1014_patients PubMed: Russell 2006 Among 79 Swiss APC mutation negative polyposis patients - - Switzerland - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 12% of alleles PubMed: Russell 2006 - rs3219489 Unknown - 12% of alleles - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (group) ? 16287072_c1014_controls PubMed: Russell 2006 Among 100 Swiss controls - - Switzerland - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Lejeune 2006 - rs3219489 Unknown - - - - - DNA SEQ - SEQ (ex1-16), screen MUTYH gene (index) CRC 16941501_c1014 PubMed: Lejeune 2006 Found among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect - - France - - - - - 1 Carli Tops
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_patients_het PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_patients_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_patients_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_controls_het PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_controls_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Detected homozygous and heterozygous among 143 multiple adenoma patients; numbers not given PubMed: Kim 2007 - rs3219489 Germline - - - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) ? 17252231_Q324H_controls_hom PubMed: Kim 2007 Analysis of 143 Korean patients with multiple colorectal adenomas (2 or more) of 116 which also invasive carcinoma and 31 multiple primary cancers; and 300 healthy Korean controls - - Korea, South (Republic) - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Yanaru-Fujisawa 2008 - rs3219489 Germline - 45/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219489 Unknown - 40/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1014_hom PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 9 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219489 Unknown - 40/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1014_hom PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 9 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219489 Unknown - 40/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1014_het PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 22 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_18 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_19 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_21 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_22 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_23 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_24 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_38 PubMed: Croitoru 2004 - M - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 Q324H in 9/29 monoallelic Y165C or G382D carrying patients, 5/21 monoallelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219489 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_39 PubMed: Croitoru 2004 - F - Canada - - - - - 1 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Croitoru 2007 - rs3219489 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_Q324H_hom PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 2 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Croitoru 2007 - rs3219489 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_Q324H_hom PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 2 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His); Q324H - MUTYH_000063 - PubMed: Croitoru 2007 - rs3219489 Germline - - - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) ? 17219385_Q324H_het PubMed: Croitoru 2007 Among 20 patients with 10-100 synchronous adenomatous polyps; APC mutation negative - - Canada - - - - - 5 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #1 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Goto 2008 - rs3219489 Unknown - 22/46 alleles - - - DNA SEQ FFPE, non-cancerous gastric mucosa ex 1-16 screen MUTYH gene (group) cancer, gastric - PubMed: Goto 2008 Among 23 Japanese gastric cancer patients - - Japan - - - - - 5 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Parent #2 - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Goto 2008 - rs3219489 Unknown - 22/46 alleles - - - DNA SEQ FFPE, non-cancerous gastric mucosa ex 1-16 screen MUTYH gene (group) cancer, gastric - PubMed: Goto 2008 Among 23 Japanese gastric cancer patients - - Japan - - - - - 5 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Goto 2008 - rs3219489 Unknown - 22/46 alleles - - - DNA SEQ FFPE, non-cancerous gastric mucosa ex 1-16 screen MUTYH gene (group) cancer, gastric - PubMed: Goto 2008 Among 23 Japanese gastric cancer patients - - Japan - - - - - 12 Astrid Out
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - 1 Mette Gaustadnes
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - 1 Mette Gaustadnes
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte - ? - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - 1 Mette Gaustadnes
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte screen MUTYH gene (index, group) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - 4 Mette Gaustadnes
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - 1 Mette Gaustadnes
?/. 12 c.1014G>C r.(1014g>c) p.(Gln338His) - Unknown - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - 1 Mette Gaustadnes
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