guest ::
| Home > Publications database > Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer. > print |
| Home > Publications database > Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer. > print |
| 001 | 180055 | ||
| 005 | 20241230121008.0 | ||
| 024 | 7 | _ | |a 10.1007/s00438-022-01896-0 |2 doi |
| 024 | 7 | _ | |a pmid:35562597 |2 pmid |
| 024 | 7 | _ | |a 0026-8925 |2 ISSN |
| 024 | 7 | _ | |a 0372-8609 |2 ISSN |
| 024 | 7 | _ | |a 0372-901X |2 ISSN |
| 024 | 7 | _ | |a 1432-1874 |2 ISSN |
| 024 | 7 | _ | |a 1617-4615 |2 ISSN |
| 024 | 7 | _ | |a 1617-4623 |2 ISSN |
| 037 | _ | _ | |a DKFZ-2022-01054 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 570 |
| 100 | 1 | _ | |a Skopelitou, Diamanto |0 P:(DE-He78)cea283034a4f6c64994f85d4444e7494 |b 0 |e First author |
| 245 | _ | _ | |a Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer. |
| 260 | _ | _ | |a New York, NY |c 2022 |b Springer |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1677578504_27830 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #EA:C050#LA:C050# / 2022 Jul;297(4):965-979 |
| 520 | _ | _ | |a About 15% of colorectal cancer (CRC) patients have first-degree relatives affected by the same malignancy. However, for most families the cause of familial aggregation of CRC is unknown. To identify novel high-to-moderate-penetrance germline variants underlying CRC susceptibility, we performed whole exome sequencing (WES) on four CRC cases and two unaffected members of a Polish family without any mutation in known CRC predisposition genes. After WES, we used our in-house developed Familial Cancer Variant Prioritization Pipeline and identified two novel variants in the solute carrier family 15 member 4 (SLC15A4) gene. The heterozygous missense variant, p. Y444C, was predicted to affect the phylogenetically conserved PTR2/POT domain and to have a deleterious effect on the function of the encoded peptide/histidine transporter. The other variant was located in the upstream region of the same gene (GRCh37.p13, 12_129308531_C_T; 43 bp upstream of transcription start site, ENST00000266771.5) and it was annotated to affect the promoter region of SLC15A4 as well as binding sites of 17 different transcription factors. Our findings of two distinct variants in the same gene may indicate a synergistic up-regulation of SLC15A4 as the underlying genetic cause and implicate this gene for the first time in genetic inheritance of familial CRC. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a Familial colorectal cancer |2 Other |
| 650 | _ | 7 | |a Germline variant |2 Other |
| 650 | _ | 7 | |a SLC15A4 |2 Other |
| 650 | _ | 7 | |a Whole exome sequencing |2 Other |
| 700 | 1 | _ | |a Srivastava, Aayushi |0 P:(DE-He78)43b43c5f20ed70299251a446ad8ec973 |b 1 |
| 700 | 1 | _ | |a Miao, Beiping |0 P:(DE-He78)b5b786a7a28d851956ba90aa9451887a |b 2 |u dkfz |
| 700 | 1 | _ | |a Kumar, Abhishek |0 P:(DE-He78)da09d83faa85c143d15611698f7b1eac |b 3 |
| 700 | 1 | _ | |a Dymerska, Dagmara |b 4 |
| 700 | 1 | _ | |a Paramasivam, Nagarajan |b 5 |
| 700 | 1 | _ | |a Schlesner, Matthias |0 P:(DE-He78)f2a782242acf94a3114d75c45dc75b37 |b 6 |u dkfz |
| 700 | 1 | _ | |a Lubinski, Jan |b 7 |
| 700 | 1 | _ | |a Hemminki, Kari |0 P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865 |b 8 |u dkfz |
| 700 | 1 | _ | |a Försti, Asta |0 P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696 |b 9 |u dkfz |
| 700 | 1 | _ | |a Reddy Bandapalli, Obul |0 0000-0002-1132-1745 |b 10 |e Last author |
| 773 | _ | _ | |a 10.1007/s00438-022-01896-0 |0 PERI:(DE-600)1462070-4 |n 4 |p 965-979 |t Molecular genetics and genomics |v 297 |y 2022 |x 0026-8925 |
| 909 | C | O | |o oai:inrepo02.dkfz.de:180055 |p VDB |p OpenAPC |p openCost |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 0 |6 P:(DE-He78)cea283034a4f6c64994f85d4444e7494 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 1 |6 P:(DE-He78)43b43c5f20ed70299251a446ad8ec973 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 2 |6 P:(DE-He78)b5b786a7a28d851956ba90aa9451887a |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 3 |6 P:(DE-He78)da09d83faa85c143d15611698f7b1eac |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 6 |6 P:(DE-He78)f2a782242acf94a3114d75c45dc75b37 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 8 |6 P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 9 |6 P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 10 |6 0000-0002-1132-1745 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Krebsforschung |1 G:(DE-HGF)POF4-310 |0 G:(DE-HGF)POF4-312 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-300 |4 G:(DE-HGF)POF |v Funktionelle und strukturelle Genomforschung |x 0 |
| 914 | 1 | _ | |y 2022 |
| 915 | _ | _ | |a DEAL Springer |0 StatID:(DE-HGF)3002 |2 StatID |d 2021-01-27 |w ger |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2021-01-27 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1190 |2 StatID |b Biological Abstracts |d 2021-01-27 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2021-01-27 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1040 |2 StatID |b Zoological Record |d 2022-11-26 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b MOL GENET GENOMICS : 2021 |d 2022-11-26 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2022-11-26 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2022-11-26 |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |d 2022-11-26 |
| 915 | p | c | |a APC keys set |2 APC |0 PC:(DE-HGF)0000 |
| 915 | p | c | |a Local Funding |2 APC |0 PC:(DE-HGF)0001 |
| 920 | 1 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l B062 Pädiatrische Neuroonkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)W610-20160331 |k W610 |l Core Facility Omics IT |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)C050-20160331 |k C050 |l Molekular-Genetische Epidemiologie |x 2 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B062-20160331 |
| 980 | _ | _ | |a I:(DE-He78)W610-20160331 |
| 980 | _ | _ | |a I:(DE-He78)C050-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| 980 | _ | _ | |a APC |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|