guest ::
| Home > Publications database > Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers. > print |
| Home > Publications database > Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers. > print |
| 001 | 294899 | ||
| 005 | 20250204094539.0 | ||
| 024 | 7 | _ | |a pmid:39654522 |2 pmid |
| 024 | 7 | _ | |a 0020-7136 |2 ISSN |
| 024 | 7 | _ | |a 1097-0215 |2 ISSN |
| 024 | 7 | _ | |a doi:10.1002/ijc.35283 |2 doi |
| 037 | _ | _ | |a DKFZ-2024-02609 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Försti, Asta |0 P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696 |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers. |
| 260 | _ | _ | |a Bognor Regis |c 2025 |b Wiley-Liss |
| 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 1738658695_22142 |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:B062# / 2025 Apr 1;156(7):1393-1403 |
| 520 | _ | _ | |a A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to identify novel CRC susceptibility genes, we whole-exome sequenced germline DNA from nine persons with a double primary CRC and a family history of CRC. The detected variants were processed by bioinformatics filtering and prioritization, including STRING protein-protein interaction and pathway analysis. A total of 150 missense, 19 stop-gain, 22 frameshift and 13 canonical splice site variants fulfilled our filtering criteria. The STRING analysis identified 20 DNA repair/cell cycle proteins as the main cluster, related to genes CHEK2, EXO1, FAAP24, FANCI, MCPH1, POLL, PRC1, RECQL, RECQL5, RRM2, SHCBP1, SMC2, XRCC1, in addition to CDK18, ENDOV, ZW10 and the known mismatch repair genes. Another STRING network included extracellular matrix genes and TGFβ signaling genes. In the nine whole-exome sequenced patients, eight harbored at least two candidate DNA repair/cell cycle/TGFβ signaling gene variants. The number of families is too small to provide evidence for individual variants but, considering the known role of DNA repair/cell cycle genes in CRC, the clustering of multiple deleterious variants in the present families suggests that these, perhaps jointly, contributed to CRC development in these families. |
| 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 DataCite, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a familial colorectal cancer |2 Other |
| 650 | _ | 7 | |a germline variant |2 Other |
| 650 | _ | 7 | |a multiple primaries |2 Other |
| 650 | _ | 7 | |a whole‐exome sequencing |2 Other |
| 700 | 1 | _ | |a Ambrozkiewicz, Filip |b 1 |
| 700 | 1 | _ | |a Marciniak, Magdalena |b 2 |
| 700 | 1 | _ | |a Lubinski, Jan |b 3 |
| 700 | 1 | _ | |a Hemminki, Kari |0 P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865 |b 4 |e Last author |u dkfz |
| 773 | _ | _ | |a doi:10.1002/ijc.35283 |0 PERI:(DE-600)1474822-8 |n 7 |p 1393-1403 |t International journal of cancer |v 156 |y 2025 |x 0020-7136 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:294899 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 0 |6 P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 4 |6 P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865 |
| 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 2024 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2023-10-21 |w ger |
| 915 | _ | _ | |a DEAL Wiley |0 StatID:(DE-HGF)3001 |2 StatID |d 2023-10-21 |w ger |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2023-10-21 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1190 |2 StatID |b Biological Abstracts |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2023-10-21 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b INT J CANCER : 2022 |d 2023-10-21 |
| 915 | _ | _ | |a IF >= 5 |0 StatID:(DE-HGF)9905 |2 StatID |b INT J CANCER : 2022 |d 2023-10-21 |
| 920 | 1 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l B062 Pädiatrische Neuroonkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)HD01-20160331 |k HD01 |l DKTK HD zentral |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)Z999-20160331 |k Z999 |l Erimitus im DKFZ |x 2 |
| 920 | 0 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l B062 Pädiatrische Neuroonkologie |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B062-20160331 |
| 980 | _ | _ | |a I:(DE-He78)HD01-20160331 |
| 980 | _ | _ | |a I:(DE-He78)Z999-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|