Screening of HELQ in breast and ovarian cancer families

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dc.contributor.author Pelttari, Liisa M.
dc.contributor.author Kinnunen, Laura
dc.contributor.author Kiiski, Johanna I.
dc.contributor.author Khan, Sofia
dc.contributor.author Blomqvist, Carl
dc.contributor.author Aittomaki, Kristiina
dc.contributor.author Nevanlinna, Heli
dc.date.accessioned 2017-09-14T09:51:00Z
dc.date.available 2021-12-17T18:45:41Z
dc.date.issued 2016-01
dc.identifier.citation Pelttari , L M , Kinnunen , L , Kiiski , J I , Khan , S , Blomqvist , C , Aittomaki , K & Nevanlinna , H 2016 , ' Screening of HELQ in breast and ovarian cancer families ' , Familial Cancer , vol. 15 , no. 1 , pp. 19-23 . https://doi.org/10.1007/s10689-015-9838-4
dc.identifier.other PURE: 59631806
dc.identifier.other PURE UUID: 82fb3bc4-8eca-4a7f-b60f-0092fade8662
dc.identifier.other WOS: 000367594700002
dc.identifier.other Scopus: 84952863328
dc.identifier.other ORCID: /0000-0002-4089-7209/work/83053904
dc.identifier.uri http://hdl.handle.net/10138/223861
dc.description.abstract Several high and moderate risk alleles have been identified for breast and ovarian cancer predisposition and most of them encode proteins that function in DNA repair. A prospective candidate for breast and ovarian cancer susceptibility is the HELQ helicase that has a role in the resolution of DNA interstrand cross-links. HELQ interacts with the RAD51 paralog complex BCDX2. Two components of the complex, RAD51C and RAD51D, increase the risk of ovarian cancer especially, and the other two, RAD51B and XRCC2 have been associated with breast cancer risk. To investigate the role of HELQ in cancer predisposition, we screened the gene for germline variation in 185 Finnish breast or ovarian cancer families and performed haplotype analyses for 1517 breast cancer cases, 308 ovarian cancer cases, and 1234 population controls using five common polymorphisms at the HELQ gene locus. No truncating mutations were identified among the families. One putatively pathogenic missense mutation c.1309A > G was identified but no additional carriers were observed in the subsequent genotyping of 332 familial breast or ovarian cancer patients. Furthermore, the haplotype distribution did not differ between breast or ovarian cancer cases and population controls. Our results indicate that HELQ is not a major breast and ovarian cancer susceptibility gene in the Finnish population. However, we cannot rule out rare risk-variants in the Finnish or other populations and larger datasets are needed to further assess the role of HELQ especially in ovarian cancer predisposition. en
dc.format.extent 5
dc.language.iso eng
dc.relation.ispartof Familial Cancer
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject HELQ
dc.subject Breast cancer
dc.subject Ovarian cancer
dc.subject DNA repair
dc.subject BRCA2 MUTATIONS
dc.subject SUSCEPTIBILITY GENE
dc.subject RAD51 PARALOGS
dc.subject REPAIR
dc.subject TUMORIGENESIS
dc.subject RISK
dc.subject LOCI
dc.subject 3122 Cancers
dc.title Screening of HELQ in breast and ovarian cancer families en
dc.type Article
dc.contributor.organization Department of Obstetrics and Gynecology
dc.contributor.organization Clinicum
dc.contributor.organization Department of Oncology
dc.contributor.organization Medicum
dc.contributor.organization Kristiina Aittomäki / Principal Investigator
dc.contributor.organization Genome-Scale Biology (GSB) Research Program
dc.contributor.organization Research Programs Unit
dc.contributor.organization HUS Gynecology and Obstetrics
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1007/s10689-015-9838-4
dc.relation.issn 1389-9600
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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