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Wendt, CamillaKarolinska Institutet,Karolinska Institute,Department of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden,Karolinska Inst, Dept Clin Sci & Educ, Sodersjukhuset, Stockholm, Sweden.
(author)
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-07-20
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Springer Science and Business Media LLC,2021
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LIBRIS-ID:oai:lup.lub.lu.se:756e85d2-89c6-4498-bc7b-9f89a7da8958
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https://lup.lub.lu.se/record/756e85d2-89c6-4498-bc7b-9f89a7da8958URI
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https://doi.org/10.1038/s41598-021-93926-xDOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191030URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-455868URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-179187URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:147564284URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Funding Agencies|Stockholm County CouncilStockholm County Council; Karolinska InstitutetKarolinska Institutet; Cancer Foundation Finland; Sigrid Juselius FoundationSigrid Juselius Foundation; Helsinki University Hospital Research Fund
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The risk of breast cancer associated with CHEK2:c.1100delC is 2-threefold but higher in carriers with a family history of breast cancer than without, suggesting that other genetic loci in combination with CHEK2:c.1100delC confer an increased risk in a polygenic model. Part of the excess familial risk has been associated with common low-penetrance variants. This study aimed to identify genetic loci that modify CHEK2:c.1100delC-associated breast cancer risk by searching for candidate risk alleles that are overrepresented in CHEK2:c.1100delC carriers with breast cancer compared with controls. We performed whole-exome sequencing in 28 breast cancer cases with germline CHEK2:c.1100delC, 28 familial breast cancer cases and 70 controls. Candidate alleles were selected for validation in larger cohorts. One recessive synonymous variant, rs16897117, was suggested, but no overrepresentation of homozygous CHEK2:c.1100delC carriers was found in the following validation. Furthermore, 11 non-synonymous candidate alleles were suggested for further testing, but no significant difference in allele frequency could be detected in the validation in CHEK2:c.1100delC cases compared with familial breast cancer, sporadic breast cancer and controls. With this method, we found no support for a CHEK2:c.1100delC-specific genetic modifier. Further studies of CHEK2:c.1100delC genetic modifiers are warranted to improve risk assessment in clinical practice.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Muranen, Taru ADepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
(author)
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Mielikäinen, LottaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
(author)
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Thutkawkorapin, JessadaKarolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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Blomqvist, CarlDepartment of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, Helsinki, Finland.
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Jiao, XiangKarolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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Ehrencrona, HansDepartment of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.(Swepub:lu)med-hen
(author)
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Tham, EmmaKarolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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Arver, BritaKarolinska Institute,Department of Oncology-Pathology, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
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Melin, Beatrice S.Umeå universitet,Umeå University,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden.(Swepub:umu)bema0010
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Kuchinskaya, EkaterinaLinköpings universitet,Linköping University,Department of Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden,Linköping Univ, Dept Clin Genet, Dept Clin Expt Med, Linköping, Sweden.,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik(Swepub:liu)ekaku57
(author)
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Stenmark Askmalm, MarieLinköpings universitet,Linköping University,Department of Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden,Linköping Univ, Dept Clin Genet, Dept Clin Expt Med, Linköping, Sweden.,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik(Swepub:liu)marst93
(author)
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Paulsson-Karlsson, YlvaUppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden,Medicinsk genetik och genomik,Uppsala Univ, Sweden(Swepub:uu)ylvakarl
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Einbeigi, ZakariaDepartment of Oncology, Sahlgrenska University Hospital, Göteborg, Sweden,Sahlgrens Univ Hosp, Dept Oncol, S-41345 Gothenburg, Sweden.
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von Wachenfeldt Väppling, AnnaDepartment of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden,Karolinska Inst, Dept Clin Sci & Educ, Sodersjukhuset, Stockholm, Sweden.
(author)
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Kalso, EijaDepartment of Anaesthesiology, Intensive Care, and Pain Medicine, Helsinki University Hospital and University of Helsinki, Helsinki, Finland,Helsinki Univ Hosp, Dept Anaesthesiol Intens Care & Pain Med, Helsinki, Finland.;Univ Helsinki, Helsinki, Finland.
(author)
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Tasmuth, TiinaDepartment of Anaesthesiology, Intensive Care, and Pain Medicine, Helsinki University Hospital and University of Helsinki, Helsinki, Finland,Helsinki Univ Hosp, Dept Anaesthesiol Intens Care & Pain Med, Helsinki, Finland.;Univ Helsinki, Helsinki, Finland.
(author)
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Kallioniemi, AnneTAYS Cancer Centre and Faculty of Medicine and Health Technology, Tampere University; Fimlab Laboratories, Tampere University Hospital, Tampere, Finland,Tampere Univ, TAYS Canc Ctr, Tampere, Finland.;Tampere Univ Hosp, Fimlab Labs, Tampere, Finland.
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Aittomäki, KristiinaDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland,Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland.
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Nevanlinna, HeliDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
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Borg, ÅkeLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Department of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Medicon Village, Lund, Sweden,Lund Univ, Dept Oncol & Pathol, Dept Clin Sci Lund, Lund, Sweden.(Swepub:lu)onk-abo
(author)
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Lindblom, AnnikaKarolinska Institutet
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Karolinska InstituteDepartment of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden
(creator_code:org_t)
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In:Scientific Reports: Springer Science and Business Media LLC11, s. 1-92045-2322
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Wendt, Camilla
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Muranen, Taru A
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Mielikäinen, Lot ...
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Thutkawkorapin, ...
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Blomqvist, Carl
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Jiao, Xiang
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Ehrencrona, Hans
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Tham, Emma
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Arver, Brita
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Melin, Beatrice ...
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Kuchinskaya, Eka ...
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Stenmark Askmalm ...
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Paulsson-Karlsso ...
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Einbeigi, Zakari ...
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von Wachenfeldt ...
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Kalso, Eija
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Tasmuth, Tiina
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Kallioniemi, Ann ...
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Aittomäki, Krist ...
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Nevanlinna, Heli
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Borg, Åke
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