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Sökning: onr:"swepub:oai:lup.lub.lu.se:756e85d2-89c6-4498-bc7b-9f89a7da8958" > A search for modify...

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

Wendt, Camilla (författare)
Karolinska Institutet,Karolinska Institute,Department of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden,Karolinska Inst, Dept Clin Sci & Educ, Sodersjukhuset, Stockholm, Sweden.
Muranen, Taru A (författare)
Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
Mielikäinen, Lotta (författare)
Department 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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Thutkawkorapin, Jessada (författare)
Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
Blomqvist, Carl (författare)
Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, Helsinki, Finland.
Jiao, Xiang (författare)
Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
Ehrencrona, Hans (författare)
Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, Lund, Sweden,Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.
Tham, Emma (författare)
Karolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
Arver, Brita (författare)
Karolinska Institute,Department of Oncology-Pathology, Karolinska Institutet, Solna, Stockholm, Sweden,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
Melin, Beatrice S. (författare)
Umeå universitet,Umeå University,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden.
Kuchinskaya, Ekaterina (författare)
Linköpings 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
Stenmark Askmalm, Marie (författare)
Linköpings 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
Paulsson-Karlsson, Ylva (författare)
Uppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden,Medicinsk genetik och genomik,Uppsala Univ, Sweden
Einbeigi, Zakaria (författare)
Department of Oncology, Sahlgrenska University Hospital, Göteborg, Sweden,Sahlgrens Univ Hosp, Dept Oncol, S-41345 Gothenburg, Sweden.
von Wachenfeldt Väppling, Anna (författare)
Department of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden,Karolinska Inst, Dept Clin Sci & Educ, Sodersjukhuset, Stockholm, Sweden.
Kalso, Eija (författare)
Department 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.
Tasmuth, Tiina (författare)
Department 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.
Kallioniemi, Anne (författare)
TAYS 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.
Aittomäki, Kristiina (författare)
Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland,Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland.
Nevanlinna, Heli (författare)
Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland,Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.
Borg, Åke (författare)
Lund 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.
Lindblom, Annika (författare)
Karolinska Institutet
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 (creator_code:org_t)
2021-07-20
2021
Engelska.
Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11, s. 1-9
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

Breast Neoplasms/genetics
Case-Control Studies
Checkpoint Kinase 2/genetics
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Multifactorial Inheritance
Sequence Deletion
Exome Sequencing/methods

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