Publication:
Identification of CHEK2 germline mutations in BRCA1/2- and PALB2-negative breast and ovarian cancer patients

dc.contributor.authorAksoy, Fuat
dc.contributor.authorTezcan Ünlü, Havva
dc.contributor.authorÇeçener, Gülşah
dc.contributor.authorGüney Eskiler, Gamze
dc.contributor.authorEgeli, Ünal
dc.contributor.authorTunca, Berrin
dc.contributor.authorEfendi Erdem, Ecem
dc.contributor.authorŞenol, Kazım
dc.contributor.authorGökgöz, Mustafa Şehsuvar
dc.contributor.buuauthorAKSOY, FUAT
dc.contributor.buuauthorTezcan Ünlü, Havva
dc.contributor.buuauthorÇEÇENER, GÜLŞAH
dc.contributor.buuauthorEGELİ, ÜNAL
dc.contributor.buuauthorTUNCA, BERRİN
dc.contributor.buuauthorEfendi Erdem, Ecem
dc.contributor.buuauthorŞENOL, KAZIM
dc.contributor.buuauthorGÖKGÖZ, MUSTAFA ŞEHSUVAR
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGenel Cerrahi Ana Bilim Dalı
dc.contributor.orcid0000-0001-5808-9384
dc.contributor.orcid0000-0002-0910-4258
dc.contributor.orcid0000-0002-3820-424X
dc.contributor.orcid0000-0001-7904-883X
dc.contributor.orcid0000-0002-1619-6680
dc.contributor.orcid0000-0001-6273-0664
dc.contributor.researcheridHII-8895-2022
dc.contributor.researcheridAAP-9988-2020
dc.contributor.researcheridGYU-0252-2022
dc.contributor.researcheridAAH-1420-2021
dc.contributor.researcheridABI-6078-2020
dc.contributor.researcheridGWP-6104-2022
dc.contributor.researcheridKGQ-4411-2024
dc.contributor.researcheridEWY-5692-2022
dc.date.accessioned2024-11-20T08:21:42Z
dc.date.available2024-11-20T08:21:42Z
dc.date.issued2022-08-01
dc.description.abstractIntroduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycle arrest in response to DNA damage. The mutations in this gene have been associated with a wide range of cancers, both sporadic and hereditary. Germline CHEK2 mutations are linked to an increased risk of breast cancer. Therefore, the aim of this study was to identify the prevalence of CHEK2 variants in BRCA1/2- and PALB2-negative early-onset patients with breast cancer and/or ovarian cancer in a Turkish population for the first time. Methods: The study included 95 patients with BRCA1/2- and PALB2-negative early-onset breast cancer and/or ovarian cancer and also 60 unaffected women. All the intron/exon boundaries and coding exons of CHEK2 were subjected to mutational analysis by heteroduplex analysis and DNA sequencing. Results: A total of 16 CHEK2 variants were found in breast cancer patients within the Turkish population. CHEK2 c.1100delC mutation most frequently studied in the CHEK2 gene was not detected in our study. The prevalence of variants of uncertain significance in CHEK2 was found to be 7.3% (n = 7) in BRCA1/2 and PALB2 mutation-negative Turkish patients with early-onset breast and/or ovarian cancer. Conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of the CHEK2 gene.
dc.identifier.doi10.1159/000521369
dc.identifier.endpage33
dc.identifier.issn0001-5652
dc.identifier.issue2
dc.identifier.startpage21
dc.identifier.urihttps://doi.org/10.1159/000521369
dc.identifier.urihttps://karger.com/hhe/article/87/2/21/823897/Identification-of-CHEK2-Germline-Mutations-in
dc.identifier.urihttps://hdl.handle.net/11452/48195
dc.identifier.volume87
dc.identifier.wos000860707000001
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherKarger
dc.relation.journalHuman Heredity
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetic variant
dc.subjectRisk
dc.subjectClassification
dc.subject1100delc
dc.subjectAllele
dc.subjectWomen
dc.subjectChek2 gene
dc.subjectEarly-onset breast cancer
dc.subjectC.1103a > g
dc.subjectVariant of uncertain significance
dc.subjectGenetics & heredity
dc.titleIdentification of CHEK2 germline mutations in BRCA1/2- and PALB2-negative breast and ovarian cancer patients
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Genel Cerrahi Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Biyoloji Ana Bilim Dalı
relation.isAuthorOfPublication9188647a-59b3-41bd-be73-594de198226a
relation.isAuthorOfPublicationae26ce61-4a33-4336-9fe3-b40d1138c397
relation.isAuthorOfPublication051cf631-d214-4c8f-b1f5-fa1d27d5269c
relation.isAuthorOfPublication121a3732-be5d-4aff-9195-357c8347daca
relation.isAuthorOfPublication9bebfccf-676e-4cad-a8bc-2fdca148d337
relation.isAuthorOfPublication7b478372-ad3a-4f0a-a336-3ebde58856eb
relation.isAuthorOfPublication.latestForDiscovery9188647a-59b3-41bd-be73-594de198226a

Files

Original bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Aksoy_vd_2022.pdf
Size:
935.54 KB
Format:
Adobe Portable Document Format

Collections