مورد إلكتروني
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
| العنوان: | Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition |
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| بيانات النشر: | Springer Nature 2023 |
| تفاصيل مُضافة: | Kumpula, T. A. (Timo A.) Koivuluoma, S. (Susanna) Soikkonen, L. (Leila) Vorimo, S. (Sandra) Moilanen, J. (Jukka) Winqvist, R. (Robert) Mantere, T. (Tuomo) Kuismin, O. (Outi) Pylkäs, K. (Katri) |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer. One of these is CHEK2 c.1312 G > T, p.(Asp438Tyr) in the kinase domain of the protein, but due to its rarity its clinical significance for breast cancer predisposition has remained unclear. Here, we tested the prevalence of CHEK2 p.(Asp438Tyr) allele showing enrichment in the Northern Finnish population, in a total of 2284 breast cancer patients from this geographical region. Genotyping was performed for DNA samples extracted from peripheral blood using high-resolution melt analysis. Fourteen CHEK2 p.(Asp438Tyr) carriers were identified (14/2284, 0.6%, P = 0.67): two in the cohort of breast cancer cases with the indication of inherited disease susceptibility (2/281, 0.7%, P = 1.00) and twelve in the breast cancer cohort unselected for the family history of disease and age at disease onset (12/2003, 0.6%, P = 0.66). This frequency did not differ from the frequency in the general population (10/1299, 0.8%). No CHEK2 p.(Asp438Tyr) homozygotes were identified. Our results indicate that CHEK2 p.(Asp438Tyr) carriers do not have an increased risk for breast cancer and the classification of the CHEK2 p.(Asp438Tyr) variant can be changed from the variant of uncertain significance (VUS) to likely benign for breast cancer. |
| مصطلحات الفهرس: | Breast cancer, CHEK2, Cohort study, Hereditary predisposition, p.(Asp438Tyr) variant, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion |
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| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess © The Author(s) 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0Test/. https://creativecommons.org/licenses/by/4.0Test |
| ملاحظة: | application/pdf English |
| أرقام أخرى: | OUX oai:oulu.fi:nbnfi-fe2023053150883 urn:nbn:fi-fe2023053150883 1383732557 |
| المصدر المساهم: | UNIV OF OULU From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1383732557 |
| قاعدة البيانات: | OAIster |
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