- Title
- Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population
- Creator
- Rogoza-Janiszewska, Emilia; Malinska, Karolina; Górski, Bohdan; Scott, Rodney J.; Cybulski, Cezary; Kluzniak, Wojciech; Lener, Marcin; Jakubowska, Anna; Gronwald, Jacek; Huzarski, Tomasz; Lubinski, Jan; Debniak, Tadeusz
- Relation
- Breast Cancer Vol. 28, Issue 1, p. 226-235
- Publisher Link
- http://dx.doi.org/10.1007/s12282-020-01151-7
- Publisher
- Springer
- Resource Type
- journal article
- Date
- 2021
- Description
- Background: The objective of this study was to determine spectrum and prevalence of germline mutations in TP53 gene among Polish women with early-onset breast cancer (BC), which has not been determined until now. Methods: A cohort of 100 females with BC diagnosed ≤ 30 years of age and with a positive family history of cancer was used as a discovery cohort. 1880 women with BC ≤ 45 years old and a control group of 2000 healthy women were genotyped as a replication phase of this study. Results: Four heterozygous pathogenic missense mutations were detected in a group of 100 patients with early-onset breast cancer. On the basis of software prediction and available literature data, all these variants were defined as pathogenic. None of these TP53 variants were detected among 1880 breast cancer patients and 2000 healthy controls. No large mutations were found among early-onset cases using MLPA reaction. Conclusion: Germline pathogenic TP53 variants were found in 4% early-onset Polish BC patients. No founder mutations were identified in Polish population. To improve the treatment and surveillance screening, the search for germline TP53 pathogenic variants is recommended for all female BC cases diagnosed ≤ 30 years old.
- Subject
- TP53; early-onset breast; cancer; li-fraumeni; mutation; SDG 3; Sustainable Development Goals
- Identifier
- http://hdl.handle.net/1959.13/1461566
- Identifier
- uon:46235
- Identifier
- ISSN:1340-6868
- Rights
- © The Author(s) 2020. 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/4.0/.
- Language
- eng
- Full Text
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