دورية أكاديمية
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
| العنوان: | Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk |
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| المؤلفون: | Wilcox, N., Wahlström, C., Kvist, A., Simard, J. |
| المصدر: | Nature Genetics; 55(9), pp 1435-1439 (2023) ; ISSN: 1061-4036 |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2023 |
| المجموعة: | Lund University Publications (LUP) |
| مصطلحات موضوعية: | Medical Genetics, Cancer and Oncology, Exome, Exome Sequencing, Female, Humans, Mutation, Missense, Neoplasms, ATM protein, ATR protein, BRCA1 associated ring domain protein 1, BRCA1 protein, BRCA2 protein, checkpoint kinase 2, partner and localizer of BRCA2, adult, Article, breast cancer, cancer risk, cancer susceptibility, controlled study, gene frequency, gene identification, genetic association, genetic linkage, genetic susceptibility, genetic variability, human, lztr1 gene |
| الوصف: | Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10−6): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were also observed for LZTR1, ATR and BARD1 with P < 1 × 10−4. Associations between predicted deleterious rare missense or protein-truncating variants and breast cancer were additionally identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small. © 2023, The Author(s). |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| ردمك: | 978-85-16-83887-4 85-16-83887-0 |
| العلاقة: | https://lup.lub.lu.se/record/69c36c9b-10ee-4f40-8800-b6aec24ba791Test; http://dx.doi.org/10.1038/s41588-023-01466-zTest; scopus:85168388705; pmid:37592023 |
| DOI: | 10.1038/s41588-023-01466-z |
| الإتاحة: | https://doi.org/10.1038/s41588-023-01466-zTest https://lup.lub.lu.se/record/69c36c9b-10ee-4f40-8800-b6aec24ba791Test |
| رقم الانضمام: | edsbas.3BB68EFF |
| قاعدة البيانات: | BASE |
| ردمك: | 9788516838874 8516838870 |
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| DOI: | 10.1038/s41588-023-01466-z |