التفاصيل البيبلوغرافية
العنوان: |
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs |
المؤلفون: |
Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny, Lisa Devereux, Kaushalya C. Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H. Trainer, Kylie L. Gorringe, Paul A. James, Ian G. Campbell |
المصدر: |
Breast Cancer Research, Vol 20, Iss 1, Pp 1-11 (2018) |
بيانات النشر: |
BMC, 2018. |
سنة النشر: |
2018 |
المجموعة: |
LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
مصطلحات موضوعية: |
Familial breast cancer, Single-nucleotide polymorphism (SNP), Predisposition genes, Breast cancer susceptibility, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
الوصف: |
Abstract Background Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the expression of the associated genes, which potentially mediates risk modification. On this basis, we hypothesised that some of these genes may be enriched for rare coding variants associated with a higher breast cancer risk. Methods The coding regions and exon-intron boundaries of 56 genes that have either been proposed by GWASs to be the regulatory targets of the SNPs and/or located |
نوع الوثيقة: |
article |
وصف الملف: |
electronic resource |
اللغة: |
English |
تدمد: |
1465-542X |
Relation: |
http://link.springer.com/article/10.1186/s13058-017-0929-z; https://doaj.org/toc/1465-542X |
DOI: |
10.1186/s13058-017-0929-z |
URL الوصول: |
https://doaj.org/article/87e91e02038b476ca773dac090bf25d6 |
رقم الانضمام: |
edsdoj.87e91e02038b476ca773dac090bf25d6 |
قاعدة البيانات: |
Directory of Open Access Journals |