Academic Journal

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

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
الوصف
تدمد:1465542X
DOI:10.1186/s13058-017-0929-z