The Matter of Clinical Sequencing for Familial Breast Cancer: The route from Sanger to Next Generation

被引：0

作者：

Eryilmaz, Isil Ezgi ^{[1
]}

Eskiler, Gamze Guney ^{[2
]}

Cecener, Gulsah ^{[1
]}

Egeli, Unal ^{[1
]}

Tunca, Berrin ^{[1
]}

机构：

[1] Uludag Univ, Dept Med Biol, Fac Med, Bursa, Turkey

[2] Sakarya Univ, Dept Med Biol, Fac Med, Sakarya, Turkey

来源：

2017 IEEE INTERNATIONAL CONFERENCE ON E-HEALTH AND BIOENGINEERING CONFERENCE (EHB) | 2017年

关键词：

Familial breast cancer; Sanger sequencing; next generation sequencing; EARLY-ONSET; INHERITED MUTATIONS; DNA-REPAIR; RISK; BRCA1; ASSOCIATION; VARIANTS; PALB2;

D O I：

暂无

中图分类号：

TP39 [计算机的应用];

学科分类号：

081203 ; 0835 ;

摘要：

We mentioned the importance of clinical sequence analysis in risk determination, diagnostic and therapeutic process of familial breast cancer and we also summarized next generation sequencing applications in this cancer type. In conclusion, BRCA1/2 genes mutations are associated with an increasing the risk of particularly familial breast cancer. However, sequencing of moderate penetrance genes and/or whole exome could also fill large knowledge gaps in explaining genetic predisposition of breast cancer.

引用

页码：181 / 184

页数：4

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