Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

被引：0

作者：

Magdalena Ratajska

Magdalena Krygier

Maciej Stukan

Alina Kuźniacka

Magdalena Koczkowska

Mirosław Dudziak

Marcin Śniadecki

Jarosław Dębniak

Dariusz Wydra

Izabela Brozek

Wojciech Biernat

Ake Borg

Janusz Limon

Bartosz Wasąg

机构：

[1] Medical University of Gdansk,Department of Biology and Genetics

[2] Gdynia Oncology Center,Department of Gynecologic Oncology

[3] Medical University of Gdansk,Department of Gynaecology, Gynaecological Oncology and Gynaecological Endocrinology

[4] Medical University of Gdansk,Department of Pathomorphology

[5] Lund University,Department of Oncology, CREATE Health Strategic Center for Translational Cancer Research, Skane Department of Oncology

[6] Skane University Hospital,undefined

来源：

Journal of Applied Genetics | 2015年 / 56卷

关键词：

Mutations; Next generation sequencing; Ovarian cancer; PARP inhibitors;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9 %) mutations, where 65 % (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35 %) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41 %) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65 %) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered.

引用

页码：193 / 198

页数：5

共 485 条

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