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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

机译：下一代测序检测波兰家族性乳腺癌/卵巢癌患者新的BRCA1 / 2复发突变

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BackgroundTargeted PCR-based genetic testing for BRCA1 and BRCA2 can be performed at a lower cost than full gene testing; however, it may overlook mutations responsible for familial breast and/or ovarian cancers. In the present study, we report the utility of next generation sequencing (NGS) to identify new pathogenic variants of BRCA1/2.

机译：背景技术针对BRCA1和BRCA2的基于PCR的基因检测可以比全基因检测的成本更低。但是，它可能忽略了导致家族性乳腺癌和/或卵巢癌的突变。在本研究中，我们报告了下一代测序（NGS）的实用程序，以识别BRCA1 / 2的新致病变异。

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期刊名称 BMC Medical Genomics
作者
Anna Kluska; Aneta Balabas; Agnieszka Paziewska; Maria Kulecka; Dorota Nowakowska; Michal Mikula; Jerzy Ostrowski;
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作者单位

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年(卷),期 2015(8),-1
年度 2015
页码 19
总页数 9
原文格式 PDF
正文语种
中图分类遗传学;
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专利

1. New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing [J] . Anna Kluska, Aneta Balabas, Agnieszka Paziewska, BMC Medical Genomics . 2015,第1期

机译：下一代测序检测波兰家族性乳腺癌/卵巢癌患者新的BRCA1 / 2复发突变
2. 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 [J] . Ratajska Magdalena, Krygier Magdalena, Stukan Maciej, Journal of Applied Genetics . 2015,第2期

机译：134例连续性卵巢癌患者中BRCA1 / 2的突变分析。下一代测序检测到的新型和复发性BRCA1 / 2改变
3. Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence [J] . DeJuanJiménezI., GarcíaCasadoZ., PalancaSuelaS., Familial cancer . 2013,第4期

机译：在巴伦西亚社区癌症的遗传咨询计划（西班牙东部）中发现了早期和家族性乳腺癌和卵巢癌中新出现的BRCA1 / BRCA2突变。家庭表型与突变发生率的关系
4. Deleterious mutation analysis of BRCA1 based on　clinicopathologic evidence in Chinese familial and sporadic Breast cancer by whole sequencing [C] . Rensheng Lai, Changle Zhu, Lin Xie, International Forum on Progress on Post-Genome Technologies(5'IFPT); 20070910-11; Suzhou(CN) . 2007

机译：基于临床病理证据的中国家族性和散发性乳腺癌BRCA1有害突变全序列分析
5. Dolo?anje Mutacij v Genih BRCA1/2 Iz citolo?kega Materiala Pri Raku jaj?nikov, Jajcevodov in Primarnem Peritonealnem Seroznem Karcinomu =BRCA1/2 mutation testing from cytological samples in patients with ovarian, tubal and primary peritoneal serous cancer [D] . Gornjec, Andreja. 2020

机译：从自我癌症中确定基因Krca1 / 2中的突变吗？
6. 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 [O] . Magdalena Ratajska, Magdalena Krygier, Maciej Stukan, -1

机译：一组134例连续卵巢癌患者中BRCA1 / 2的突变分析。下一代测序检测到的新型和复发性BRCA1 / 2改变
7. New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing [O] . Anna Kluska, Aneta Balabas, Agnieszka Paziewska, 2015

机译：下一代测序检测波兰家族性乳腺癌/卵巢癌患者新的BRCA1 / 2复发突变

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

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