Detection of BRCA1/2 Large Genomic Rearrangement including BRCA1 Promoter-Region Deletions using Next-Generation Sequencing.

[1]  Leslie Burke,et al.  Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition , 2018, Cancers.

[2]  Joonhong Park,et al.  Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea , 2017, BMC Medical Genetics.

[3]  P. Ainsworth,et al.  Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. , 2016, The Journal of molecular diagnostics : JMD.

[4]  Andrew J Wallace,et al.  New challenges for BRCA testing: a view from the diagnostic laboratory , 2016, European Journal of Human Genetics.

[5]  Z. Dong.  Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements , 2015 .

[6]  Hiroshi Kobayashi,et al.  Hereditary breast and ovarian cancer susceptibility genes (review). , 2013, Oncology reports.

[7]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[8]  Roberto Giugliani,et al.  Genomic rearrangements in BRCA1 and BRCA2: A literature review , 2009, Genetics and molecular biology.

[9]  Dieter Niederacher,et al.  MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early‐onset cases , 2008, Human mutation.

[10]  T. Walsh,et al.  Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. , 2006, JAMA.

[11]  E. Grzybowska,et al.  Functional Impact of Sequence Alterations Found in BRCA1 Promoter/5'UTR Region in Breast/Ovarian Cancer Families from Upper Silesia, Poland , 2006, Hereditary cancer in clinical practice.

[12]  Thierry Soussi,et al.  UMD (Universal Mutation Database): 2005 update , 2005, Human mutation.

[13]  I. Fokkema,et al.  LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach , 2005, Human mutation.

[14]  S. Mazoyer.  Genomic rearrangements in the BRCA1 and BRCA2 genes , 2005, Human mutation.

[15]  M. King,et al.  Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 , 2003, Science.

[16]  P. Stenson,et al.  Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.

[17]  L. Chieco‐Bianchi,et al.  Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. , 2003, Human molecular genetics.

[18]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[19]  D. Stoppa-Lyonnet,et al.  Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. , 2002, American journal of human genetics.

[20]  M. Skolnick,et al.  Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. , 1997, Human molecular genetics.

[21]  Chun-Fang Xu,et al.  Complex Regulation of the BRCA1 Gene* , 1997, The Journal of Biological Chemistry.

[22]  B. Porfirio,et al.  Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection. , 2018, The Journal of molecular diagnostics : JMD.

[23]  Joonhong Park,et al.  Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. , 2017, Clinica chimica acta; international journal of clinical chemistry.

[24]  Genome analysis Advance Access publication April 2, 2012 CONTRA: copy number analysis for targeted resequencing , 2011 .

[25]  E. V. Rensburg,et al.  Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation , 2010, Breast Cancer Research and Treatment.