Gene Sequencing ~ Techniques / Technology
~ Genetics of Breast & Ovarian Cancer

Technical aspects of single-gene (mostly BRCA1/2) testing, including techniques for non-standard gene features such as introns, rearrangements, CNVs, indels (insertions/deletions), alternative splicing, SNPs, etc.

List was last updated on Nov 20, 2019 @ 7:58 am.


    • Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data.
    • Nicolussi A, Belardinilli F, Silvestri V, Mahdavian Y, Valentini V, D'Inzeo S, Petroni M, Zani M, Ferraro S, Di Giulio S, Fabretti F, Fratini B, Gradilone A, Ottini L, Giannini G, Coppa A, Capalbo C.
    • PeerJ. 2019 Nov 15;7:e7972. doi: 10.7717/peerj.7972. eCollection 2019.
    • From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
    • van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D.
    • Mol Genet Genomic Med. 2019 Nov 13:e1045. doi: 10.1002/mgg3.1045. [Epub ahead of print]
    • A miniaturized electrochemical platform with an integrated PDMS reservoir for label-free DNA hybridization detection using nanostructured Au electrodes.
    • Tripathy S, Joseph J, Pothuneedi S, Das D, Vanjari SRK, Rao AVSSN, Singh SG.
    • Analyst. 2019 Oct 17. doi: 10.1039/c9an01076a. [Epub ahead of print]
    • Eliminating the secondary structure of targeting strands for enhancement of DNA probe based low-abundance point mutation detection.
    • Ming Z, Chen Q, Chen N, Lin M, Liu N, Hu J, Xiao X.
    • Anal Chim Acta. 2019 Oct 10;1075:137-143. doi: 10.1016/j.aca.2019.05.015. Epub 2019 May 16.
    • Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests.
    • [No author given]
    • GenomeWeb. 2019 Oct 4.
    • News
    • Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
    • Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E.
    • JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900.

    Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)

    • Multiplex ddPCR assay for screening copy number variations in BRCA1 gene.
    • Oscorbin I, Kechin A, Boyarskikh U, Filipenko M.
    • Breast Cancer Res Treat. 2019 Sep 3. doi: 10.1007/s10549-019-05425-3. [Epub ahead of print]
    • Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.
    • Ong PY, Poon SL, Tan KT, Putti TC, Ow SGW, Chen SJ, Chen CH, Lee SC.
    • Gynecol Oncol. 2019 Aug 31. pii: S0090-8258(19)31479-9. doi: 10.1016/j.ygyno.2019.08.027. [Epub ahead of print]
    • Identifying Methylation Pattern and Genes Associated with Breast Cancer Subtypes.
    • Chen L, Zeng T, Pan X, Zhang YH, Huang T, Cai YD.
    • Int J Mol Sci. 2019 Aug 31;20(17). pii: E4269. doi: 10.3390/ijms20174269.
    • Detection of BRCA 1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview on the current methods.
    • Concolino P, Capoluongo E.
    • Expert Rev Mol Diagn. 2019 Aug 20. doi: 10.1080/14737159.2019.1657011. [Epub ahead of print]
    • Review
    • BART-Seq: cost-effective massively parallelized targeted sequencing for genomics, transcriptomics, and single-cell analysis.
    • Uzbas F, Opperer F, Sönmezer C, Shaposhnikov D, Sass S, Krendl C, Angerer P, Theis FJ, Mueller NS, Drukker M.
    • Genome Biol. 2019 Aug 6;20(1):155. doi: 10.1186/s13059-019-1748-6.
    • Targeted short read sequencing and assembly of re-arrangements and candidate gene loci provide megabase diplotypes.
    • Shin G, Greer SU, Xia LC, Lee H, Zhou J, Boles TC, Ji HP.
    • Nucleic Acids Res. 2019 Jul 27. pii: gkz661. doi: 10.1093/nar/gkz661. [Epub ahead of print]
    • Label-free discrimination of single nucleotide changes in DNA by reflectometric interference Fourier transform spectroscopy.
    • Makiyan F, Rahimi F, Hajati M, Shafiekhani A, Rezayan AH, Ansari-Pour N.
    • Colloids Surf B Biointerfaces. 2019 May 31;181:714-720. doi: 10.1016/j.colsurfb.2019.05.066. [Epub ahead of print]
    • Significant allelic dropout phenomenon of Oncomine BRCA Research Assay on Ion Torrent S5.
    • Jeong TD, Cho SY, Kim MW, Huh J.
    • Clin Chem Lab Med. 2019 May 27;57(6):e124-e127. doi: 10.1515/cclm-2018-0674.
    • Letter
    • Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.
    • Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.
    • Crit Rev Oncol Hematol. 2019 May 25;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. [Epub ahead of print]
    • Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
    • Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B.
    • BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.
    • A reference system for BRCA mutation detection based on next-generation sequencing in the Chinese population.
    • Qu S, Chen Q, Yi Y, Shao K, Zhang W, Wang Y, Bai J, Li X, Liu Z, Wang X, Jing R, Guan Y, Yi X, Yan M, Cao B, Chen F, Zhu S, Yang X, Wu Y, Huang J.
    • J Mol Diagn. 2019 Apr 23. pii: S1525-1578(18)30284-8. doi: 10.1016/j.jmoldx.2019.03.003. [Epub ahead of print]
    • Fluorescent C-NanoDots for rapid detection of BRCA1, CFTR and MRP3 gene mutations.
    • García-Mendiola T, Elosegui CG, Bravo I, Pariente F, Jacobo-Martin A, Navio C, Rodriguez I, Wannemacher R, Lorenzo E.
    • Mikrochim Acta. 2019 Apr 23;186(5):293. doi: 10.1007/s00604-019-3386-9.
    • Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
    • Nicolussi A, Belardinilli F, Mahdavian Y, Colicchia V, D'Inzeo S, Petroni M, Zani M, Ferraro S, Valentini V, Ottini L, Giannini G, Capalbo C, Coppa A.
    • PeerJ. 2019 Apr 22;7:e6661. doi: 10.7717/peerj.6661. eCollection 2019.
    • Film-Spotting chiral miniPEG-γPNA array for BRCA1 gene mutation detection.
    • Dong B, Nie K, Shi H, Chao L, Ma M, Gao F, Liang B, Chen W, Long M, Liu Z.
    • Biosens Bioelectron. 2019 Apr 19;136:1-7. doi: 10.1016/j.bios.2019.04.027. [Epub ahead of print]
    • BRCA1-No Matter How You Splice It.
    • Li D, Harlan-Williams LM, Kumaraswamy E, Jensen RA.
    • Cancer Res. 2019 Apr 16. doi: 10.1158/0008-5472.CAN-18-3190. [Epub ahead of print]
    • Review
    • Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.
    • Gornjec A, Novakovic S, Stegel V, Hocevar M, Pohar Marinsek Z, Gazic B, Krajc M, Skof E.
    • BMC Cancer. 2019 Apr 2;19(1):296. doi: 10.1186/s12885-019-5535-2.
    • A unique FRET approach toward detection of single-base mismatch DNA in BRCA1 gene.
    • Borghei YS, Hosseini M, Ganjali MR, Ju H.
    • Mater Sci Eng C Mater Biol Appl. 2019 Apr;97:406-411. doi: 10.1016/j.msec.2018.12.049. Epub 2018 Dec 17.
    • DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
    • Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A.
    • Genet Med. 2019 Mar;21(3):683-693. doi: 10.1038/s41436-018-0092-7. Epub 2018 Jul 28.
    • Single gold-bridged nanoprobes for identification of single point DNA mutations.
    • Ma X, Song S, Kim S, Kwon MS, Lee H, Park W, Sim SJ.
    • Nat Commun. 2019 Feb 19;10(1):836. doi: 10.1038/s41467-019-08769-y.
    • Rapid and easy detection of the five most common mutations in BRCA1 and BRCA2 genes in the Polish population using CAPS and ACRS-PCR methods.
    • Dąbrowski A, Ułaszewski S, Niedźwiecka K.
    • Acta Biochim Pol. 2019 Feb 6;66(1):33-37. doi: 10.18388/abp.2018_2654.
    • Optimization of Porous Silicon Conditions for DNA-based Biosensing via Reflectometric Interference Spectroscopy.
    • Rahimi F, Fardindoost S, Ansari-Pour N, Sepehri F, Makiyan F, Shafiekhani A, Rezayan AH.
    • Cell J. 2019 Jan;20(4):584-591. doi: 10.22074/cellj.2019.5598. Epub 2018 Aug 1.
    • Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.
    • De Bonis M, Minucci A, Scaglione GL, De Paolis E, Zannoni G, Scambia G, Capoluongo E.
    • Fam Cancer. 2019 Jan;18(1):29-35. doi: 10.1007/s10689-018-0094-2.
    • A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
    • Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.
    • Case report
    • BRCA-analyzer: Automatic workflow for processing NGS reads of BRCA1 and BRCA2 genes.
    • Kechin A, Khrapov E, Boyarskikh U, Kel A, Filipenko M.
    • Comput Biol Chem. 2018 Dec;77:297-306. doi: 10.1016/j.compbiolchem.2018.10.012. Epub 2018 Oct 23.
    • A Turn-On Detection of DNA Sequences by Means of Fluorescence of DNA-Templated Silver Nanoclusters via Unique Interactions of a Hydrated Ionic Liquid.
    • Teng Y, Tateishi-Karimata H, Tsuruoka T, Sugimoto N.
    • Molecules. 2018 Nov 6;23(11). pii: E2889. doi: 10.3390/molecules23112889.
    • Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection.
    • Vendrell JA, Vilquin P, Larrieux M, Van Goethem C, Solassol J.
    • J Mol Diagn. 2018 Nov;20(6):754-764. doi: 10.1016/j.jmoldx.2018.06.003. Epub 2018 Jul 25.
    • Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.
    • Germani A, Libi F, Maggi S, Stanzani G, Lombardi A, Pellegrini P, Mattei M, De Marchis L, Amanti C, Pizzuti A, Torrisi MR, Piane M.
    • Oncotarget. 2018 Sep 14;9(72):33648-33655. doi: 10.18632/oncotarget.26000. eCollection 2018 Sep 14.
    • Selective nanopore sequencing of human BRCA1 by Cas9-assisted targeting of chromosome segments (CATCH).
    • Gabrieli T, Sharim H, Fridman D, Arbib N, Michaeli Y, Ebenstein Y.
    • Nucleic Acids Res. 2018 Aug 21;46(14):e87. doi: 10.1093/nar/gky411.
    • A star-shaped DNA probe based on strand displacement for universal and multiplexed fluorometric detection of genetic variations.
    • Liu N, Xu K, Liu L, Chen X, Zou Y, Xiao X.
    • Mikrochim Acta. 2018 Aug 13;185(9):413. doi: 10.1007/s00604-018-2941-0.
    • A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.
    • Liu Q, Tong D, Liu G, Yi Y, Xu J, Yang X, Wang L, Zhang J, Ye J, Zhang Y, Yuan G, Wang P, Chen R, Guan Y, Yi X, Zhang D, Jiang J.
    • Cancer Biol Ther. 2018 Aug 3;19(8):669-675. doi: 10.1080/15384047.2018.1451278. Epub 2018 Apr 19.
    • A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes.
    • Martínez-Treviño DA, León-Cachón RBR, Villarreal-Garza C, Aguilar Y Méndez D, Aguilar-Martínez E, Barrera-Saldaña HA.
    • Mol Med Rep. 2018 Aug;18(2):1531-1537. doi: 10.3892/mmr.2018.9141. Epub 2018 Jun 6.
    • Molecularly imprinted polymers-based electrochemical DNA biosensor for the determination of BRCA-1 amplified by SiO2@Ag.
    • You M, Yang S, Tang W, Zhang F, He P.
    • Biosens Bioelectron. 2018 Jul 30;112:72-78. doi: 10.1016/j.bios.2018.04.038. Epub 2018 Apr 18.
    • The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.
    • Mahamdallie S, Ruark E, Holt E, Poyastro-Pearson E, Renwick A, Strydom A, Seal S, Rahman N.
    • Wellcome Open Res. 2018 Jun 12;3:68. doi: 10.12688/wellcomeopenres.14594.1. eCollection 2018.
    • Application of DNA Machineries for the Barcode Patterned Detection of Genes or Proteins.
    • Zhou Z, Luo G, Wulf V, Willner I.
    • Anal Chem. 2018 Jun 5;90(11):6468-6476. doi: 10.1021/acs.analchem.7b04916. Epub 2018 May 24.
    • A Highly Selective DNA Sensor Based on Graphene Oxide-Silk Fibroin Composite and AuNPs as a Probe Oligonucleotide Immobilization Platform3667.
    • Benvidi A, Abbasi Z, Dehghan Tezerjani M, Banaei M, Zare HR, Molahosseini H, Jahanbani S.
    • Acta Chim Slov. 2018 Jun;65(2):278-288. doi: 10.17344/acsi.2017.3667.
    • Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus at 12q15.
    • Madsen MJ, Knight S, Sweeney C, Factor R, Salama M, Stijleman IJ, Rajamanickam V, Welm BE, Arunachalam S, Jones B, Rachamadugu R, Rowe K, Cessna MH, Thomas A, Kushi LH, Caan BJ, Bernard PS, Camp NJ.
    • Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):644-652. doi: 10.1158/1055-9965.EPI-17-0887. Epub 2018 Apr 12.
    • A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.
    • Concolino P, Rizza R, Mignone F, Costella A, Guarino D, Carboni I, Capoluongo E, Santonocito C, Urbani A, Minucci A.
    • Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.
    • A novel BRCA1 gene deletion detection in human breast carcinoma MCF-7 cells through FRET between quantum dots and silver nanoclusters.
    • Borghei YS, Hosseini M, Ganjali MR, Hosseinkhani S.
    • J Pharm Biomed Anal. 2018 Apr 15;152:81-88. doi: 10.1016/j.jpba.2018.01.014. Epub 2018 Jan 9.
    • A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.
    • Scaglione GL, Concolino P, De Bonis M, De Paolis E, Minucci A, Ferrandina G, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2018 Mar 23;19(4). pii: E961. doi: 10.3390/ijms19040961.
    • Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
    • Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC; BIC Steering Committee.
    • NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018.
    • Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.
    • Kwong A, Ho JCW, Shin VY, Kurian AW, Tai E, Esserman LJ, Weitzel JN, Lin PH, Field M, Domchek SM, Lo J, Ngan HYS, Ma ESK, Chan TL, Ford JM.
    • Oncotarget. 2017 Dec 20;9(8):7832-7843. doi: 10.18632/oncotarget.23471. eCollection 2018 Jan 30.
    • Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.
    • Hwang SM, Lee KC, Lee MS, Park KU.
    • Cancer Res Treat. 2018 Jan;50(1):255-264. doi: 10.4143/crt.2017.062. Epub 2017 Apr 7.
    • Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
    • Capone GL, Putignano AL, Saavedra ST, Paganini I, Sestini R, Gensini F, De Rienzo I, Papi L, Porfirio B.
    • J Mol Diagn. 2018 Jan;20(1):87-94. doi: 10.1016/j.jmoldx.2017.09.005. Epub 2017 Oct 20.
    • The Rise and Fall and Rise of Linkage Analysis as a Technique for Finding and Characterizing Inherited Influences on Disease Expression.
    • Lipner EM, Greenberg DA.
    • Methods Mol Biol. 2018;1706:381-397. doi: 10.1007/978-1-4939-7471-9_21.
    • Review
    • Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.
    • Zidekova D, Waczulikova I, Dolesova L, Vavrova L, Hamidova O, Lohajova Behulova R, Konecny M.
    • Neoplasma. 2018;65(2):309-315. doi: 10.4149/neo_2018_170507N328.
    • Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.
    • Hirotsu Y, Ooka Y, Sakamoto I, Nakagomi H, Omata M.
    • Oncotarget. 2017 Dec 6;8(70):114463-114473. doi: 10.18632/oncotarget.22962. eCollection 2017 Dec 29.
    • Detection of large deletion in human BRCA1 gene in human breast carcinoma MCF-7 cells by using DNA-Silver Nanoclusters.
    • Borghei YS, Hosseini M, Ganjali MR.
    • Methods Appl Fluoresc. 2017 Dec 13;6(1):015001. doi: 10.1088/2050-6120/aa8988.
    • Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
    • de Jong LC, Cree S, Lattimore V, Wiggins GAR, Spurdle AB; kConFab Investigators, Miller A, Kennedy MA, Walker LC.
    • Breast Cancer Res. 2017 Nov 28;19(1):127. doi: 10.1186/s13058-017-0919-1.
    • Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.
    • Nunziato M, Starnone F, Lombardo B, Pensabene M, Condello C, Verdesca F, Carlomagno C, De Placido S, Pastore L, Salvatore F, D'Argenio V.
    • Int J Mol Sci. 2017 Nov 22;18(11). pii: E2487. doi: 10.3390/ijms18112487.
    • Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.
    • Schmidt AY, Hansen TVO, Ahlborn LB, Jønson L, Yde CW, Nielsen FC.
    • J Mol Diagn. 2017 Nov;19(6):809-816. doi: 10.1016/j.jmoldx.2017.07.003. Epub 2017 Aug 17.
    • Detection of BRCA1 gross rearrangements by droplet digital PCR.
    • Preobrazhenskaya EV, Bizin IV, Kuligina ES, Shleykina AY, Suspitsin EN, Zaytseva OA, Anisimova EI, Laptiev SA, Gorodnova TV, Belyaev AM, Imyanitov EN, Sokolenko AP.
    • Breast Cancer Res Treat. 2017 Oct;165(3):765-770. doi: 10.1007/s10549-017-4357-7. Epub 2017 Jun 27.
    • Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
    • Schenk D, Song G, Ke Y, Wang Z.
    • PLoS One. 2017 Jul 12;12(7):e0181062. doi: 10.1371/journal.pone.0181062. eCollection 2017.
    • The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
    • Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Shan L, Sun MH, Zhou XY, Huang W, Shao ZM.
    • Int J Cancer. 2017 Jul 1;141(1):129-142. doi: 10.1002/ijc.30692. Epub 2017 Apr 25.
    • Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.
    • Concolino P, Rizza R, Hackmann K, Paris I, Minucci A, De Paolis E, Scambia G, Zuppi C, Schrock E, Capoluongo E.
    • Breast Cancer Res Treat. 2017 Jul;164(2):497-503. doi: 10.1007/s10549-017-4275-8. Epub 2017 May 9.
    • Case report
    • Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.
    • Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E.
    • Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30.
    • Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
    • Buzolin AL, Moreira CM, Sacramento PR, Oku AY, Fornari ARDS, Antonio DSM, Quaio CRDAC, Baratela WR, Mitne-Neto M.
    • Hum Genomics. 2017 Jun 26;11(1):14. doi: 10.1186/s40246-017-0110-x.
    • The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
    • Mahamdallie S, Ruark E, Yost S, Ramsay E, Uddin I, Wylie H, Elliott A, Strydom A, Renwick A, Seal S, Rahman N.
    • Wellcome Open Res. 2017 May 26;2:35. doi: 10.12688/wellcomeopenres.11689.1. eCollection 2017.
    • Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.
    • Shin S, Kim Y, Oh SC, Yu N, Lee ST, Choi JR, Lee KA.
    • Oncotarget. 2017 May 23;8(21):34858-34866. doi: 10.18632/oncotarget.16799.
    • A mass spectrometry-based multiplex SNP genotyping by utilizing allele-specific ligation and strand displacement amplification.
    • Park JH, Jang H, Jung YK, Jung YL, Shin I, Cho DY, Park HG.
    • Biosens Bioelectron. 2017 May 15;91:122-127. doi: 10.1016/j.bios.2016.10.065. Epub 2016 Nov 24.
    • Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.
    • Silva FC, Torrezan GT, Brianese RC, Stabellini R, Carraro DM.
    • Mol Genet Genomic Med. 2017 May 11;5(4):443-447. doi: 10.1002/mgg3.295. eCollection 2017 Jul.
    • Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.
    • Park HS, Park SJ, Kim JY, Kim S, Ryu J, Sohn J, Park S, Kim GM, Hwang IS, Choi JR, Kim SI.
    • Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.
    • Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
    • Zanella I, Merola F, Biasiotto G, Archetti S, Spinelli E, Di Lorenzo D.
    • Exp Mol Pathol. 2017 Apr;102(2):314-320. doi: 10.1016/j.yexmp.2017.03.001. Epub 2017 Mar 2.
    • High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.
    • Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E.
    • Mol Diagn Ther. 2017 Apr;21(2):217-223. doi: 10.1007/s40291-017-0262-3.
    • [Analysis of DNA Methylation in BRCA2 Gene Using Electrode Biochips].
    • Bartošík M, Bartáková D.
    • Klin Onkol. 2017 Spring;30(Supplementum1):149-152.
    • Rucaparib Approved for Ovarian Cancer.
    • [No authors listed]
    • Cancer Discov. 2017 Feb;7(2):120-121. doi: 10.1158/2159-8290.CD-NB2016-164. Epub 2017 Jan 5.
    • News
    • BRCA Testing by Single-Molecule Molecular Inversion Probes.
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    • Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
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    • Review
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    • upQMPSF, a Method for the Detection of BRCA1 Exon Copy Number Variants.
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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
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    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
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    • First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
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    • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
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    • Pathway Genomics Launches BRCA1/2 Genetic Test with One for One Program.
    • [No author given]
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    • Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
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    • A New Rapid Methodological Strategy to Assess BRCA Mutational Status.
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    • Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/BRCA2 Example.
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    • Construction of label-free electrochemical immunosensor on mesoporous carbon nanospheres for breast cancer susceptibility gene.
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    • Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting.
    • Costa JL, Sousa S, Justino A, Kay T, Fernandes S, Cirnes L, Schmitt F, Machado JC.
    • Hum Mutat. 2013 Apr;34(4):629-35. doi: 10.1002/humu.22272. Epub 2013 Feb 11.
    • Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanning.
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    • Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification.
    • Yassaee VR, Emamalizadeh B, Omrani MD.
    • J Genet. 2013 Apr;92(1):131-4.
    • Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallelpyrosequencing.
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    • BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
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    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2- new mutation deep in the intron of exon 12?

    Comment:

    Hidden Dangers: A Cryptic Exon Disrupts BRCA2 mRNA.

    • Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.
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    Press: New BRCA1 and BRCA2 Test May Be More Accurate, Less Expensive. (Breastcancer.org)

    • DHPLC/SURVEYOR nuclease: a sensitive, rapid and affordable method to analyze BRCA1 and BRCA2 mutations in breast cancer families.
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    • A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype.
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    • Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
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    • Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
    • Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R.
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    • A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
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    Press: Genetic Susceptibility to Breast Cancer: a New, More Accurate Diagnostic Test for Mutation Screening. (PR Newswire)

    • An ultrasensitive electrochemical impedance sensor for a special BRCA1 breast cancer gene sequence based on lambda exonuclease assisted target recycling amplification.
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    • Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
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    • Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
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    • Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.
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