• Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
    • Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM.
    • Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01284-1. Epub ahead of print.
    • Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.
    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.
    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.
    • Homologous Recombination Deficiency in Ovarian Cancer: From the Biological Rationale to Current Diagnostic Approaches.
    • Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S.>
    • J Pers Med. 2023 Feb 2;13(2):284. doi: 10.3390/jpm13020284.
    • Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
    • Debbabi I, Vacher S, Neuzillet C, Cros J, Revillon F, Petitalot A, Turpin A, Antonio S, Girard E, Dupain C, Kamal M, Hammel P, Bièche I, Masliah-Planchon J, Caputo SM.
    • Ther Adv Med Oncol. 2023 Jan 18;15:17588359221146132. doi: 10.1177/17588359221146132.
    • Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.
    • Akbari V, Hanlon VCT, O’Neill K, Lefebvre L, Schrader KA, Lansdorp PM, Jones SJM.
    • Cell Genom. 2022 Dec 21. doi: 10.1016/j.xgen.2022.100233. Epub ahead of print.

    Related:

    •• Research news: Genetic Test Identifies Parental Source of Cancer Variant. (Medscape Oncology)

    • Signal "on-off-off" strategy for improving the sensitivity of BRCA1 electrochemical detection by combining gold substrate amplification, DNA conformational transformation and DSN enzymatic hydrolysis dual reduction.
    • Li Z, Chen J, Zhang L, Liu Y, Jia Y, Zhou G, Luo L.
    • Anal Chim Acta. 2022 Dec 1;1235:340461. doi: 10.1016/j.aca.2022.340461. Epub 2022 Oct 1.
    • Cytopathological assessment is an accurate method for identifying immunophenotypic features and BRCA1/2 mutations of high-grade serous carcinoma from ascites.
    • Miceska S, Škof E, Novakovic S, Stegel V, Jericevic A, Grcar Kuzmanov B, Smrkolj Š, Cvjeticanin B, Bebar S, Globocnik Kukovica M, Kloboves-Prevodnik V.
    • Cancer Cytopathol. 2022 Nov 18. doi: 10.1002/cncy.22664. Epub ahead of print.
    • Noninvasive Pregestational Genetic Testing of Embryos Using Smart Sensors Array.
    • Abu Raya YS, Srebnik N, Rubinstein E, Schonberger O, Broza YY, Suschinel R, Haick H, Ionescu R.
    • ACS Sens. 2022 Nov 14. doi: 10.1021/acssensors.2c01492. Epub ahead of print.
    • Electrochemical biosensors for analysis of DNA point mutations in cancer research.
    • Ondraskova K, Sebuyoya R, Moranova L, Holcakova J, Vonka P, Hrstka R, Bartosik M.
    • Anal Bioanal Chem. 2022 Oct 27. doi: 10.1007/s00216-022-04388-7. Epub ahead of print.
    • Review
    • Haplotyping pharmacogenes using TLA combined with Illumina or Nanopore sequencing.
    • Tilleman L, Rubben K, Van Criekinge W, Deforce D, Van Nieuwerburgh F.
    • Sci Rep. 2022 Oct 22;12(1):17734. doi: 10.1038/s41598-022-22499-0.
    • Spectrophotometric Detection of the BRCA1 Gene via Exponential Isothermal Amplification and Hybridization Chain Reaction of Surface-Bound Probes.
    • Tang Z, Zhao W, Sun Y, Deng Y, Bao J, Qiu C, Xiao X, Xu Y, Xie Z, Cai J, Chen X, Lin M, Xu G, Chen Z, Yu L.
    • Langmuir. 2022 Oct 4;38(39):12050-12057. doi: 10.1021/acs.langmuir.2c01903. Epub 2022 Sep 25.
    • Electrochemical Detection of Femtomolar DNA via Boronate Affinity-Mediated Decoration of Polysaccharides with Electroactive Tags.
    • Hu Q, Wan J, Luo Y, Li S, Cao X, Feng W, Liang Y, Wang W, Niu L.
    • Anal Chem. 2022 Sep 20;94(37):12860-12865. doi: 10.1021/acs.analchem.2c02894. Epub 2022 Sep 7.
    • Detection of Breast Cancer Lump and BRCA1/2 Genetic Mutation under Deep Learning.
    • Miao Y, Tang S.
    • Comput Intell Neurosci. 2022 Sep 19;2022:9591781. doi: 10.1155/2022/9591781.
    • Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.
    • Lønning PE, Nikolaienko O, Pan K, Kurian AW, Eikesdal HP, Pettinger M, Anderson GL, Prentice RL, Chlebowski RT, Knappskog S.
    • JAMA Oncol. 2022 Sep 8. doi: 10.1001/jamaoncol.2022.3846. Epub ahead of print.
    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
    • Speight B, Colvin E, Epurescu ED, Drummond J, Verhoef S, Pereira M, Evans DG, Tischkowitz M.
    • Hered Cancer Clin Pract. 2022 Sep 6;20(1):32. doi: 10.1186/s13053-022-00237-x.
    • A Turn Off Fluorescence Probe Based on Carbon Dots for Highly Sensitive Detection of BRCA1 Gene in Real Samples and Cellular Imaging.
    • Pirsaheb M, Mohammadi S, Khodarahmi R, Hoseinkhani Z, Mansouri K, Payandeh M.
    • J Fluoresc. 2022 Sep;32(5):1733-1741. doi: 10.1007/s10895-022-02954-x. Epub 2022 Jun 8.
    • BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.
    • Alvarez C, Ortega-Hernández V, Cortez A, Carvallo P.
    • Mol Biol Rep. 2022 Aug;49(8):7531-7539. doi: 10.1007/s11033-022-07561-4. Epub 2022 May 21.
    • Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1.
    • Kim KB, Park S, Ha JS, Ryoo N, Kim DH.
    • Ann Lab Med. 2022 Jul 1;42(4):497-499. doi: 10.3343/alm.2022.42.4.497.
    • Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free DNA Samples.
    • Werner TV, Kock S, Weber I, Kayser G, Werner M, Lassmann S.
    • J Mol Diagn. 2022 Jul;24(7):784-802. doi: 10.1016/j.jmoldx.2022.04.001.
    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
    • Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
    • Int J Oncol. 2022 May;60(5):58. doi: 10.3892/ijo.2022.5349. Epub 2022 Apr 6.
    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
    • Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H.
    • HGG Adv. 2022 Jan 8 [eCollection 2022 Apr 14];3(2):100085. doi: 10.1016/j.xhgg.2022.100085.
    • Integrated Microfluidic System for Cell-Free DNA Extraction from Plasma for Mutant Gene Detection and Quantification.
    • Cheng YH, Wang CH, Hsu KF, Lee GB.
    • Anal Chem. 2022 Mar 15;94(10):4311-4318. doi: 10.1021/acs.analchem.1c04988. Epub 2022 Mar 2.
    • Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
    • Sangree AK, Griffith AL, Szegletes ZM, Roy P, DeWeirdt PC, Hegde M, McGee AV, Hanna RE, Doench JG.
    • Nat Commun. 2022 Mar 14;13(1):1318. doi: 10.1038/s41467-022-28884-7.
    • Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.
    • Ebner S, Winkelmann R, Martin S, Köllermann J, Wild PJ, Demes M.
    • Oncotarget. 2022 Mar 3;13:464-475. doi: 10.18632/oncotarget.28213.
    • SF-qPCR: Strand Displacement-Based Fast Quantitative Polymerase Chain Reaction.
    • Kim J, Jung C.
    • Biochip J. 2022 [Mar];16(1):41-48. doi: 10.1007/s13206-021-00044-x. Epub 2022 Jan 26.
    • Tetrahedral DNA Framework-Programmed Electrochemical Biosenors with Gold Nanoparticles for Ultrasensitive Cell-Free DNA Detection.
    • Wang C, Wang W, Xu Y, Zhao X, Li S, Qian Q, Mi X.
    • Nanomaterials (Basel). 2022 Feb 16;12(4):666. doi: 10.3390/nano12040666.
    • Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.
    • Ostrowska M, Olszewska-Bozek K, Podlodowska J, Sierocinska-Sawa J, Wojcierowski J.
    • J Genomics. 2022 Feb 14;10:33-38. doi: 10.7150/jgen.68220.
    • Graphene-Oxide and Ionic Liquid Modified Electrodes for Electrochemical Sensing of Breast Cancer 1 Gene.
    • Isin D, Eksin E, Erdem A.
    • Biosensors (Basel). 2022 Feb 4;12(2):95. doi: 10.3390/bios12020095.
    • Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
    • Lee JH, Ryoo NH, Ha JS, Park S, Kim KB, Hee KS, Kim DH.
    • Clin Lab. 2022 Feb 1;68(2). doi: 10.7754/Clin.Lab.2021.210609.
    • Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes.
    • Gouvêa Moreira TC, Da Silva Spínola P, Campos Rezende M, Moreira de Freitas CS, Borges Mury F, Rodrigues Bonvicino C, De Andrade Agostinho L.
    • Biomedica. 2021 Dec 15;41(4):773-786. doi: 10.7705/biomedica.5663.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
    • Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
    • J Med Genet. 2021 Dec;58(12):850-852. doi: 10.1136/jmedgenet-2020-107320. Epub 2020 Oct 15.
    • Signal amplification of novel sandwich-type genosensor via catalytic redox-recycling on platform MWCNTs/Fe3O4@TMU-21 for BRCA1 gene detection.
    • Ehzari H, Safari M, Samimi M.
    • Talanta. 2021 Nov 1;234:122698. doi: 10.1016/j.talanta.2021.122698. Epub 2021 Jul 9.
    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Nov;258-259:10-17. doi: 10.1016/j.cancergen.2021.06.003. Epub 2021 Jun 18.
    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021 Nov;5:1044-1047. doi: 10.1200/PO.20.00454.
    • Case report
    • Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
    • Bouras A, Leone M, Bonadona V, Lebrun M, Calender A, Boutry-Kryza N.
    • Genes (Basel). 2021 Oct 29;12(11):1736. doi: 10.3390/genes12111736.
    • Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
    • Valtcheva N, Nguyen-Sträuli BD, Wagner U, Freiberger SN, Varga Z, Britschgi C, Dedes KJ, Rechsteiner MP.
    • Exp Mol Pathol. 2021 Oct 9:104705. doi: 10.1016/j.yexmp.2021.104705. Epub ahead of print.
    • Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
    • Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A.
    • Front Oncol. 2021 Sep 6;11:700853. doi: 10.3389/fonc.2021.700853.
    • High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
    • Janíková K, Vánová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L.
    • Neoplasma. 2021 Jul 14:210226N256. doi: 10.4149/neo_2021_210226N256. Epub ahead of print.
    • Electronic characteristics of BRCA1 mutations in DNA.
    • He L, Zhang J, He C, Zhao B, Xie Z, Chen W, Sonawane MR, Patil SR.
    • Biopolymers. 2021 Jul 9:e23465. doi: 10.1002/bip.23465. Epub ahead of print.
    • Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
    • Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancers (Basel). 2021 Jul 3;13(13):3341. doi: 10.3390/cancers13133341.
    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.
    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.
    • Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
    • Poon KS, Chiu L, Tan KM.
    • Glob Med Genet. 2021 Jun;8(2):62-68. doi: 10.1055/s-0041-1726338. Epub 2021 Mar 16.
    • Multiplex Electrochemiluminescence Polarization Assay Based on the Surface Plasmon Coupling Effect of Au NPs and Ag@Au NPs.
    • Liang Z, Nie Y, Zhang X, Wang P, Ma Q.
    • Anal Chem. 2021 May 25;93(20):7491-7498. doi: 10.1021/acs.analchem.1c00757. Epub 2021 May 13.
    • Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.
    • Cimadamore A, Cheng L, Massari F, Santoni M, Pepi L, Franzese C, Scarpelli M, Lopez-Beltran A, Galosi AB, Montironi R.
    • Int J Mol Sci. 2021 May 24;22(11):5522. doi: 10.3390/ijms22115522.
    • A pitfall in targeted Sanger sequencing of BRCA splicing variants in at-risk individuals.
    • He L, Zhang B, Yang J, Guan W, Miao S, Fan X.
    • Pathol Res Pract. 2021 Apr 28;222:153456. doi: 10.1016/j.prp.2021.153456. Epub ahead of print.
    • Letter
    • Germline Structural Variations in Cancer Predisposition Genes.
    • Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A, Bozsik A.
    • Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217.
    • Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
    • Huang C, Li G, Wu J, Liang J, Wang X.
    • Genome Biol. 2021 Mar 10;22(1):80. doi: 10.1186/s13059-021-02305-2.
    • The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
    • De Paolis E, Pietragalla A, De Bonis M, Fagotti A, Urbani A, Scambia G, Minucci A.
    • Mol Biol Rep. 2021 Mar;48(3):2985-2992. doi: 10.1007/s11033-021-06243-x. Epub 2021 Mar 3.
    • Case report
    • Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors.
    • See JE, Shin HR, Jang G, Kweon J, Kim Y.
    • J Vis Exp. 2021 Feb 28;(168). doi: 10.3791/61557.
    • Video
    • Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.
    • Hong J, Lee J, Kwon M, Kim JY, Kim JW, Ahn JS, Im YH, Park YH.
    • Diagnostics (Basel). 2021 Feb 22;11(2):370. doi: 10.3390/diagnostics11020370.
    • Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.
    • Weedon MN, Jackson L, Harrison JW, Ruth KS, Tyrrell J, Hattersley AT, Wright CF.
    • BMJ. 2021 Feb 15;372:n214. doi: 10.1136/bmj.n214.
    • Multiplexed and amplified chemiluminescence resonance energy transfer (CRET) detection of genes and microRNAs using dye-loaded hemin/G-quadruplex-modified UiO-66 metal-organic framework nanoparticles.
    • Zhang P, Ouyang Y, Willner I.
    • Chem Sci. 2021 Feb 8;12(13):4810-4818. doi: 10.1039/d0sc06744j.
    • Fluorometric determination of the breast cancer 1 gene based on the target-induced conformational change of a DNA template for copper nanoclusters.
    • Liu J, Wang T, Xiao B, Deng M, Yu P, Qing T.
    • Anal Methods. 2021 Feb 7;13(5):712-718. doi: 10.1039/d0ay01712d. Epub 2021 Jan 22.
    • DNA-Mediated Au-Au Dimer-Based Surface Plasmon Coupling Electrochemiluminescence Sensor for BRCA1 Gene Detection.
    • Zhang Q, Tian Y, Liang Z, Wang Z, Xu S, Ma Q.
    • Anal Chem. 2021 Feb 3. doi: 10.1021/acs.analchem.0c05440. Epub ahead of print.
    • Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing.
    • De Paolis E, De Bonis M, Concolino P, Piermattei A, Fagotti A, Urbani A, Scambia G, Minucci A, Capoluongo E.
    • Clin Chim Acta. 2021 Feb;513:17-24. doi: 10.1016/j.cca.2020.12.001. Epub 2020 Dec 7.
    • Characterization of New ATM Deletion Associated with Hereditary Breast Cancer.
    • Parenti S, Rabacchi C, Marino M, Tenedini E, Artuso L, Castellano S, Carretta C, Mallia S, Cortesi L, Toss A, Barbieri E, Manfredini R, Luppi M, Trenti T, Tagliafico E.
    • Genes (Basel). 2021 Jan 21;12(2):136. doi: 10.3390/genes12020136.
    • Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
    • Lepkes L, Kayali M, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C.
    • Cancers (Basel). 2021 Jan 1;13(1):118. doi: 10.3390/cancers13010118.
    • CRISPR-Cas12a-Based Nucleic Acid Amplification-Free DNA Biosensor via Au Nanoparticle-Assisted Metal-Enhanced Fluorescence and Colorimetric Analysis.
    • Choi JH, Lim J, Shin M, Paek SH, Choi JW.
    • Nano Lett. 2020 Dec 21. doi: 10.1021/acs.nanolett.0c04303. Epub ahead of print.
    • Ultrasensitive colorimetric biosensor for BRCA1 mutation based on multiple signal amplification strategy.
    • Bai Y, Li H, Xu J, Huang Y, Zhang X, Weng J, Li Z, Sun L.
    • Biosens Bioelectron. 2020 Oct 15;166:112424. doi: 10.1016/j.bios.2020.112424. Epub 2020 Jul 11.
    • An interlocked DNA cascade system for universal probe-based melting curve analysis.
    • Zhang W, Ming Z, Chen N, Liu L, Liao Y, Xiao X, Wang H.
    • Nanoscale. 2020 Oct 7. doi: 10.1039/d0nr04691d. Epub ahead of print.
    • Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
    • Wu H, Xu B, Gao Q, Zhou X, Shao J, Liang Z, Ma D.
    • Mol Diagn Ther. 2020 Sep 24. doi: 10.1007/s40291-020-00489-0. Epub ahead of print.
    • A microfluidic chip for rapid analysis of DNA melting curves for BRCA2 mutation screening.
    • Lin X, Nagl S.
    • Lab Chip. 2020 Sep 14. doi: 10.1039/d0lc00624f. Epub ahead of print.
    • Assessment of tumor suppressor promoter methylation in healthy individuals.
    • Poduval DB, Ognedal E, Sichmanova Z, Valen E, Iversen GT, Minsaas L, Lønning PE, Knappskog S.
    • Clin Epigenetics. 2020 Aug 28;12(1):131. doi: 10.1186/s13148-020-00920-7.
    • Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
    • Deuitch N, Li ST, Courtney E, Shaw T, Dent R, Tan V, Yackowski L, Torene R, Berkofsky-Fessler W, Ngeow J.
    • Hum Genome Var. 2020 Aug 25;7:24. doi: 10.1038/s41439-020-00111-z.
    • Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
    • Park K, Kim MK, Lee T, Hong J, Kim HK, Ahn S, Lee YJ, Kim J, Lee SW, Lee JW, Lee W, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
    • J Clin Lab Anal. 2020 Aug 19:e23524. doi: 10.1002/jcla.23524. Epub ahead of print.
    • Electrochemical DNA Sensor for Sensitive BRCA1 Detection Based on DNA Tetrahedral-Structured Probe and Poly-Adenine Mediated Gold Nanoparticles.
    • Feng D, Su J, He G, Xu Y, Wang C, Zheng M, Qian Q, Mi X.
    • Biosensors (Basel). 2020 Jul 20;10(7):E78. doi: 10.3390/bios10070078.
    • A low fouling electrochemical biosensor based on the zwitterionic polypeptide doped conducting polymer PEDOT for breast cancer marker BRCA1 detection.
    • Wang J, Wang D, Hui N.
    • Bioelectrochemistry. 2020 Jul 13;136:107595. doi: 10.1016/j.bioelechem.2020.107595. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • A sequential methodology for the rapid identification and characterization of breast cancer-associated functional SNPs.
    • Zhao Y, Wu D, Jiang D, Zhang X, Wu T, Cui J, Qian M, Zhao J, Oesterreich S, Sun W, Finkel T, Li G.
    • Nat Commun. 2020 Jul 3;11(1):3340. doi: 10.1038/s41467-020-17159-8.
    • Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
    • Sim WC, Lee CY, Richards R, Karolien B, Mottier V, Goh LL.
    • Exp Mol Pathol. 2020 Jun 9:104483. doi: 10.1016/j.yexmp.2020.104483. Epub ahead of print.
    • Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing.
    • Han E, Yoo J, Chae H, Lee S, Kim DH, Kim KJ, Kim Y, Kim M.
    • Clin Chim Acta. 2020 Jun;505:49-54. doi: 10.1016/j.cca.2020.02.023. Epub 2020 Feb 21.
    • [Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing].
    • Minucci A, Mazzuccato G, Marchetti C, Pietragalla A, Scambia G, Fagotti A, Urbani A.
    • Mol Biol (Mosk). 2020 May-Jun;54(4):688-698. Russian. doi: 10.31857/S0026898420040114.
    • [Article in Russian.]
    • Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
    • Chevalier LM, Billaud A, Fronteau S, Dauvé J, Patsouris A, Verriele V, Morel A.
    • Mol Diagn Ther. 2020 Mar 2. doi: 10.1007/s40291-020-00452-z. [Epub ahead of print]
    • Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.
    • Blesa S, Olivares MD, Alic AS, Serrano A, Lendinez V, González-Albert V, Olivares L, Martínez-Hervás S, Juanes JM, Marín P, Real JT, Navarro B, García-García AB, Chaves FJ, Ivorra C.
    • Clin Chem. 2020 Mar 1;66(3):463-473. doi: 10.1093/clinchem/hvaa002.
    • Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique.
    • Gomaa Mogahed SH, Hamed YS, Ibrahim Moursy YE, Mahomoud Saied MH.
    • Asian Pac J Cancer Prev. 2020 Feb 1;21(2):431-438. doi: 10.31557/APJCP.2020.21.2.431.
    • GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.
    • Lee EJ, Kim HK, Ahn S, Lee YJ, Kim J, Lee SW, Lee JW, Lee W, Kim HS, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
    • Ann Clin Lab Sci. 2020 Jan;50(1):107-118.
    • Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test.
    • [No author given]
    • GenomeWeb. 2019 Dec 16.

    Related:

    Original research:

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

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

    • Characterization of splice-altering mutations in inherited predisposition to cancer.
    • Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
    • Proc Natl Acad Sci U S A. 2019 Dec 16. pii: 201915608. doi: 10.1073/pnas.1915608116. [Epub ahead of print]

    Related:

    Comments from NSGC Cancer SIG Discussion Forum

    Subject: cBROCA Technology for Detecting Cancer Gene Splicing Variants Published in PNAS

    • 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.

    Related:

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

    Press: Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test. (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.
    • An optimized BRCA1/2 next-generation sequencing for different clinical sample types.
    • Kim Y, Cho CH, Ha JS, Kim DH, Kwon SY, Oh SC, Lee KA.
    • J Gynecol Oncol. 2019 Aug 6. doi: 10.3802/jgo.2020.31.e9. [Epub ahead of print]
    • 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]
    • A smart fluorescent biosensor for the highly sensitive detection of BRCA1 based on a 3D DNA walker and ESDR cascade amplification.
    • Ma H, Guo B, Yan X, Wang T, Que H, Gan X, Liu P, Yan Y.
    • RSC Adv. 2019 Jun 20;9(34):19347-19353. doi: 10.1039/c9ra02401h.
    • 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.
    • Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.
    • Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
    • Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
    • Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg EM.
    • Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9.
    • Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
    • Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N.
    • Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1.
    • Photocatalytic electrosensor for label-free and ultrasensitive detection of BRCA1 gene.
    • Qin X, Xu S, Deng L, Huang R, Zhang X.
    • Biosens Bioelectron. 2016 Nov 15;85:957-63. doi: 10.1016/j.bios.2016.05.076. Epub 2016 Jun 1.
    • A novel electrochemical DNA biosensor based on a modified magnetic bar carbon paste electrode with Fe3O4NPs-reduced graphene oxide/PANHS nanocomposite.
    • Jahanbani S, Benvidi A.
    • Mater Sci Eng C Mater Biol Appl. 2016 Nov 1;68:1-8. doi: 10.1016/j.msec.2016.05.056. Epub 2016 May 16.
    • Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
    • Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.
    • Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.
    • A Nano-Biosensor for the Detection of 185delAG Mutation in BRCA1 Gene, Leading to Breast Cancer.
    • Eftekhari-Sis B, Karaminejad S, Karimi F.
    • Cancer Invest. 2016 Oct 20;34(9):431-439. Epub 2016 Sep 22.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
    • Enyedi MZ, Jaksa G, Pintér L, Sükösd F, Gyuris Z, Hajdu A, Határvölgyi E, Priskin K, Haracska L.
    • Oncotarget. 2016 Sep 20;7(38):61845-61859. doi: 10.18632/oncotarget.11259.
    • Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
    • Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, Appetecchia M, Nicolussi A, Coppa A, Sciacchitano S, Giordano C, Pinnarò P, Sanguineti G, Strigari L, Alessandrini G, Facciolo F, Cosimelli M, Grazi GL, Corrado G, Vizza E, Giannini G, Soddu S.
    • J Exp Clin Cancer Res. 2016 Sep 6;35(1):135. doi: 10.1186/s13046-016-0410-3.
    • Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    • Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JH, Ainsworth P, Waye JS, Sadikovic B.
    • J Mol Diagn. 2016 Sep;18(5):657-67. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.
    • Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.
    • Shin S, Hwang IS, Lee ST, Choi JR.
    • Breast Cancer Res Treat. 2016 Aug;158(3):433-40. doi: 10.1007/s10549-016-3891-z. Epub 2016 Jul 6.
    • First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.
    • Jouali F, Laarabi FZ, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J, Sefiani A.
    • Oncol Lett. 2016 Aug;12(2):1192-1196. Epub 2016 Jun 16.
    • Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
    • Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA.
    • PeerJ. 2016 Jun 28;4:e2162. doi: 10.7717/peerj.2162. eCollection 2016.
    • In situ hybridization chain reaction mediated ultrasensitive enzyme-free and conjugation-free electrochemcial genosensor for BRCA-1 gene in complex matrices.
    • Yang H, Gao Y, Wang S, Qin Y, Xu L, Jin D, Yang F, Zhang GJ.
    • Biosens Bioelectron. 2016 Jun 15;80:450-5. doi: 10.1016/j.bios.2016.02.011. Epub 2016 Feb 6.
    • Photocatalytic electrosensor for label-free and ultrasensitive detection of BRCA1 gene.
    • Qin X, Xu S, Deng L, Huang R, Zhang X.
    • Biosens Bioelectron. 2016 Jun 1;85:957-963. doi: 10.1016/j.bios.2016.05.076. [Epub ahead of print]
    • Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.
    • Poumpouridou N, Goutas N, Tsionou C, Dimas K, Lianidou E, Kroupis C.
    • Fam Cancer. 2016 Apr;15(2):183-91. doi: 10.1007/s10689-015-9851-7.
    • ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
    • Villacis RA, Abreu FB, Miranda PM, Domingues MA, Carraro DM, Santos EM, Andrade VP, Rossi BM, Achatz MI, Rogatto SR.
    • Tumour Biol. 2016 Mar;37(3):3145-53. doi: 10.1007/s13277-015-4145-0. Epub 2015 Oct 1.
    • Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.
    • Poulet A, Privat M, Ponelle F, Viala S, Decousus S, Perin A, Lafarge L, Ollier M, El Saghir NS, Uhrhammer N, Bignon YJ, Bidet Y.
    • Biomed Res Int. 2016;2016:5623089. Epub 2016 Aug 30.
    • Some Legal Issues Regarding the Patenting of Human Genetic Materials.
    • MacFarlane P, Kontoleon B.
    • J Law Med. 2016;24(1):181-202.
    • Some Legal Issues Regarding the Patenting of Human Genetic Materials.
    • MacFarlane P, Kontoleon B.
    • J Law Med. 2016;24(1):181-202.
    • Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
    • Minucci A, Scambia G, Santonocito C, Concolino P, Canu G, Mignone F, Saggese I, Guarino D, Costella A, Molinario R, De Bonis M, Ferrandina G, Petrillo M, Scaglione GL, Capoluongo E.
    • Expert Rev Mol Diagn. 2015 Oct;15(10):1383-403. doi: 10.1586/14737159.2015.1081059. Epub 2015 Aug 26.
    • Review
    • Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements.
    • Dong Z, Dong H, Zhong X, Peng Z, Zhu X, Sun Y, Chen Y, Liu C, Yin X, Zhu G, Zheng H, Gu Y.
    • J Genet Genome Res 2(2):019. 2015 Sep 28.
    • A network-based approach to identify disease-associated gene modules through integrating DNA methylation and gene expression.
    • Zhang Y, Zhang J, Liu Z, Liu Y, Tuo S.
    • Biochem Biophys Res Commun. 2015 Sep 25;465(3):437-42. doi: 10.1016/j.bbrc.2015.08.033. Epub 2015 Aug 14.
    • The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer.
    • Kwong A, Chen J, Shin VY, Ho JC, Law FB, Au CH, Chan TL, Ma ES, Ford JM.
    • Cancer Genet. 2015 Sep;208(9):448-54. doi: 10.1016/j.cancergen.2015.05.031. Epub 2015 Jun 9.
    • upQMPSF, a Method for the Detection of BRCA1 Exon Copy Number Variants.
    • Azrak S.
    • Biochem Genet. 2015 Jun;53(4-6):141-57. doi: 10.1007/s10528-015-9681-1. Epub 2015 May 20.
    • Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
    • Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M, Zmienko A, Nowakowska B, Irminger-Finger I, Limon J, Kozlowski P.
    • Sci Rep. 2015 May 21;5:10424. doi: 10.1038/srep10424.
    • Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
    • Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.
    • Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.
    • Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.
    • Dacheva D, Dodova R, Popov I, Goranova T, Mitkova A, Mitev V, Kaneva R.
    • Mol Diagn Ther. 2015 Apr;19(2):119-30. doi: 10.1007/s40291-015-0136-5.
    • Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.
    • El Khachibi M, Diakite B, Hamzi K, Badou A, Senhaji MA, Bakhchane A, Jouhadi H, Barakat A, Benider A, Nadifi S.
    • BMC Cancer. 2015 Feb 25;15:81. doi: 10.1186/s12885-015-1040-4.
    • Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.
    • Lai S, Brookes C, Prosser DO, Lan CC, Doherty E, Love DR.
    • Sultan Qaboos Univ Med J. 2015 Feb;15(1):e58-70. Epub 2015 Jan 21.
    • Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
    • Tafe LJ, Datto MB, Palomaki GE, Lacbawan FL.
    • Genet Med. 2015 Jan;17(1):58-62. doi: 10.1038/gim.2014.77. Epub 2014 Jun 19.
    • Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes - a Single Center Experience.
    • Ermolenko NA, Boyarskikh UA, Kechin AA, Mazitova AM, Khrapov EA, Petrova VD, Lazarev AF, Kushlinskii NE, Filipenko ML.
    • Asian Pac J Cancer Prev. 2015;16(17):7935-41.
    • Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.
    • Rajkumar T, Meenakumari B, Mani S, Sridevi V, Sundersingh S.
    • Asian Pac J Cancer Prev. 2015;16(13):5211-7.
    • High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.
    • Riahi A, Kharrat M, Lariani I, Chaabouni-Bouhamed H.
    • Fam Cancer. 2014 Dec;13(4):603-9. doi: 10.1007/s10689-014-9740-5.
    • A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
    • Concolino P, Costella A, Minucci A, Scaglione GL, Santonocito C, Salutari V, Scambia G, Zuppi C, Capoluongo E.
    • Clin Chim Acta. 2014 Nov 1;437:72-7. doi: 10.1016/j.cca.2014.06.026. Epub 2014 Jul 5.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
    • de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W.
    • Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17.
    • An efficient DNA-fueled molecular machine for the discrimination of single-base changes.
    • Song T, Xiao S, Yao D, Huang F, Hu M, Liang H.
    • Adv Mater. 2014 Sep 17;26(35):6181-5. doi: 10.1002/adma.201402314. Epub 2014 Jul 25.
    • Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.
    • Mancini-DiNardo D, Judkins T, Woolstenhulme N, Burton C, Schoenberger J, Ryder M, Murray A, Gutin N, Theisen A, Holladay J, Craft J, Arnell C, Moyes K, Roa B.
    • J Exp Clin Cancer Res. 2014 Sep 11;33:74. doi: 10.1186/s13046-014-0074-9.
    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
    • Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.
    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.
    • Concolino P, Mello E, Minucci A, Santonocito C, Scambia G, Giardina B, Capoluongo E.
    • Clin Chem Lab Med. 2014 Aug;52(8):1119-27. doi: 10.1515/cclm-2013-1114.
    • First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
    • Tedaldi G, Danesi R, Zampiga V, Tebaldi M, Bedei L, Zoli W, Amadori D, Falcini F, Calistri D.
    • BMC Cancer. 2014 Jul 1;14(1):478. doi: 10.1186/1471-2407-14-478.
    • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
    • Yeo ZX, Wong JC, Rozen SG, Lee AS.
    • BMC Genomics. 2014 Jun 24;15:516. doi: 10.1186/1471-2164-15-516.
    • Pathway Genomics Launches BRCA1/2 Genetic Test with One for One Program.
    • [No author given]
    • Business Wire, 2014 Jun 3.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
    • Balabanski L, Antov G, Dimova I, Ivanov S, Nacheva M, Gavrilov I, Nesheva D, Rukova B, Hadjidekova S, Malinov M, Toncheva D.
    • Mol Clin Oncol. 2014 May;2(3):435-439. Epub 2014 Feb 4.
    • Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
    • Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.
    • Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.
    • Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
    • Ruiz A, Llort G, Yagüe C, Baena N, Viñas M, Torra M, Brunet A, Seguí MA, Saigí E, Guitart M.
    • Biomed Res Int. 2014;2014:542541. doi: 10.1155/2014/542541. Epub 2014 Jun 26.
    • Multiplex DNA sensor for BRAF and BRCA detection.
    • Ai X, Ma Q, Su X.
    • Anal Biochem. 2013 Jul 1;438(1):22-8. doi: 10.1016/j.ab.2013.02.029. Epub 2013 Mar 13.
    • A New Rapid Methodological Strategy to Assess BRCA Mutational Status.
    • Vuttariello E, Borra M, Calise C, Mauriello E, Greggi S, Vecchione A, Biffali E, Chiappetta G.
    • Mol Biotechnol. 2013 Jul;54(3):954-60. doi: 10.1007/s12033-012-9646-0.
    • Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/BRCA2 Example.
    • De Brakeleer S, De Grève J, Lissens W, Teugels E.
    • Hum Mutat. 2013 May;34(5):785-91. doi: 10.1002/humu.22297. Epub 2013 Mar 11.
    • Construction of label-free electrochemical immunosensor on mesoporous carbon nanospheres for breast cancer susceptibility gene.
    • Fan H, Zhang Y, Wu D, Ma H, Li X, Li Y, Wang H, Li H, Du B, Wei Q.
    • Anal Chim Acta. 2013 Apr 3;770:62-7. doi: 10.1016/j.aca.2013.01.066. Epub 2013 Feb 12.
    • 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.
    • Masojć B, Górski B, van de Wetering T, Dębniak T, Cybulski C, Jakubowska A, Mędrek K, Rudnicka H, Dwight ZL, Lubiński J.
    • Hum Mutat. 2013 Apr;34(4):636-43. doi: 10.1002/humu.22182.
    • 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.
    • Michils G, Hollants S, Dehaspe L, Van Houdt J, Bidet Y, Uhrhammer N, Bignon YJ, Vermeesch JR, Cuppens H, Matthijs G.
    • J Mol Diagn. 2012 Nov;14(6):623-30. doi: 10.1016/j.jmoldx.2012.05.006. Epub 2012 Sep 30.
    • BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
    • Anczuków O, Buisson M, Léoné M, Coutanson C, Lasset C, Calender A, Sinilnikova OM, Mazoyer S.
    • Clin Cancer Res. 2012 Sep 15;18(18):4903-9. doi: 10.1158/1078-0432.CCR-12-1100. Epub 2012 Jul 2.

    Related:

    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.
    • Ozcelik H, Shi X, Chang MC, Tram E, Vlasschaert M, Di Nicola N, Kiselova A, Yee D, Goldman A, Dowar M, Sukhu B, Kandel R, Siminovitch K.
    • J Mol Diagn. 2012 Sep;14(5):467-75. doi: 10.1016/j.jmoldx.2012.03.006. Epub 2012 Aug 6.

    Related:

    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.
    • Pilato B, De Summa S, Danza K, Papadimitriou S, Zaccagna P, Paradiso A, Tommasi S.
    • Mol Biotechnol. 2012 Sep;52(1):8-15. doi: 10.1007/s12033-011-9468-5.
    • 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.
    • Torrezan GT, da Silva FC, Krepischi AC, Dos Santos EM, Rossi BM, Carraro DM.
    • BMC Med Genet. 2012 Jul 16;13:55.
    • Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
    • Brandão RD, Tserpelis D, Gómez García E, Blok MJ.
    • Mol Biol Rep. 2012 Jul;39(7):7429-33. doi: 10.1007/s11033-012-1575-2. Epub 2012 Feb 17.
    • 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.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5.
    • A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
    • Cheeseman K, Rouleau E, Vannier A, Thomas A, Briaux A, Lefol C, Walrafen P, Bensimon A, Lidereau R, Conseiller E, Ceppi M.
    • Hum Mutat. 2012 Jun;33(6):998-1009. doi: 10.1002/humu.22060. Epub 2012 Apr 4.

    Related:

    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.
    • Xu H, Wang L, Ye H, Yu L, Zhu X, Lin Z, Wu G, Li X, Liu X, Chen G.
    • Chem Commun (Camb). 2012 May 22. [Epub ahead of print]
    • Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
    • Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M.
    • J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.
    • Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
    • Jang JH, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH.
    • J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5.
    • Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.
    • Thompson JF, Reifenberger JG, Giladi E, Kerouac K, Gill J, Hansen E, Kahvejian A, Kapranov P, Knope T, Lipson D, Steinmann KE, Milos PM.
    • Genome Res. 2012 Feb;22(2):340-5. doi: 10.1101/gr.122192.111. Epub 2011 Jul 15.
    • Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses.
    • Herman S, Varga D, Deissler HL, Kreienberg R, Deissler H.
    • Genet Mol Biol. 2012 Jan;35(1):53-6. Epub 2012 Jan 6.