Rearrangements of BRCA1/2 ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

List was last updated on Sep 24, 2019 @ 5:24 am.


    • Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients.
    • Fragoso-Ontiveros V, Velázquez-Aragón JA, Nuñez-Martínez PM, de la Luz Mejía-Aguayo M, Vidal-Millán S, Pedroza-Torres A, Sánchez-Contreras Y, Ramírez-Otero MA, Muñiz-Mendoza R, Domínguez-Ortíz J, Wegman-Ostrosky T, Bargalló-Rocha JE, Gallardo-Rincón D, Reynoso-Noveron N, Arriaga-Canon C, Meneses-García A, Herrera-Montalvo LA, Alvarez-Gomez RM.
    • PLoS One. 2019 Sep 23;14(9):e0222709. doi: 10.1371/journal.pone.0222709. eCollection 2019.
    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
    • Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U.
    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • 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]
    • 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
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
    • Cao WM, Zheng YB, Gao Y, Ding XW, Sun Y, Huang Y, Lou CJ, Pan ZW, Peng G, Wang XJ.
    • BMC Cancer. 2019 Jun 7;19(1):551. doi: 10.1186/s12885-019-5765-3.
    • Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    • Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • 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.
    • Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
    • Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.
    • J Med Genet. 2019 Apr 24. pii: jmedgenet-2018-105820. doi: 10.1136/jmedgenet-2018-105820. [Epub ahead of print]
    • Guidelines
    • 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]
    • 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.
    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
    • Seto T, Pujare D, Song MN, Lee J, Huber R, Sam D, Pan M.
    • J Oncol Pract. 2019 Apr 2:JOP1800708. doi: 10.1200/JOP.18.00708. [Epub ahead of print]
    • Case report
    • BRCA Exchange Launches.
    • [No authors listed]
    • Cancer Discov. 2019 Mar;9(3):311-312. doi: 10.1158/2159-8290.CD-NB2019-008. Epub 2019 Jan 24.
    • News
    • 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.
    • Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.
    • Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P.
    • Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2.
    • Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
    • Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.
    • BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.
    • The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
    • Edwinsdotter Ardnor C, Rosén A, Ljuslinder I, Melin B.
    • Fam Cancer. 2019 Jan;18(1):37-42. doi: 10.1007/s10689-018-0098-y.
    • 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
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
    • Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • 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.
    • Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
    • Wang Y, Jiang D, Zhao Q, Huang H, Zhang X, Cui Y, Liu J, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Banerjee S.
    • Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12.
    • BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
    • Solano AR, Liria NC, Jalil FS, Faggionato DM, Mele PG, Mampel A, Cardoso FC, Podesta EJ.
    • Front Oncol. 2018 Aug 21;8:323. doi: 10.3389/fonc.2018.00323. eCollection 2018.
    • BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
    • Cardoso FC, Goncalves S, Mele PG, Liria NC, Sganga L, Diaz Perez I, Podesta EJ, Solano AR.
    • Hum Genomics. 2018 Aug 13;12(1):39. doi: 10.1186/s40246-018-0171-5.
    • 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.
    • Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple-negative or familial breast cancer.
    • Su L, Zhang J, Meng H, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Clin Genet. 2018 Jul;94(1):165-169. doi: 10.1111/cge.13256. Epub 2018 May 3.
    • 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.
    • 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.
    • BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).
    • Boulenouar ACS, Coulet F, Bendiab FMT, Boudinar FZ, Senhadji R.
    • Gulf J Oncolog. 2018 May;1(27):31-37.
    • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
    • Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo S, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, MSc AP, MSc NP, Peterlongo P, Pohl E, Ba NP, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Selkirk CGH, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL; CIMBA Consortium.
    • Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • 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.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
    • Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
    • Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3.
    • Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer.
    • Yazıcı H, Kılıç S, Akdeniz D, Şükrüoğlu Ö, Tuncer ŞB, Avşar M, Kuru G, Çelik B, Küçücük S, Saip P.
    • Eur J Breast Health. 2018 Apr 1;14(2):93-99. doi: 10.5152/ejbh.2017.3799. eCollection 2018 Apr.
    • BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.
    • Jakimovska M, Maleva Kostovska I, Popovska-Jankovic K, Kubelka-Sabit K, Karadjozov M, Stojanovska L, Arsovski A, Smichkoska S, Lazarova E, Jakimovska Dimitrovska M, Plaseska-Karanfilska D.
    • Breast Cancer Res Treat. 2018 Apr;168(3):745-753. doi: 10.1007/s10549-017-4642-5. Epub 2018 Jan 15.
    • 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.
    • Use of deep whole genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.
    • Guo X, Shi J, Cai Q, Shu XO, He J, Wen W, Allen J, Pharoah P, Dunning A, Hunter DJ, Kraft P, Easton DF, Zheng W, Long J.
    • Hum Mol Genet. 2018 Mar 1;27(5):853-859. doi: 10.1093/hmg/ddy005.
    • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
    • Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H.
    • Clin Genet. 2018 Mar;93(3):595-602. doi: 10.1111/cge.13123. Epub 2018 Jan 12.
    • Synchronous Bilateral Tubal Serous Carcinomas in a Patient With Exon 13 Duplication and Loss of Function of BRCA1.
    • Gurda GT, Serdy KM, Yatsenko SA, Rajkovic A, Carter NJ, Ahmed R, Olawaiye AB, Bhargava R, Elishaev E.
    • Int J Gynecol Pathol. 2018 Mar;37(2):117-122. doi: 10.1097/PGP.0000000000000392.
    • 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.
    • "Lazarus Response" to Olaparib in a Virtually Chemonaive Breast Cancer Patient Carrying Gross BRCA2 Gene Deletion.
    • Moiseyenko VM, Chubenko VA, Moiseyenko FV, Zagorskaya LA, Zaytseva YA, Gesha NE, Zykov EN, Ni VI, Preobrazhenskaya EV, Sokolenko AP, Imyanitov EN.
    • Cureus. 2018 Feb 4;10(2):e2150. doi: 10.7759/cureus.2150.
    • Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Papadopoulou E, Metaxa-Mariatou V, Tsirigoti A, Efstathiadou C, Markopoulos C, Xepapadakis G, Venizelos V, Tsiftsoglou A, Natsiopoulos I, Nasioulas G.
    • Cancer Genet. 2018 Jan;220:1-12. doi: 10.1016/j.cancergen.2017.10.002. Epub 2017 Oct 19.
    • 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.
    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
    • Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR.
    • Fam Cancer. 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z.
    • 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.
    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
    • Hirasawa A, Imoto I, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D.
    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • 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.
    • The first case report of a large deletion of the BRCA1 gene in Croatia: A case report.
    • Musani V, Sušac I, Ozretić P, Eljuga D, Levanat S.
    • Medicine (Baltimore). 2017 Dec;96(48):e8667. doi: 10.1097/MD.0000000000008667.
    • 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.
    • Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
    • Jara L, Morales S, de Mayo T, Gonzalez-Hormazabal P, Carrasco V, Godoy R.
    • Biol Res. 2017 Oct 6;50(1):35. doi: 10.1186/s40659-017-0139-2.
    • 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.
    • Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Marín Vera M, Sánchez Bermúdez AI, Macías Cerrolaza JA, Sánchez Henarejos P, Zafra Poves M, García Hernández MR, Cuevas Tortosa E, Aliaga Baño Á, Castillo Guardiola V, Martínez Hernández P, Tovar Zapata I, Martínez Barba E, Ayala de la Peña F, Alonso Romero JL, Noguera Velasco JA, Ruiz Espejo F.
    • Fam Cancer. 2017 Oct;16(4):477-489. doi: 10.1007/s10689-017-9985-x.
    • Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
    • Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E.
    • Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6.
    • Case report
    • Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
    • Solano AR, Cardoso FC, Romano V, Perazzo F, Bas C, Recondo G, Santillan FB, Gonzalez E, Abalo E, Viniegra M, Michel JD, Nuñez LM, Noblia CM, Mc Lean I, Canton ED, Chacon RD, Cortese G, Varela EB, Greco M, Barrientos ML, Avila SA, Vuotto HD, Lorusso A, Podesta EJ, Mando OG.
    • Oncotarget. 2016 Jul 24;8(36):60487-60495. doi: 10.18632/oncotarget.10814. eCollection 2017 Sep 1.
    • Evaluation of BRCA1 Large Genomic Rearrangements in Group of Egyptian Female Breast Cancer Patients Using MLPA.
    • Eid OM, El Ghoroury EA, Eid MM, Mahrous RM, Abdelhamid MI, Aboafya ZI, Abdel Ghaffar EA, Abdelrahman AH.
    • Gulf J Oncolog. 2017 Sep;1(25):64-69.
    • Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.
    • McVeigh TP, Cody N, Carroll C, Duff M, Farrell M, Bradley L, Gallagher D, McDevitt T, Green AJ.
    • Cancer Genet. 2017 Aug;214-215:1-8. doi: 10.1016/j.cancergen.2017.02.001. Epub 2017 Mar 22.
    • Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
    • Torres D, Bermejo JL, Rashid MU, Briceño I, Gil F, Beltran A, Ariza V, Hamann U.
    • Sci Rep. 2017 Jul 5;7(1):4713. doi: 10.1038/s41598-017-05056-y.
    • 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.
    • Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
    • Buleje J, Guevara-Fujita M, Acosta O, Huaman FDP, Danos P, Murillo A, Pinto JA, Araujo JM, Aguilar A, Ponce J, Vigil C, Castaneda C, Calderon G, Gomez HL, Fujita R.
    • Mol Genet Genomic Med. 2017 Jun 28;5(5):481-494. doi: 10.1002/mgg3.301. eCollection 2017 Sep.
    • 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.
    • Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
    • Cheng DT, Prasad M, Chekaluk Y, Benayed R, Sadowska J, Zehir A, Syed A, Wang YE, Somar J, Li Y, Yelskaya Z, Wong D, Robson ME, Offit K, Berger MF, Nafa K, Ladanyi M, Zhang L.
    • BMC Med Genomics. 2017 May 19;10(1):33. doi: 10.1186/s12920-017-0271-4.
    • Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
    • Meisel C, Sadowski CE, Kohlstedt D, Keller K, Stäritz F, Grübling N, Becker K, Mackenroth L, Rump A, Schröck E, Arnold N, Wimberger P, Kast K.
    • Arch Gynecol Obstet. 2017 May;295(5):1227-1238. doi: 10.1007/s00404-017-4330-z. Epub 2017 Mar 21.
    • Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
    • Park B, Sohn JY, Yoon KA, Lee KS, Cho EH, Lim MC, Yang MJ, Park SJ, Lee MH, Lee SY, Chang YJ, Lee DO, Kong SY, Lee ES.
    • Breast Cancer Res Treat. 2017 May;163(1):139-150. doi: 10.1007/s10549-017-4142-7. Epub 2017 Feb 15.
    • 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.
    • Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.
    • Kim DH, Chae H, Jo I, Yoo J, Lee H, Jang W, Park J, Lee GD, Jeon DS, Lee KH, Hur SY, Chae BJ, Song BJ, Kim M, Kim Y.
    • BMC Med Genet. 2017 Mar 28;18(1):38. doi: 10.1186/s12881-017-0398-3.
    • Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
    • Walker LC, Pearson JF, Wiggins GA, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2017 Mar 16;19(1):30. doi: 10.1186/s13058-017-0825-6.
    • Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.
    • Apostolou P, Pertesi M, Aleporou-Marinou V, Dimitrakakis C, Papadimitriou C, Razis E, Christodoulou C, Fountzilas G, Yannoukakos D, Konstantopoulou I, Fostira F.
    • Clin Genet. 2017 Mar;91(3):482-487. doi: 10.1111/cge.12824. Epub 2016 Aug 22.
    • INDELseek: detection of complex insertions and deletions from next-generation sequencing data.
    • Au CH, Leung AY, Kwong A, Chan TL, Ma ES.
    • BMC Genomics. 2017 Jan 5;18(1):16. doi: 10.1186/s12864-016-3449-9.
    • Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Amin A, Loya A, Hamann U.
    • Breast Cancer Res Treat. 2017 Jan;161(2):191-201. doi: 10.1007/s10549-016-4044-0. Epub 2016 Nov 8.
    • Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing.
    • Riahi A, Chabouni-Bouhamed H, Kharrat M.
    • Cancer Genet. 2017 Jan;210:22-27. doi: 10.1016/j.cancergen.2016.11.002. Epub 2016 Nov 18.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • 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.
    • Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
    • Sedghi M, Esfandiari E, Fazel-Najafabadi E, Salehi M, Salavaty A, Fattahpour S, Dehghani L, Nouri N, Mokarian F.
    • J Res Med Sci. 2016 Nov 2;21:95. doi: 10.4103/1735-1995.193167. eCollection 2016.
    • 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.
    • High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
    • Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
    • BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
    • Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.
    • BMC Med Genomics. 2016 Apr 11;9(1):19. doi: 10.1186/s12920-016-0178-5.
    • BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.
    • Ewald IP, Cossio SL, Palmero EI, Pinheiro M, Nascimento IL, Machado TM, Sandes KA, Toralles B, Garicochea B, Izetti P, Pereira ML, Bock H, Vargas FR, Moreira MÂ, Peixoto A, Teixeira MR, Ashton-Prolla P.
    • Genet Mol Biol. 2016 Apr-Jun;39(2):223-31. doi: 10.1590/1678-4685-GMB-2014-0350.
    • The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
    • Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG.
    • Hum Mutat. 2016 Mar;37(3):250-6. doi: 10.1002/humu.22938. Epub 2016 Jan 11.

    "In This Issue"

    Microdeletions, Rearrangements, and Cancer Susceptibility.

    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.
    • Yassaee VR, Ravesh Z, Soltani Z, Hashemi-Gorji F, Poorhosseini SM, Anbiaee R, Joulaee A.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:149-53.
    • Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
    • Henouda S, Bensalem A, Reggad R, Serrar N, Rouabah L, Pujol P.
    • Dis Markers. 2016;2016:7869095. doi: 10.1155/2016/7869095. Epub 2016 Feb 22.
    • Occurrence of a non deleterious gene conversion event in the BRCA1 gene.
    • Tessereau C, Léoné M, Buisson M, Duret L, Sinilnikova OM, Mazoyer S.
    • Genes Chromosomes Cancer. 2015 Oct;54(10):646-52. doi: 10.1002/gcc.22278. Epub 2015 Jul 14.
    • Case report
    • 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.
    • 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.
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
    • James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
    • Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.
    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Identification of a recurrent BRCA1 exon 21-22 genomic rearrangement in Malay breast cancer patients.
    • Hasmad HN, Sivanandan K, Lee V, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2015 Apr;87(4):392-4. doi: 10.1111/cge.12451. Epub 2014 Jul 26.
    • Letter
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
    • Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB.
    • Hered Cancer Clin Pract. 2015 Jan 16;13(1):2. doi: 10.1186/s13053-014-0022-x. eCollection 2015.
    • 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.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • 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.
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
    • Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.
    • First recurrent large genomic rearrangement in the BRCA1 gene found in Poland.
    • Rudnicka H, Masojc B, van de Wetering T, Debniak T, Cybulski C, Gronwald J, Scott R, Lubinski J, Gorski B.
    • Cancer Epidemiol. 2014 Aug;38(4):382-5. doi: 10.1016/j.canep.2014.05.010. Epub 2014 Jun 16.
    • 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.
    • Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
    • Tessereau C, Lesecque Y, Monnet N, Buisson M, Barjhoux L, Léoné M, Feng B, Goldgar DE, Sinilnikova OM, Mousset S, Duret L, Mazoyer S.
    • Nucleic Acids Res. 2014 Aug;42(14):9121-30. doi: 10.1093/nar/gku639. Epub 2014 Jul 17.
    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • 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.
    • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
    • Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL, Stadler ZK, Kauff ND, Offit K, Robson ME, Zhang L.
    • Breast Cancer Res Treat. 2014 Jun;145(3):625-34. doi: 10.1007/s10549-014-2987-6. Epub 2014 May 14.
    • Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.
    • Cho JY, Cho DY, Ahn SH, Choi SY, Shin I, Park HG, Lee JW, Kim HJ, Yu JH, Ko BS, Ku BK, Son BH.
    • Fam Cancer. 2014 Jun;13(2):205-11. doi: 10.1007/s10689-014-9704-9.
    • Expanding the genetic basis of copy number variation in familial breast cancer.
    • Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ.
    • Hered Cancer Clin Pract. 2014 May 24;12(1):15. doi: 10.1186/1897-4287-12-15. eCollection 2014.
    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • 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.
    • BRCA sequencing and large rearrangement testing in young Black women with breast cancer.
    • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S.
    • J Community Genet. 2014 Apr;5(2):157-65. doi: 10.1007/s12687-013-0166-9. Epub 2013 Aug 29.
    • Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.
    • Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A.
    • PLoS One. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014.
    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B.
    • Mol Biol Rep. 2013 Dec;40(12):6619-23. doi: 10.1007/s11033-013-2775-0. Epub 2013 Sep 25.
    • A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
    • Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.
    • Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6.
    • Case report, Letter
    • Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
    • Mahon SM.
    • Oncol Nurs Forum. 2013 May 1;40(3):220-2. doi: 10.1188/13.ONF.220-222.

    Free Medscape-style version: Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care. (Medscape)

    • 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.
    • Functional analysis-Make or break for cancer predictability.
    • Deniz M, Holzmann K, Wiesmüller L.
    • Mutat Res. 2013 Mar-Apr;743-744:132-41. doi: 10.1016/j.mrfmmm.2013.03.009. Epub 2013 Mar 28.
    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
    • Hagag E, Shwaireb M, Coffa J, El Wakil A.
    • East Mediterr Health J. 2013 Mar;19(3):255-62.
    • The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.
    • Palanca S, de Juan I, Perez-Simó G, Barragán E, Chirivella I, Martínez E, Fuster O, Bolufer P.
    • Fam Cancer. 2013 Mar;12(1):119-23. doi: 10.1007/s10689-012-9579-6.
    • Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.
    • Peixoto A, Pinheiro M, Massena L, Santos C, Pinto P, Rocha P, Pinto C, Teixeira MR.
    • J Hum Genet. 2013 Feb;58(2):78-83. doi: 10.1038/jhg.2012.137. Epub 2012 Dec 6.
    • Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network.
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    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
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    Press: Routine BRCA Mutation Testing Urged in Ovarian Cancer. (Medscape/Reuters Health)

    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
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    • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
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    • Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
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    • Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.
    • Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.
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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)

    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
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    • Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.
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    • Review
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