General ~ Variants of Uncertain Significance
~ Genetics of Breast & Ovarian Cancer

References with mention or simple discussion or brief review of VUS, general reviews of VUS, healthcare provider practices concerning VUS, patient understanding/surveys of VUS, database sharing of sequencing results for purposes of clarifying VUS status

List was last updated on Dec 9, 2019 @ 9:12 am.


    • Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
    • Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.
    • J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]
    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • 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]
    • Clinicians Struggle to Interpret Genetic Test Results, Even After Education, Study Finds.
    • Curtin C.
    • GenomeWeb. 2019 Nov 8.
    • Ethnic disparities among men with prostate cancer undergoing germline testing.
    • Kwon DH, Borno HT, Cheng HH, Zhou AY, Small EJ.
    • Urol Oncol. 2019 Oct 17. pii: S1078-1439(19)30361-8. doi: 10.1016/j.urolonc.2019.09.010. [Epub ahead of print]
    • Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests.
    • [No author given]
    • GenomeWeb. 2019 Oct 4.
    • News
    • Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
    • Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E.
    • JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900.

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

    • A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
    • Esposito MV, Minopoli G, Esposito L, D'Argenio V, Di Maggio F, Sasso E, D'Aiuto M, Zambrano N, Salvatore F.
    • Cancers (Basel). 2019 Sep 28;11(10). pii: E1454. doi: 10.3390/cancers11101454.
    • Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
    • Wu B, Peng Y, Eggert J, Alexov E.
    • Int J Mol Sci. 2019 Sep 28;20(19). pii: E4828. doi: 10.3390/ijms20194828.
    • Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study.
    • Brédart A, Kop JL, Dick J, Cano A, De Pauw A, Anota A, Brunet J, Devilee P, Stoppa-Lyonnet D, Schmutzler R, Dolbeault S.
    • BMJ Open. 2019 Sep 24;9(9):e029926. doi: 10.1136/bmjopen-2019-029926.
    • Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.
    • Ndugga-Kabuye MK, Issaka RB.
    • Fam Cancer. 2019 Sep 17. doi: 10.1007/s10689-019-00144-6. [Epub ahead of print]
    • Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
    • Petrovics G, Price DK, Lou H, Chen Y, Garland L, Bass S, Jones K, Kohaar I, Ali A, Ravindranath L, Young D, Cullen J, Dorsey TH, Sesterhenn IA, Brassell SA, Rosner IL, Ross D, Dahut W, Ambs S, Figg WD, Srivastava S, Dean M.
    • Prostate Cancer Prostatic Dis. 2019 Sep;22(3):406-410. doi: 10.1038/s41391-018-0114-1. Epub 2018 Dec 12.
    • 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]
    • An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Piccinin C, Panchal S, Watkins N, Kim RH.
    • Expert Rev Anticancer Ther. 2019 Aug 30. doi: 10.1080/14737140.2019.1659730. [Epub ahead of print]
    • Review
    • Universal Genetic Testing for All Breast Cancer Patients.
    • Copur MS.
    • Oncology (Williston Park). 2019 Aug 23;33(8). pii: 683731.
    • The implications of genetic testing on radiotherapy decisions: a guide for radiation oncologists.
    • Bergom C, West CM, Higginson DS, Abazeed ME, Arun B, Bentzen SM, Bernstein JL, Evans JD, Gerber NK, Kerns SL, Keen J, Litton JK, Reiner AS, Riaz N, Rosenstein BS, Sawakuchi GO, Shaitelman SF, Powell SN, Woodward WA.
    • Int J Radiat Oncol Biol Phys. 2019 Aug 2. pii: S0360-3016(19)33530-8. doi: 10.1016/j.ijrobp.2019.07.026. [Epub ahead of print]
    • Review
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.
    • Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, Boolbol SK, Taylor WA.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07549-8. [Epub ahead of print]
    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
    • Amendola LM, Hart MR, Bennett RL, Horike-Pyne M, Dorschner M, Shirts B, Jarvik GP.
    • J Genet Couns. 2019 Jul 17. doi: 10.1002/jgc4.1155. [Epub ahead of print]
    • Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
    • Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium.
    • Hum Mutat. 2019 Jul 11. doi: 10.1002/humu.23861. [Epub ahead of print]
    • Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening.
    • Tuncel G, Ergören MÇ.
    • Med Oncol. 2019 Jul 3;36(8):71. doi: 10.1007/s12032-019-1294-9.
    • Review
    • Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
    • So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC, Huh J.
    • Breast Cancer. 2019 Jul;26(4):510-519. doi: 10.1007/s12282-019-00951-w. Epub 2019 Feb 6.
    • Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.
    • Toland AE, Brody LC; BIC Steering Committee.
    • Genet Med. 2019 Jul;21(7):1476-1480. doi: 10.1038/s41436-018-0370-4. Epub 2018 Nov 26.
    • Review
    • Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
    • Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
    • Genet Med. 2019 Jul;21(7):1497-1506. doi: 10.1038/s41436-018-0361-5. Epub 2018 Dec 3.
    • The 34th Annual Meeting of the Korean Society of Gynecologic Oncology 2019: meeting report.
    • Yim GW, Suh DH, Kim JW, Kim SC, Kim YT.
    • J Gynecol Oncol. 2019 Jul;30(4):e91. doi: 10.3802/jgo.2019.30.e91.
    • Multi gene panel testing for hereditary breast cancer - is it ready to be used?
    • Catana A, Apostu AP, Antemie RG.
    • Med Pharm Rep. 2019 Jul;92(3):220-225. doi: 10.15386/mpr-1083. Epub 2019 Jul 31.
    • Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?
    • Copur MS, Jonglertham P, Zusag T.
    • J Clin Oncol. 2019 Jun 27:JCO1900064. doi: 10.1200/JCO.19.00064. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
    • Taylor A, Tischkowitz M.
    • J Clin Oncol. 2019 Jun 27:JCO1900122. doi: 10.1200/JCO.19.00122. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Assessing the performance of in-silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
    • Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD, Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner S, Kann M.
    • Hum Mutat. 2019 Jun 26. doi: 10.1002/humu.23849. [Epub ahead of print]
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
    • Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.
    • Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.
    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jun;45:29-35. doi: 10.1016/j.breast.2019.01.002. Epub 2019 Jan 8.
    • Review
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
    • Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.
    • Hum Mutat. 2019 May 27. doi: 10.1002/humu.23818. [Epub ahead of print]
    • 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]
    • Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.
    • Garg A, Pal D.
    • Hum Mutat. 2019 May 20. doi: 10.1002/humu.23800. [Epub ahead of print]
    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
    • Curr Genet Med Rep. 2019 May 17. doi: 10.1007/s40142-019-00168-5. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling.
    • Esteban I, Lopez-Fernandez A, Balmaña J.
    • Eur J Med Genet. 2019 May;62(5):342-349. doi: 10.1016/j.ejmg.2018.11.027. Epub 2018 Nov 23.
    • Review
    • 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]
    • Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
    • Yost S, Ruark E, Alexandrov LB, Rahman N.
    • JNCI Cancer Spectr. 2019 Apr 19;3(2):pkz028. doi: 10.1093/jncics/pkz028. eCollection 2019 Jun.
    • Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.
    • Peters MLB, Stobie L, Dudley B, Karloski E, Allen K, Speare V, Dolinsky JS, Tian Y, DeLeonardis K, Krejdovsky J, Button A, Lim C, Borazanci E, Brand R, Tung N.
    • Cancer. 2019 Apr 12. doi: 10.1002/cncr.32077. [Epub ahead of print]
    • Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.
    • Golubeva VA, Nepomuceno TC, Monteiro ANA.
    • Cancers (Basel). 2019 Apr 12;11(4). pii: E522. doi: 10.3390/cancers11040522.
    • Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
    • Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.
    • J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14.
    • Variant classification changes over time in BRCA1 and BRCA2.
    • Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.
    • Genet Med. 2019 Apr 11. doi: 10.1038/s41436-019-0493-2. [Epub ahead of print]
    • Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
    • Spurdle AB, Greville-Heygate S, Antoniou AC, Brown M, Burke L, de la Hoya M, Domchek S, Dörk T, Firth HV, Monteiro AN, Mensenkamp A, Parsons MT, Radice P, Robson M, Tischkowitz M, Tudini E, Turnbull C, Vreeswijk MP, Walker LC, Tavtigian S, Eccles DM.
    • J Med Genet. 2019 Apr 8. pii: jmedgenet-2018-105872. doi: 10.1136/jmedgenet-2018-105872. [Epub ahead of print]
    • Review, Guidelines
    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
    • Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.
    • BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.
    • Germline Genetic Testing: What the Breast Surgeon Needs to Know.
    • Plichta JK, Sebastian ML, Smith LA, Menendez CS, Johnson AT, Bays SM, Euhus DM, Clifford EJ, Jalali M, Kurtzman SH, Taylor WA, Hughes KS.
    • Ann Surg Oncol. 2019 Apr 2. doi: 10.1245/s10434-019-07341-8. [Epub ahead of print]
    • Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.
    • Smith MJ, Woodward ER, Burghel GJ, Banks C, Morgan RD, Wallace AJ, Turnbull C, Evans DG.
    • Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26.
    • Letter
    • Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views.
    • Medendorp NM, Hillen MA, Murugesu L, Aalfs CM, Stiggelbout AM, Smets EMA.
    • J Community Genet. 2019 Apr;10(2):303-312. doi: 10.1007/s12687-018-0393-1. Epub 2018 Nov 14.
    • Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
    • Adamovich AI, Banerjee T, Wingo M, Duncan K, Ning J, Martins Rodrigues F, Huang KL, Lee C, Chen F, Ding L, Parvin JD.
    • PLoS Genet. 2019 Mar 29;15(3):e1008049. doi: 10.1371/journal.pgen.1008049. [Epub ahead of print]
    • Experiences and interpretations of BRCA1/2 testing among women affected by breast or ovarian cancer who received a negative result.
    • Stafford L, Flehr A, Judd F, Lindeman GJ, Gibson P, Komiti A, Mann GB, Kentwell M.
    • J Community Genet. 2019 Mar 27. doi: 10.1007/s12687-019-00415-w. [Epub ahead of print]
    • Breast surgeons recommend genetic testing for all breast cancer patients.
    • [No author given]
    • FORCE. XRAYS. 2019 Mar 25.

    Guideline: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. (PDF) (American Society of Breast Surgeons.)

    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Mar 20. doi: 10.1001/jama.2019.0967. [Epub ahead of print]

    Original research:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling.
    • [No author given.]
    • Clinical OMICs. 2019 Mar 19.

    Original research:

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
    • Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.
    • Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer.
    • Willoughby A, Andreassen PR, Toland AE.
    • J Pers Med. 2019 Mar 1;9(1). pii: E15. doi: 10.3390/jpm9010015.
    • BRCA1/2 Variant Data-Sharing Practices.
    • Bollinger JM, Sanka A, Dolman L, Liao RG, Cook-Deegan R.
    • J Law Med Ethics. 2019 Mar;47(1):88-96. doi: 10.1177/1073110519840487.
    • Mainstreamed genetic testing for women with ovarian cancer: first-year experience.
    • Rahman B, Lanceley A, Kristeleit RS, Ledermann JA, Lockley M, McCormack M, Mould T, Side L.
    • J Med Genet. 2019 Mar;56(3):195-198. doi: 10.1136/jmedgenet-2017-105140. Epub 2018 Mar 13.
    • The influence of BRCA variants of unknown significance on cancer risk management decision-making.
    • Chern JY, Lee SS, Frey MK, Lee J, Blank SV.
    • J Gynecol Oncol. 2019 Feb 27. doi: 10.3802/jgo.2019.30.e60. [Epub ahead of print]

    Editorial:

    Clinical significance of variants of unknown significances in BRCA genes.

    • Toward automation of germline variant curation in clinical cancer genetics.
    • Ravichandran V, Shameer Z, Kemel Y, Walsh M, Cadoo K, Lipkin S, Mandelker D, Zhang L, Stadler Z, Robson M, Offit K, Vijai J.
    • Genet Med. 2019 Feb 21. doi: 10.1038/s41436-019-0463-8. [Epub ahead of print]
    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.
    • Manahan ER, Sebastian M, Hughes KS, Boughey JC, Kuerer HM, Euhus DM, Robson ME, Boolbol SK, Arun BK, Taylor WA.
    • American Society of Breast Surgeons. 2019 Feb 10.

    Press: ASBrS Calls for Genetic Testing for All Breast Cancer Patients. (Medscape Oncology)

    News: Breast surgeons recommend genetic testing for all breast cancer patients. (FORCE. XRAYS.)

    • The impact of variant classification on the clinical management of hereditary cancer syndromes.
    • Turner SA, Rao SK, Morgan RH, Vnencak-Jones CL, Wiesner GL.
    • Genet Med. 2019 Feb;21(2):426-430. doi: 10.1038/s41436-018-0063-z. Epub 2018 Jun 6.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • The effects of genomic germline variant reclassification on clinical cancer care.
    • Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN.
    • Oncotarget. 2019 Jan 11;10(4):417-423. doi: 10.18632/oncotarget.26501. eCollection 2019 Jan 11.
    • Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
    • Fernández-Lopez JC, Romero-Córdoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Piña V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A.
    • Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.
    • BRCA mutations: is everything said?
    • López-Urrutia E, Salazar-Rojas V, Brito-Elías L, Coca-González M, Silva-García J, Sánchez-Marín D, Campos-Parra AD, Pérez-Plasencia C.
    • Breast Cancer Res Treat. 2019 Jan;173(1):49-54. doi: 10.1007/s10549-018-4986-5. Epub 2018 Oct 6.
    • Review
    • Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
    • Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG.
    • Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.
    • Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    • Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network.
    • Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. [Epub ahead of print]
    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
    • Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW.
    • J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10.
    • Big Data Sharing: A Crucial Democratic Issue for Genomic Medicine.
    • Derbez B.
    • Front Public Health. 2018 Nov 28;6:334. doi: 10.3389/fpubh.2018.00334. eCollection 2018.
    • A narrative overview of the patients’ outcomes after multigene cancer panel testing: Thorough evaluation of its implications for genetic counselling.
    • Estebana I, Lopez-Fernandez A, Balmaña J.
    • Eur J Med Genet. 2018 Nov 23. pii: S1769-7212(18)30422-1. doi: 10.1016/j.ejmg.2018.11.027. [Epub ahead of print]
    • Review, Comment
    • Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
    • Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
    • Cancers (Basel). 2018 Nov 16;10(11). pii: E453. doi: 10.3390/cancers10110453.
    • Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization.
    • Makhnoon S, Shirts BH, Bowen DJ, Fullerton SM.
    • Genet Med. 2018 Nov;20(11):1438-1445. doi: 10.1038/gim.2018.23. Epub 2018 Mar 1.
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    • Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
    • Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer.
    • Katz SJ, Ward KC, Hamilton AS, Abrahamse P, Hawley ST, Kurian AW.
    • JCO Precis Oncol. 2018 Nov;2018. doi: 10.1200/PO.18.00225. Epub 2018 Dec 19.

    Research news: Genetic testing does not cause undue worry for breast cancer patients. (Rogel Cancer Center. Michigan Medicine)

    Press: Multi-Gene Panel Breast Cancer Tests Don't Faze Women. (Medscape Oncology)

    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • Accurate classification of BRCA1 variants with saturation genome editing.
    • Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J4.
    • Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

    Research News: Gene editing reveals the effect of thousands of variants in a key cancer gene (Nature)

    Research News: A CRISPR Approach for Accurately Classifying BRCA1 Variants. (Medscape Oncology)

    Research News: A new method for determining whether genetic variants in BRCA1 increase cancer risk. (FORCE XRAYS)

    Research news:

    Technique Pinpoints Oncogenic BRCA1 Mutations.

    • Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
    • Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox HC, Brown K, Aston M, Esterling L, Manley S, Ross T.
    • JAMA. 2018 Sep 25;320(12):1266-1274. doi: 10.1001/jama.2018.13152.

    Editorial:

    Making Sense of the Genome Remains a Work in Progress

    Editorial:

    Multitiered Questions Regarding Multigene Testing for Cancer Susceptibility.

    • Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
    • Zuntini R, Ferrari S, Bonora E, Buscherini F, Bertonazzi B, Grippa M, Godino L, Miccoli S, Turchetti D.
    • Front Genet. 2018 Sep 11;9:378. doi: 10.3389/fgene.2018.00378. eCollection 2018.
    • Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
    • Reap L, Ahsan S, Saleh M.
    • Clin Breast Cancer. 2018 Aug;18(4):e431-e439. doi: 10.1016/j.clbc.2018.03.015. Epub 2018 Apr 6.
    • Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
    • Rahman S, Zayed H.
    • Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.
    • Review
    • Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.
    • Zirkelbach E, Hashmi S, Ramdaney A, Dunnington L, Ashfaq M, Nugent EK, Wilson K.
    • J Genet Couns. 2018 Aug;27(4):761-769. doi: 10.1007/s10897-017-0184-6. Epub 2017 Dec 20.
    • From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.
    • Augusto BM, Lake P, Scherr CL, Couch FJ, Lindor NM, Vadaparampil ST.
    • J Community Genet. 2018 Jul;9(3):209-215. doi: 10.1007/s12687-017-0343-3. Epub 2017 Nov 9.
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
    • Petelin L, Liew D, Mitchell G, James PA, Trainer AH.
    • Value Health. 2018 Jul;21(7):891-893. doi: 10.1016/j.jval.2018.02.009. Epub 2018 May 16.
    • Letter

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

    • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 28.

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

    • Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
    • Hamdi Y, Boujemaa M, Ben Rekaya M, Ben Hamda C, Mighri N, El Benna H, Mejri N, Labidi S, Daoud N, Naouali C, Messaoud O, Chargui M, Ghedira K, Boubaker MS, Mrad R, Boussen H, Abdelhak S; PEC Consortium.
    • J Transl Med. 2018 Jun 7;16(1):158. doi: 10.1186/s12967-018-1504-9.
    • Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
    • Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK.
    • Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
    • Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
    • Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM.
    • Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018.
    • Risk management decisions in women with BRCA1 and BRCA2 mutations.
    • Morgan R, Brown A, Hamman KJ, Sampson J, Naik A, Massimino K.
    • Am J Surg. 2018 May;215(5):899-903. doi: 10.1016/j.amjsurg.2018.02.010. Epub 2018 Feb 13.
    • Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.
    • Kechin AA, Boyarskikh UA, Ermolenko NA, Tyulyandina AS, Lazareva DG, Avdalyan AM, Tyulyandin SA, Kushlinskii NE, Filipenko ML.
    • Bull Exp Biol Med. 2018 May;165(1):94-100. doi: 10.1007/s10517-018-4107-9. Epub 2018 May 24.
    • BRCA1/2 germline missense mutations: a systematic review.
    • Corso G, Feroce I, Intra M, Toesca A, Magnoni F, Sargenti M, Naninato P, Caldarella P, Pagani G, Vento A, Veronesi P, Bonanni B, Galimberti V.
    • Eur J Cancer Prev. 2018 May;27(3):279-286. doi: 10.1097/CEJ.0000000000000337.
    • Review
    • Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
    • Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.
    • Med Sci Monit. 2018 Apr 23;24:2465-2475.
    • 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.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
    • Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR.
    • J Am Coll Surg. 2018 Apr;226(4):560-565. doi: 10.1016/j.jamcollsurg.2017.12.037. Epub 2018 Jan 31.
    • Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
    • Ernst C, Hahnen E, Engel C, Nothnagel M, Weber J, Schmutzler RK, Hauke J.
    • BMC Med Genomics. 2018 Mar 27;11(1):35. doi: 10.1186/s12920-018-0353-y.
    • False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
    • Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.
    • Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.38. [Epub ahead of print]

    Commentary:

    Attention: Direct-To-Consumer patrons: Proceed with caution.

    Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)

    Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)

    Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)

    • Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
    • Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.
    • Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.
    • Factors influencing the decision to share cancer genetic results among family members: an in-depth interview study of women in an Asian setting.
    • Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S, Lim GH, Ngeow J.
    • Psychooncology. 2018 Mar;27(3):998-1004. doi: 10.1002/pon.4627. Epub 2018 Jan 24.
    • 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.
    • Population-Based Genetic Testing for BRCA1 and BRCA2.
    • Narod S, Akbari MR.
    • J Clin Oncol. 2018 Feb 10;36(5):517. doi: 10.1200/JCO.2017.75.8490. Epub 2018 Jan 2.
    • Letter

    Editorial:

    Genetic Testing: What Problem Are We Trying to Solve?

    National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

    Letter, Comment:

    Reply to S. Nakamura et al and S. Narod et al.

    • Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    • Guidugli L, Shimelis H, Masica DL, Pankratz VS, Lipton GB, Singh N, Hu C, Monteiro ANA, Lindor NM, Goldgar DE, Karchin R, Iversen ES, Couch FJ.
    • Am J Hum Genet. 2018 Feb 1;102(2):233-248. doi: 10.1016/j.ajhg.2017.12.013. Epub 2018 Jan 25.
    • Changes in classification of genetic variants in BRCA1 and BRCA2.
    • Kast K, Wimberger P, Arnold N.
    • Arch Gynecol Obstet. 2018 Feb;297(2):279-280. doi: 10.1007/s00404-017-4631-2. Epub 2018 Jan 4.
    • Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
    • Caswell-Jin JL, Gupta T, Hall E, Petrovchich IM, Mills MA, Kingham KE, Koff R, Chun NM, Levonian P, Lebensohn AP, Ford JM, Kurian AW.
    • Genet Med. 2018 Feb;20(2):234-239. doi: 10.1038/gim.2017.96. Epub 2017 Jul 27.
    • Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
    • Liang MI, Wong DH, Walsh CS, Farias-Eisner R, Cohen JG.
    • J Genet Couns. 2018 Feb;27(1):177-186. doi: 10.1007/s10897-017-0135-2. Epub 2017 Aug 7.
    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
    • Ecancermedicalscience. 2018 Jan 30;12:804. doi: 10.3332/ecancer.2018.804. eCollection 2018.
    • 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.
    • Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
    • Harvey LFB, Abramson VG, Alvarez J, DeStephano C, Hur HC, Lee K, Mattingly P, Park B, Piszczek C, Seifi F, Stuparich M, Yunker A.
    • J Minim Invasive Gynecol. 2018 Jan;25(1):111-115. doi: 10.1016/j.jmig.2017.08.643. Epub 2017 Aug 15.
    • SABCS 2017 pathology: from bench to bedside.
    • Bago-Horvath Z.
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    • Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
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    • J Clin Oncol. 2017 Dec 1;35(34):3796-3799. doi: 10.1200/JCO.2017.74.5182. Epub 2017 Oct 5.
    • VUS Reclassified to "Suspected Deleterious": When Genetic Counseling Updates Become Life-Saving.
    • [No author given]
    • My Gene Counsel. 2017 Nov 30.
    • BRCA1/2 missense mutations and the value of in-silico analyses.
    • Sadowski CE, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, Rump A, Schröck E, Wimberger P, Kast K.
    • Eur J Med Genet. 2017 Nov;60(11):572-577. doi: 10.1016/j.ejmg.2017.08.005. Epub 2017 Aug 12.
    • DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
    • Toland AE, Andreassen PR.
    • J Med Genet. 2017 Nov;54(11):721-731. doi: 10.1136/jmedgenet-2017-104707. Epub 2017 Sep 2.
    • Functional analysis of BRCT missense mutations in BRCA1-mutated Chinese Han familial breast cancer.
    • Zhang H, Li L, Wang Y, Yin CC, Xie Y, Liu X, Ding H, Tian Z, Shen J, He L, Xia M, Ma X, Wu L.
    • Oncol Lett. 2017 Nov;14(5):5839-5844. doi: 10.3892/ol.2017.7003. Epub 2017 Sep 19.
    • Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes.
    • King E, Mahon SM.
    • Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.
    • Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes.
    • Welsh JL, Hoskin TL, Day CN, Thomas AS, Cogswell JA, Couch FJ, Boughey JC.
    • Ann Surg Oncol. 2017 Oct;24(10):3067-3072. doi: 10.1245/s10434-017-5959-3. Epub 2017 Aug 1.
    • Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.
    • Lumish HS, Steinfeld H, Koval C, Russo D, Levinson E, Wynn J, Duong J, Chung WK.
    • J Genet Couns. 2017 Oct;26(5):1116-1129. doi: 10.1007/s10897-017-0090-y. Epub 2017 Mar 29.

    Letter:

    Anxiety and Hereditary Testing Results.

    Letter, Reply:

    Response to Dr. Sorscher.

    • Anxiety and Hereditary Testing Results.
    • Sorscher S.
    • J Genet Couns. 2017 Oct;26(5):1162–1163. doi: 10.1007/s10897-017-0109-4. Epub 2017 May 24.
    • Letter

    Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.

    Letter, Reply:

    Response to Dr. Sorscher.

    • Application of Panel-Based Tests for Inherited Risk of Cancer.
    • Shah PD, Nathanson KL.
    • Annu Rev Genomics Hum Genet. 2017 Aug 31;18:201-227. doi: 10.1146/annurev-genom-091416-035305. Epub 2017 May 15.
    • Review
    • A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
    • Ellison G, Wallace A, Kohlmann A, Patton S.
    • Br J Cancer. 2017 Aug 22;117(5):710-716. doi: 10.1038/bjc.2017.223. Epub 2017 Jul 27.
    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
    • Rummel SK, Lovejoy L, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.
    • Next-Generation Sequencing in Order to Better Characterize a BRCA Variant of Uncertain Significance.
    • Sorscher S, Ramkissoon S.
    • Case Rep Oncol. 2017 Jul 11;10(2):634-637. doi: 10.1159/000478005. eCollection 2017 May-Aug.
    • Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.
    • Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, McLeod MC, Jagsi R, Katz SJ.
    • J Clin Oncol. 2017 Jul 10;35(20):2232-2239. doi: 10.1200/JCO.2016.71.6480. Epub 2017 Apr 12.

    Press: Lack of Understanding of Genetic Breast Cancer Testing. (Medscape)

    • Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
    • Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL.
    • JCO Precis Oncol. 2017 Jul;1. doi: 10.1200/PO.16.00020. Epub 2017 Apr 11.
    • Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.
    • Gradishar W, Johnson K, Brown K, Mundt E, Manley S.
    • Oncologist. 2017 Jul;22(7):797-803. doi: 10.1634/theoncologist.2016-0431. Epub 2017 Apr 13.

    Letter, Comment:

    ClinVar Is a Critical Resource to Advance Variant Interpretation.

    Letter, Reply:

    In Reply.

    • 4 Years Post-Gene Patents: How Has Life Changed In The Genomics World?
    • [No author given]
    • My Gene Counsel. 2017 Jun 13.
    • Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.
    • Schott S, Vetter L, Keller M, Bruckner T, Golatta M, Eismann S, Dikow N, Evers C, Sohn C, Heil J.
    • Arch Gynecol Obstet. 2017 Jun;295(6):1451-1458. doi: 10.1007/s00404-017-4376-y. Epub 2017 Apr 24.
    • Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age.
    • Seo J, Ivanovich J, Goodman MS, Biesecker BB, Kaphingst KA.
    • J Genet Couns. 2017 Jun;26(3):511-521. doi: 10.1007/s10897-016-0006-2. Epub 2016 Aug 20.
    • Myriad take two: Can genomic databases remain secret?
    • Guerrini CJ, McGuire AL, Majumder MA.
    • Science. 2017 May 12;356(6338):586-587. doi: 10.1126/science.aal3224.
    • Commentary
    • [China expert consensus on BRCA variant interpretation].
    • Panel members of China expert consensus on BRCA variant interpretation.
    • Zhonghua Bing Li Xue Za Zhi. 2017 May 8;46(5):293-297. doi: 10.3760/cma.j.issn.0529-5807.2017.05.002.
    • [Article in Chinese]
    • 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.
    • Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han J, Lee JY, Kim SW, Kim S, Kim YT, Nam EJ.
    • Cancer Res Treat. 2017 Apr;49(2):408-415. doi: 10.4143/crt.2016.135. Epub 2016 Jul 27.
    • Second Opinions From Medical Oncologists for Early-Stage Breast Cancer: Prevalence, Correlates, and Consequences.
    • Kurian AW, Friese CR, Bondarenko I, Jagsi R, Li Y, Hamilton AS, Ward KC, Katz SJ.
    • JAMA Oncol. 2017 Mar 1;3(3):391-397. doi: 10.1001/jamaoncol.2016.5652.
    • Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.
    • Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.
    • BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.
    • Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
    • Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE.
    • Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7.
    • Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer.
    • Foote JR, Lopez-Acevedo M, Buchanan AH, Secord AA, Lee PS, Fountain C, Myers ER, Cohn DE, Reed SD, Havrilesky LJ.
    • J Oncol Pract. 2017 Feb;13(2):e120-e129. doi: 10.1200/JOP.2016.011866. Epub 2017 Jan 3.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Always Handy

    • Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.
    • Hermel DJ, McKinnon WC, Wood ME, Greenblatt MS.
    • Fam Cancer. 2017 Jan;16(1):159-166. doi: 10.1007/s10689-016-9913-5.

    Letter:

    Patients with negative multi-gene panel testing: a back to the future paradox?

    Letter:

    Placing negative multi-gene panel results into clinical context.

    • A Lens for Evaluating Genetic Information Governance Models: Balancing Equity, Efficiency and Sustainability.
    • Skorve E, Vassilakopoulou P, Aanestad M, Grünfeld T.
    • Stud Health Technol Inform. 2017;235:298-302.
    • Next-generation sequencing: advances and applications in cancer diagnosis.
    • Serratì S, De Summa S, Pilato B, Petriella D, Lacalamita R, Tommasi S, Pinto R.
    • Onco Targets Ther. 2016 Dec 2;9:7355-7365. eCollection 2016.
    • Breast Cancer: Genetics and Risk Assessment.
    • Tejada-Bergés T.
    • Clin Obstet Gynecol. 2016 Dec;59(4):673-687.
    • Routine use of gene panel testing in hereditary breast cancer should be performed with caution.
    • van Marcke C, De Leener A, Berlière M, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2016 Dec;108:33-39. doi: 10.1016/j.critrevonc.2016.10.008. Epub 2016 Oct 29.
    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
    • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM.
    • J Clin Oncol. 2016 Dec;34(34):4071-4078. Epub 2016 Sep 30.

    Letter:

    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

    Letter:

    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • As revenue falls, a pioneer of cancer gene testing slams rivals with overblown claims.
    • Sharon Begley
    • STAT. 2016 Nov 29.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Variant calling

    • Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer.
    • Eismann S, Vetter L, Keller M, Bruckner T, Golatta M, Hennings A, Domschke C, Dikow N, Sohn C, Heil J, Schott S.
    • Arch Gynecol Obstet. 2016 Nov;294(5):1011-1018. Epub 2016 Jun 10.
    • Assessing, Counseling, and Treating Patients at High Risk for Breast Cancer.
    • Clifford E, Hughes KS, Roberts M, Pirzadeh-Miller S, McLaughlin SA.
    • Ann Surg Oncol. 2016 Oct;23(10):3128-32. doi: 10.1245/s10434-016-5399-5. Epub 2016 Jul 11.
    • Review
    • Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?
    • Cragun D, Scherr C, Camperlengo L, Vadaparampil ST, Pal T.
    • Genet Test Mol Biomarkers. 2016 Oct;20(10):569-578. Epub 2016 Aug 15.
    • Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.
    • Cobain EF, Milliron KJ, Merajver SD.
    • Semin Oncol. 2016 Oct;43(5):528-535. doi: 10.1053/j.seminoncol.2016.10.001. Epub 2016 Oct 8.
    • Review
    • Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer
    • ASBS Research committee
    • The American Society of Breast Surgeons. www.breastsurgeons.org. 2016 Sep 13.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    • HIPAA complaint alleges myriad genetics withheld variant data from patients: Allegation highlights the importance of data sharing, new HIPAA guidance.
    • [No authors listed]
    • Am J Med Genet A. 2016 Sep;170(9):2234-5. doi: 10.1002/ajmg.a.37886.
    • New challenges for BRCA testing: a view from the diagnostic laboratory.
    • Wallace AJ.
    • Eur J Hum Genet. 2016 Sep;24 Suppl 1:S10-8. doi: 10.1038/ejhg.2016.94.
    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
    • Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS, Sharpless N, Hayes DN, Berg JS.
    • Clin Cancer Res. 2016 Aug 15;22(16):4087-94. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.

    Editorial / Commentary

    Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients.

    • Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis.
    • Castro M, Vierkoetter K, Prager D, Montgomery S, Sedgwick K.
    • Case Rep Oncol. 2016 Jul 21;9(2):387-394.
    • Genomics in Clinical Practice, Part 1: The Rise of Multiplex Gene Testing for Cancer.
    • Kate M. O'Rourke
    • Medscape Oncology. Coverage from the American Society of Clinical Oncology (ASCO) 2016 Annual Meeting. 2016 Jul 20.
    • 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

    • Variant classifications in BRCA1 and BRCA2: A systematic analysis of interlaboratory concordance.
    • Lincoln SE, Cline M, Yang S, Kobayashi Y, Zhang M, O'Leary E, Topper S, Paten B, Nussbaum R.
    • J Clin Oncol. 2016 May 20;34(15s):1592.
    • Conference abstract
    • Myriad Genetics embroiled in breast-cancer data fight - again.
    • Check Hayden E.
    • Nature. 2016 May 20;533(7604):449. doi: 10.1038/nature.2016.19953.
    • Patients challenge Myriad Genetics for access to their gene data.
    • Leah Samuel.
    • STAT. Health. 2016 May 19.
    • Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group.
    • Kerkhofs CH, Spurdle AB, Lindsey PJ, Goldgar DE, Gómez-García EB.
    • Hered Cancer Clin Pract. 2016 Apr 30;14:10. doi: 10.1186/s13053-016-0050-9. eCollection 2016.
    • When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance.
    • Gina Kolata.
    • New York Times. Health. 2016 Mar 11.
    • Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.
    • Ngeow J, Eng C.
    • NPJ Genom Med. 2016 Jan 13;1:15006. doi: 10.1038/npjgenmed.2015.6. eCollection 2016.
    • Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
    • Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A.
    • Int J Breast Cancer. 2016;2016:2469523. Epub 2016 Oct 16.
    • DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.
    • Yang S, Cline M, Zhang C, Paten B, Lincoln SE.
    • Pac Symp Biocomput. 2016;22:166-176.
    • 2016 Genetics Toolkit
    • Society of Gynecologic Oncology
    • Society of Gynecologic Oncology. 2016.

    News: New Toolkit Can Help Debunk Myths About Genetic Testing for Gynecologic Cancer. (Cure)

    • Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.
    • Scherr CL, Lindor NM, Malo TL, Couch FJ, Vadaparampil ST.
    • Clin Genet. 2015 Dec;88(6):523-9. doi: 10.1111/cge.12563. Epub 2015 Feb 26.
    • Understanding of BRCA VUS genetic results by breast cancer specialists.
    • Eccles BK, Copson E, Maishman T, Abraham JE, Eccles DM.
    • BMC Cancer. 2015 Nov 25;15(1):936. doi: 10.1186/s12885-015-1934-1.
    • Molding BRCA2 function through its interacting partners.
    • Martinez JS, Baldeyron C, Carreira A.
    • Cell Cycle. 2015 Nov 2;14(21):3389-95. doi: 10.1080/15384101.2015.1093702.
    • Review
    • BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
    • Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group.
    • Ann Oncol. 2015 Oct;26(10):2057-65. doi: 10.1093/annonc/mdv278. Epub 2015 Jul 7.
    • Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.
    • Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.
    • Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. eCollection 2015.
    • Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
    • Cochran RL, Cidado J, Kim M, Zabransky DJ, Croessmann S, Chu D, Wong HY, Beaver JA, Cravero K, Erlanger B, Parsons H, Heaphy CM, Meeker AK, Lauring J, Park BH.
    • Oncotarget. 2015 Sep 22;6(28):25240-51. doi: 10.18632/oncotarget.4595.
    • Genetic Testing Can Lead to Insights — Or Uncertainty.
    • Lauren M. Green.
    • Cure. 2015 Aug 13.
    • Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.
    • Lattimore V, Currie M, Lintott C, Sullivan J, Robinson BA, Walker LC.
    • N Z Med J. 2015 Aug 7;128(1419):56-61.
    • Curating the Way to Better Determinants of Genetic Risk.
    • Phimister EG.
    • N Engl J Med. 2015 Jun 4;372(23):2227-2228. Epub 2015 May 27.
    • Editorial / Commentary
    • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.
    • Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.
    • N Engl J Med. 2015 Jun 4;372(23):2243-2257. Epub 2015 May 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Excellent review paper in NEJM

    Comment / Letter

    ClinGen and Genetic Testing.

    • Behind the Scenes of Breast Cancer, Researchers Collect Genetic Clues in BRCA Database.
    • [No author given]
    • GlobeNewswire. 2015 May 7.
    • For $249, Shouldn’t We All Have the Cancer Gene Panel?
    • [No author given]
    • My Gene Counsel. 2015 Apr 28.
    • BRCA Share (formerly UMD-BRCA1 mutations database) Home.
    • [No author given]
    • BRCA Share™ (formerly UMD-BRCA1 mutations database). 2015 Apr 21.
    • BRCA gene datashare will help detect cancer risk.
    • Susan Miller.
    • USA Today. 2015 Apr 21.
    • 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.
    • Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.
    • Massink MP, Kooi IE, van Mil SE, Jordanova ES, Ameziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CH, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AM, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H.
    • Mol Oncol. 2015 Apr;9(4):877-88. doi: 10.1016/j.molonc.2014.12.012. Epub 2015 Jan 13.
    • Gene counsellors expect resurgence of 'Jolie effect'
    • Erika Check Hayden
    • Nature, News. 2015 Mar 26. doi: 10.1038/nature.2015.17184.
    • Has the BRCA Monopoly Been Reborn?
    • Ellen T. Matloff.
    • My Gene Counsel. 2015 Feb 24.
    • Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?
    • Cheon JY, Mozersky J, Cook-Deegan R.
    • Genome Med. 2014 Dec 19;6(12):121. doi: 10.1186/s13073-014-0121-3. eCollection 2014.
    • Unknown significance.
    • Couzin-Frankel J.
    • Science. 2014 Dec 5;346(6214):1167-70. doi: 10.1126/science.346.6214.1167.

    Press: Feature: Peering into my genome (Science)

    • Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
    • Garcia C, Lyon L, Littell RD, Powell CB.
    • Genet Med. 2014 Dec;16(12):896-902. doi: 10.1038/gim.2014.48. Epub 2014 May 22.
    • Genetic testing today.
    • Euhus D.
    • Ann Surg Oncol. 2014 Oct;21(10):3209-15. doi: 10.1245/s10434-014-3906-0. Epub 2014 Jul 17.
    • Cancer risk assessment using genetic panel testing: considerations for clinical application.
    • Hiraki S, Rinella ES, Schnabel F, Oratz R, Ostrer H.
    • J Genet Couns. 2014 Aug;23(4):604-17. doi: 10.1007/s10897-014-9695-6. Epub 2014 Mar 7.
    • Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.
    • Robson M.
    • J Clin Oncol. 2014 Jul 1;32(19):1987-9. doi: 10.1200/JCO.2014.56.0474. Epub 2014 May 27.

    Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

    • The Truth about Public Genetic Databases.
    • [No author given]
    • Yale Cancer Genetic Counseling, 2014 Jun 16.
    • Cancer-gene data sharing boosted.
    • Hayden EC.
    • Nature. 2014 Jun 10;510(7504):198. doi: 10.1038/510198a.
    • Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention.
    • Couch FJ, Nathanson KL, Offit K.
    • Science. 2014 Mar 28;343(6178):1466-70. doi: 10.1126/science.1251827.
    • Editorial / Commentary
    • Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.
    • Rainville IR, Rana HQ.
    • Curr Oncol Rep. 2014 Mar;16(3):371. doi: 10.1007/s11912-013-0371-z.
    • Case report, Review

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request multigene panels

    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.
    • Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii69-viii74. doi: 10.1093/annonc/mdt312.
    • Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.
    • Culver J, Brinkerhoff C, Clague J, Yang K, Singh K, Sand S, Weitzel J.
    • Clin Genet. 2013 Nov;84(5):464-472. doi: 10.1111/cge.12097. Epub 2013 Feb 20.
    • Researchers Spar Over Tests for Breast Cancer Risks.
    • Jocelyn Kaiser.
    • ScienceInsider. 2013 Oct 24.
    • Free the data: the end of genetic data as trade secrets.
    • Nguyen S, Terry SF.
    • Genet Test Mol Biomarkers. 2013 Aug;17(8):579-80. doi: 10.1089/gtmb.2013.1547.
    • Heritable genetic changes in the open.
    • [No authors listed]
    • Nat Methods. 2013 Aug;10(8):683.
    • Genomic Medicine Just Hit the Accelerator.
    • Eric J. Topol.
    • Medscape Internal Medicine. 2013 Jun 17.
    • Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.
    • So D, Joly Y.
    • Curr Pharmacogenomics Person Med. 2013 Jun;11(2):98-109.
    • The next controversy in genetic testing: clinical data as trade secrets?
    • Cook-Deegan R, Conley JM, Evans JP, Vorhaus D.
    • Eur J Hum Genet. 2013 Jun;21(6):585-8. doi: 10.1038/ejhg.2012.217. Epub 2012 Nov 14.

    News

    Genetics testing firm is accused of “hiding vital breast cancer data”

    News blog: Policy paper: Myriad turns cancer genetic data into trade secrets (Nature.com)

    • A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer.
    • Pal T, Cragun D, Lewis C, Doty A, Rodriguez M, Radford C, Thompson Z, Kim J, Vadaparampil ST.
    • Genet Test Mol Biomarkers. 2013 May;17(5):367-75. doi: 10.1089/gtmb.2012.0381. Epub 2013 Feb 28.
    • BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management.
    • Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ.
    • Oncologist. [2013 May;]18(5):518-24. doi: 10.1634/theoncologist.2012-0452. Epub 2013 Apr 24.
    • Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment.
    • Vos J, Menko FH, Oosterwijk JC, van Asperen CJ, Stiggelbout AM, Tibben A.
    • Psychooncology. 2013 May;22(5):1167-76. doi: 10.1002/pon.3125. Epub 2012 Jul 9.
    • DNA Project Aims to Make Public a Company’s Data on Cancer Genes.
    • Gina Kolata.
    • NY Times. 2013 Apr 12.
    • Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer.
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    Press: Most parents who get tested for breast cancer genes share results with their children. (EurekAlert!)

    Press: Most Parents Disclose Cancer Gene Results to Children. (Medscape)

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