HBOC Panel Testing ~ Genetic Testing
~ Genetics of Breast & Ovarian Cancer

Any aspect of using next generation testing in detection of mutations responsible for HBOC; methods beyond that of sequencing coding regions of individual genes

List was last updated on Dec 9, 2019 @ 9:07 am.


    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
    • Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M.
    • Ann Lab Med. 2020 Mar;40(2):148-154. doi: 10.3343/alm.2020.40.2.148.

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

    • 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]
    • Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
    • Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J.
    • Clin Biochem. 2019 Nov 28. pii: S0009-9120(19)30856-2. doi: 10.1016/j.clinbiochem.2019.11.014. [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.
    • Update: Genetic causes of hereditary pancreatic cancer: BRCA and beyond
    • [No author given]
    • FORCE. XRAYS. 2019 Nov 26.
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
    • Ross LF, Clayton EW.
    • Pediatrics. 2019 Nov 12. pii: e20191031. doi: 10.1542/peds.2019-1031. [Epub ahead of print]

    Press: Genome Sequencing in Newborns Raises Ethical Issues (NY Times/Reuters)

    • NSGC Panel Divided on Whether Newly Diagnosed Breast Cancer Patients Should Undergo Panel Testing.
    • [No author given]
    • GenomeWeb. 2019 Nov 7.
    • Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
    • Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K.
    • Cancer. 2019 Nov 4. doi: 10.1002/cncr.32572. [Epub ahead of print]
    • Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling.
    • Grady MC, Kolla KA, Peshkin BN.
    • Curr Genet Med Rep. 2019 Nov 4. doi: 10.1007/s40142-019-00173-8. [Epub ahead of print]
    • Review
    • Who should access Germline Genome Sequencing? A mixed methods study of patient views.
    • Best MC, Butow P, Jacobs C, Savard J, Biesecker B, Ballinger ML, Bartley N, Davies G, Napier CE, Smit AK, Thomas DM, Newson AJ; And members of the PiGeOn Project.
    • Clin Genet. 2019 Nov 1. doi: 10.1111/cge.13664. [Epub ahead of print]
    • Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer Diagnostics.
    • Muscarella LA, Fabrizio FP, De Bonis M, Mancini MT, Balsamo T, Graziano P, Centra F, Sparaneo A, Trombetta D, Bonfitto A, Scagliusi V, Larizza P, Capoluongo ED, Fazio VM.
    • Cancers (Basel). 2019 Oct 30;11(11). pii: E1691. doi: 10.3390/cancers11111691.
    • Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
    • Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS.
    • Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.
    • Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.
    • Yamamoto Y, Kanai M, Kou T, Sugiyama A, Nakamura E, Miyake H, Yamada T, Nishigaki M, Kondo T, Murakami H, Torishima M, Matsumoto S, Kosugi S, Muto M.
    • J Hum Genet. 2019 Oct 18. doi: 10.1038/s10038-019-0681-6. [Epub ahead of print]
    • Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
    • Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL.
    • J Pediatr. 2019 Oct 17. pii: S0022-3476(19)31082-0. doi: 10.1016/j.jpeds.2019.08.024. [Epub ahead of print]
    • 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
    • A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.
    • Sun L, Brentnall A, Patel S, Buist DSM, Bowles EJA, Evans DGR, Eccles D, Hopper J, Li S, Southey M, Duffy S, Cuzick J, Dos Santos Silva I, Miners A, Sadique Z, Yang L, Legood R, Manchanda R.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.3323. [Epub ahead of print]

    CME Audio Interview: Cost-effectiveness of Multigene Testing for All Patients With Breast Cancer. (JN Learning : JAMA Oncology)

    Press: Study Finds Breast, Ovarian Cancer Gene Tests Cost-Effective for Unselected Breast Cancer Patients. (GenomeWeb)

    • Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility-Pandora's Box Is Opening Wider.
    • Robson M, Domchek S.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.4004. [Epub ahead of print]
    • Commentary
    • Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.
    • Lee YJ, Kim D, Kim HS, Na K, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT.
    • Yonsei Med J. 2019 Oct;60(10):914-923. doi: 10.3349/ymj.2019.60.10.914.
    • Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.
    • Sawyer L, Creswick H, Lewandowski R, Quillin J.
    • J Genet Couns. 2019 Sep 25. doi: 10.1002/jgc4.1173. [Epub ahead of print]
    • Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer.
    • Sailer V, Eng KW, Zhang T, Bareja R, Pisapia DJ, Sigaras A, Bhinder B, Romanel A, Wilkes D, Sticca E, Cyrta J, Rao R, Sahota S, Pauli C, Beg S, Motanagh S, Kossai M, Fontunge J, Puca L, Rennert H, Zhaoying Xiang J, Greco N, Kim R, MacDonald TY, McNary T, Blattner-Johnson M, Schiffman MH, Faltas BM, Greenfield JP, Rickman D, Andreopoulou E, Holcomb K, Vahdat LT, Scherr DS, van Besien K, Barbieri CE, Robinson BD, Fine HA, Ocean AJ, Molina A, Shah MA, Nanus DM, Pan Q, Demichelis F, Tagawa ST, Song W, Mosquera JM, Sboner A, Rubin MA, Elemento O, Beltran H.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.19.00047. Epub 2019 Sep 20.
    • Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
    • Batalini F, Peacock EG, Stobie L, Robertson A, Garber J, Weitzel JN, Tung NM.
    • Breast Cancer Res. 2019 Sep 18;21(1):107. doi: 10.1186/s13058-019-1193-1.
    • Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
    • Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato AG, Palli D, Caligo MA.
    • Breast Cancer Res Treat. 2019 Sep 11. doi: 10.1007/s10549-019-05429-z. [Epub ahead of print]
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • 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.
    • A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China.
    • Li W, Li L, Wu M.
    • Hered Cancer Clin Pract. 2019 Sep 10;17:26. doi: 10.1186/s13053-019-0126-4. eCollection 2019.
    • Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.
    • Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.
    • Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.
    • [Guideline on next-generation sequencing-based BRCA1/2 testing (2019)].
    • Working Group of Guideline on Next-Generation Sequencing-Based BRCA1/2 Testing (2019).
    • Zhonghua Bing Li Xue Za Zhi. 2019 Sep 8;48(9):670-677. doi: 10.3760/cma.j.issn.0529-5807.2019.09.002.
    • Guidelines, [Article in Chinese]
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • 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
    • Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
    • Stuttgen K, Croessmann S, Fetting J, Stearns V, Nunes R, Connolly RM, Park BH.
    • JAMA Oncol. 2019 Aug 29. doi: 10.1001/jamaoncol.2019.3116. [Epub ahead of print]
    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

    • A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
    • Millan Catalan O, Campos-Parra AD, Vázquez-Romo R, Cantú de León D, Jacobo-Herrera N, Morales-González F, López-Camarillo C, Rodríguez-Dorantes M, López-Urrutia E, Pérez-Plasencia C.
    • Cancers (Basel). 2019 Aug 26;11(9). pii: E1246. doi: 10.3390/cancers11091246.
    • Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
    • Cerretini R, Mercado G, Morganstein J, Schiaffi J, Reynoso M, Montoya D, Valdéz R, Narod SA, Akbari MR.
    • Breast Cancer Res Treat. 2019 Aug 24. doi: 10.1007/s10549-019-05411-9. [Epub ahead of print]
    • Universal Genetic Testing for All Breast Cancer Patients.
    • Copur MS.
    • Oncology (Williston Park). 2019 Aug 23;33(8). pii: 683731.
    • Germline mutation in DNA-repair genes is associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan Z, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Cancer Sci. 2019 Aug 20. doi: 10.1111/cas.14175. [Epub ahead of print]
    • Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
    • Kraemer D, Azzarello-Burri S, Steindl K, Boonsawat P, Zweier M, Dedes KJ, Joset P, Fink D, Rauch A.
    • Swiss Med Wkly. 2019 Aug 18;149:w20092. doi: 10.4414/smw.2019.20092. eCollection 2019 Aug 12.
    • BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients.
    • Lee A, Kang J, Lee H, Lee YS, Choi YJ, Lee KH, Nistala GJ, Scafe CR, Choi J, Yoo J, Han M D E, Kim Y, Kim M.
    • Pathol Res Pract. 2019 Aug 16:152595. doi: 10.1016/j.prp.2019.152595. [Epub ahead of print]
    • A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
    • Bishop MR, Huskey ALW, Hetzel J, Merner ND.
    • PLoS One. 2019 Aug 15;14(8):e0220929. doi: 10.1371/journal.pone.0220929. eCollection 2019.
    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
    • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
    • Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]
    • BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
    • Ko JM, Ning L, Zhao XK, Chai AW, Lei LC, Choi SSA, Tao L, Law S, Kwong A, Lee NP, Chan KT, Lo A, Song X, Chen PN, Chang YL, Wang LD, Lung ML.
    • Int J Cancer. 2019 Aug 9. doi: 10.1002/ijc.32619. [Epub ahead of print]
    • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
    • Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.
    • BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.
    • Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants.
    • Rasnic R, Brandes N, Zuk O, Linial M.
    • BMC Cancer. 2019 Aug 7;19(1):783. doi: 10.1186/s12885-019-5994-5.
    • Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders.
    • Ready K, Johansen Taber KA, Bonhomme N, Lichtenfeld JL.
    • Genet Med. 2019 Aug;21(8):1702-1704. doi: 10.1038/s41436-018-0430-9. Epub 2019 Jan 28.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Genomics applied to the treatment of breast cancer.
    • Hamdan D, Nguyen TT, Leboeuf C, Meles S, Janin A, Bousquet G.
    • Oncotarget. 2019 Jul 30;10(46):4786-4801. doi: 10.18632/oncotarget.27102. eCollection 2019 Jul 30.
    • Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, Nasioulas G.
    • BMC Med Genet. 2019 Jul 26;20(1):131. doi: 10.1186/s12881-019-0862-3.
    • From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.
    • Pujol P, De La Motte Rouge T, Penault-Llorca F.
    • Diagnostics (Basel). 2019 Jul 26;9(3). pii: E83. doi: 10.3390/diagnostics9030083.
    • 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]
    • Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
    • Bashford MT, Kohlman W, Everett J, Parrott A, Pollin TI; Practice Guidelines Committee of the National Society of Genetic Counselors and the Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics.
    • Genet Med. 2019 Jul 23. doi: 10.1038/s41436-019-0586-y. [Epub ahead of print]

    Guidelines:

    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan.
    • Hung FH, Wang YA, Jian JW, Peng HP, Hsieh LL, Hung CF, Yang MM, Yang AS.
    • Sci Rep. 2019 Jul 15;9(1):10229. doi: 10.1038/s41598-019-46707-6.
    • 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.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
    • Andrés R, Menao S, Arruebo M, Quílez E, Cardiel MJ.
    • Breast Cancer Res Treat. 2019 Jul 10. doi: 10.1007/s10549-019-05343-4. [Epub ahead of print]
    • Case report
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [Epub ahead of print]
    • The molecular genetic make-up of male breast cancer.
    • Moelans CB, de Ligt J, van der Groep P, Prins P4, Besselink N, Hoogstraat M, Ter Hoeve N, Lacle M, Kornegoor R, van der Pol C, de Leng W, Barbe E, van der Vegt B, Martens J, Bult P, Smits VT, Koudijs M, Nijman I, Voest E, Selenica P, Weigelt B, Reis-Filho J, van der Wall E, Cuppen E, van Diest PJ.
    • Endocr Relat Cancer. 2019 Jul 1. pii: ERC-19-0278. doi: 10.1530/ERC-19-0278. [Epub ahead of print]
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • 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?

    • High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
    • Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
    • NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.
    • Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    • Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.
    • J Natl Cancer Inst. 2019 Jun 19. pii: djz124. doi: 10.1093/jnci/djz124. [Epub ahead of print]
    • A study of mechanistic mapping of novel SNPs to male breast cancer.
    • Kaur RP, Kumar V, Shafi G, Vashistha R, Kulharia M, Munshi A.
    • Med Oncol. 2019 Jun 15;36(8):70. doi: 10.1007/s12032-019-1290-0.
    • A Simple Way to Make Genetic Counseling More Efficient and Accessible.
    • Markman M.
    • Medscape Oncology. 2019 Jun 14.

    Original research:

    Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

    • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
    • Lakeman IMM, Hilbers FS, Rodríguez-Girondo M, Lee A, Vreeswijk MPG, Hollestelle A, Seynaeve C, Meijers-Heijboer H, Oosterwijk JC, Hoogerbrugge N, Olah E, Vasen HFA, van Asperen CJ, Devilee P.
    • J Med Genet. 2019 Jun 11. pii: jmedgenet-2019-106072. doi: 10.1136/jmedgenet-2019-106072. [Epub ahead of print]
    • Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
    • Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY.
    • J Mol Diagn. 2019 Jun 10. pii: S1525-1578(18)30334-9. doi: 10.1016/j.jmoldx.2019.03.001. [Epub ahead of print]

    Press: Multi-Gene Panel Testing Finds Pathogenic Variant Carriers Missed Under Current Testing Guidelines. (GenomeWeb)

    • 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.
    • "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
    • A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
    • Bhai P, Saxena R, Kulshrestha S, Verma IC.
    • Cancer Genet. 2019 Jun;235-236:13-17. doi: 10.1016/j.cancergen.2019.05.003. Epub 2019 May 31.
    • Case report
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
    • Mol Genet Genomic Med. 2019 May 26:e771. doi: 10.1002/mgg3.771. [Epub ahead of print]
    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
    • Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2019 May 21. doi: 10.1002/ijc.32424. [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.

    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
    • Tian W, Bi R, Ren Y, He H, Shi S, Shan B, Yang W, Wang Q, Wang H.
    • Int J Cancer. 2019 May 4. doi: 10.1002/ijc.32389. [Epub ahead of print]
    • Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes.
    • Wong W, Lowery MA, Berger MF, Kemel Y, Taylor B, Zehir A, Srinivasan P, Bandlamudi C, Chou J, Capanu M, Varghese A, Yu KH, Iacobuzio-Donahue CA, Shia J, Klimstra DS, Jarnagin WR, Stadler ZK, O'Reilly EM.
    • Cancer. 2019 May 1;125(9):1441-1448. doi: 10.1002/cncr.31951. Epub 2019 Jan 8.
    • Whole genome sequencing of breast cancer.
    • Rossing M, Sørensen CS, Ejlertsen B, Nielsen FC.
    • APMIS. 2019 May;127(5):303-315. doi: 10.1111/apm.12920. Epub 2019 Jan 28.
    • 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
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
    • Artin MG, Stiles D, Kiryluk K, Chung WK.
    • Ann Intern Med. 2019 Apr 30. doi: 10.7326/M18-2356. [Epub ahead of print]
    • Case report
    • 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
    • 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 Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
    • Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS, McKay RR, Morgans AK, Patnaik A, Petrylak DP, Rettig MB, Ryan C, Taplin ME, Whang YE, Vinson J, Cheng HH, Giri VN; PCCTC Germline Genetics Working Group.
    • Clin Genitourin Cancer. 2019 Apr 18. pii: S1558-7673(19)30139-9. doi: 10.1016/j.clgc.2019.04.013. [Epub ahead of print]
    • Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'.
    • Miller KD
    • Medscape. Medscape Oncology. 2019 Apr 18.

    Original research:

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

    Original research:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    • Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
    • Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing.
    • Underhill-Blazey M, Stopfer J, Chittenden A, Nayak MM, Lansang K, Lederman R, Garber J, Gundersen DA.
    • Patient Educ Couns. 2019 Apr 13. pii: S0738-3991(19)30138-7. doi: 10.1016/j.pec.2019.04.014. [Epub ahead of print]
    • Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
    • Bernstein-Molho R, Singer A, Laitman Y, Netzer I, Zalmanoviz S, Friedman E.
    • Breast Cancer Res Treat. 2019 Apr 12. doi: 10.1007/s10549-019-05228-6. [Epub ahead of print]
    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
    • Bochtler T, Endris V, Leichsenring J, Reiling A, Neumann O, Volckmar AL, Kirchner M, Allgäuer M, Schirmacher P, Krämer A, Stenzinger A.
    • Int J Cancer. 2019 Apr 9. doi: 10.1002/ijc.32316. [Epub ahead of print]
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
    • Gross AM, Turner J, Kirkorian AY, Okoye GA, Luca DC, Bornhorst M, Jacobs SS, Williams KM, Schore RJ.
    • J Pediatr Hematol Oncol. 2019 Apr 8. doi: 10.1097/MPH.0000000000001481. [Epub ahead of print]
    • Case report
    • 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.
    • Prevalence of germline variants in inflammatory breast cancer.
    • Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA.
    • Cancer. 2019 Apr 1. doi: 10.1002/cncr.32062. [Epub ahead of print]
    • Clinical implications of germline mutations in breast cancer genes: RECQL.
    • Bowden AR, Tischkowitz M.
    • Breast Cancer Res Treat. 2019 Apr;174(3):553-560. doi: 10.1007/s10549-018-05096-6. Epub 2019 Jan 4.
    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.
    • Letter, Case report
    • Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.
    • Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, Espenschied C, Jasperson K.
    • Fam Cancer. 2019 Apr;18(2):197-201. doi: 10.1007/s10689-018-00114-4.
    • Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
    • Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, Lee JEA, Lewis A, Morgan JA, Limb S, Young MA, James PA, Trainer AH, Campbell IG.
    • Genet Med. 2019 Apr;21(4):913-922. doi: 10.1038/s41436-018-0277-0. Epub 2018 Sep 26.
    • Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.
    • McCuaig JM, Tone AA, Maganti M, Romagnuolo T, Ricker N, Shuldiner J, Rodin G, Stockley T, Kim RH, Bernardini MQ.
    • Gynecol Oncol. 2019 Apr;153(1):108-115. doi: 10.1016/j.ygyno.2018.12.027. Epub 2019 Jan 10.

    Commentary: A Simple Way to Make Genetic Counseling More Efficient and Accessible. (Medscape Oncology)

    • 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.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [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.)

    • Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
    • Pan ZW, Wang XJ, Chen T, Ding XW, Jiang X, Gao Y, Mo WJ, Huang Y, Lou CJ, Cao WM.
    • Front Oncol. 2019 Mar 22;9:169. doi: 10.3389/fonc.2019.00169. eCollection 2019.
    • 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.

    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
    • Frey MK, Kopparam RV, Ni Zhou Z, Fields JC, Buskwofie A, Carlson AD, Caputo T, Holcomb K, Chapman-Davis E.
    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: 'a somewhat different way'.
    • Biller LH, Yurgelun MB.
    • Per Med. 2019 Mar;16(2):83-86. doi: 10.2217/pme-2018-0109. Epub 2019 Feb 11.
    • Editorial
    • 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)

    • PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.
    • J Clin Oncol. 2019 Feb 20;37(6):490-503. doi: 10.1200/JCO.18.00358. Epub 2019 Jan 9.
    • Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
    • Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P.
    • Genet Med. 2019 Feb 18. doi: 10.1038/s41436-019-0457-6. [Epub ahead of print]
    • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
    • Leongamornlert DA, Saunders EJ, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Benafif S, Brook MN, Donovan JL, Hamdy FC, Neal DE, Muir K, Govindasami K, Conti DV, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2019 Feb 15. pii: S0302-2838(19)30096-X. doi: 10.1016/j.eururo.2019.01.050. [Epub ahead of print]

    Press: Numerous DNA-Repair Genes Associated With Prostate-Cancer Risk. (Medscape Oncology)

    • Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: 'a somewhat different way'.
    • Biller LH, Yurgelun MB.
    • Per Med. 2019 Feb 11. doi: 10.2217/pme-2018-0109. [Epub ahead of print]
    • 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 Cost-Effectiveness of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer in Norway.
    • Asphaug L, Melberg HO.
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    • Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.
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    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
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    • Letter, Comment

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

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    • Letter, Comment

    Original Research:

    Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

    Letter, reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer—Reply

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    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)

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    Research news: Can population-based DNA sequencing identify those at risk for hereditary cancers? (FORCE. XRAYS.)

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    Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.

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    • J Natl Cancer Inst. 2018 Sep 1;110(9):985-993. doi: 10.1093/jnci/djy015.
    • Surgery in ovarian cancer - Brazilian Society of Surgical Oncology consensus.
    • Tsunoda AT, Ribeiro R, Reis RJ, da Cunha Andrade C, Moretti Marques R, Baiocchi G, Fin F, Zanvettor PH, Falcao D, Batista TP, Azevedo B, Guitmann G, Pessini SA, Nunes JS, Campbell LM, Linhares JC, Carneiro V, Coimbra F.
    • BJOG. 2018 Sep;125(10):1243-1252. doi: 10.1111/1471-0528.15328. Epub 2018 Jul 18.
    • Review
    • A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations.
    • Braun D, Yang J, Griffin M, Parmigiani G, Hughes KS.
    • J Genet Couns. 2018 Sep;27(5):1187-1199. doi: 10.1007/s10897-018-0238-4. Epub 2018 Mar 2.
    • How Should Genetic Counseling for Ovarian Cancer Be Implemented in a Middle-Income Country? An Insight Based on the Brazilian Scenario.
    • Koike Folgueira MAA, Maistro S, Teixeira N, Mourits MJE, Chammas R, Hendrika de Bock G.
    • J Glob Oncol. 2018 Sep;4:1-3. doi: 10.1200/JGO.17.00230.
    • Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
    • de Jonge MM, Ruano D, van Eijk R, van der Stoep N, Nielsen M, Wijnen JT, Ter Haar NT, Baalbergen A, Bos MEMM, Kagie MJ, Vreeswijk MPG, Gaarenstroom KN, Kroep JR, Smit VTHBM, Bosse T, van Wezel T, van Asperen CJ.
    • J Mol Diagn. 2018 Sep;20(5):600-611. doi: 10.1016/j.jmoldx.2018.05.005. Epub 2018 Jun 21.
    • 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.
    • Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
    • Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.
    • Genetic testing for hereditary prostate cancer: Current status and limitations.
    • Zhen JT, Syed J, Nguyen KA, Leapman MS, Agarwal N, Brierley K, Llor X, Hofstatter E, Shuch B.
    • Cancer. 2018 Aug 1;124(15):3105-3117. doi: 10.1002/cncr.31316. Epub 2018 Apr 18.
    • Review
    • Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.
    • Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I, Li Y, Hawley ST, Morrow M, Jagsi R, Katz SJ.
    • JAMA Oncol. 2018 Aug 1;4(8):1066-1072. doi: 10.1001/jamaoncol.2018.0644.

    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment.
    • Wilkins A, Chauhan R, Rust A, Pearson A, Daley F, Manodoro F, Fenwick K, Bliss J, Yarnold J, Somaiah N.
    • Breast Cancer Res Treat. 2018 Aug;170(3):573-581. doi: 10.1007/s10549-018-4798-7. Epub 2018 Feb 22.
    • Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
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    • Breast Cancer Genetics and Indications for Prophylactic Mastectomy.
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    • Review
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    • Sci Rep. 2018 Jul 27;8(1):11336. doi: 10.1038/s41598-018-29471-x.
    • Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
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    • JCO Precis Oncol. 2018 Jul 25;2018. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.
    • BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
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    • Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.
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    • Clin Case Rep. 2018 Jul 17;6(9):1751-1755. doi: 10.1002/ccr3.1625. eCollection 2018 Sep.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
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    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian
    • Daly MB, Pilarski R, Berry M, Buys SS, Friedman S, Garber JE, Hutton ML, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Madlensky L, Mac JS, Merajver SD, Offit K, Pal T, Peterson HJ, Reiser G, Shannon KM, Thaker P, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Darlow S.
    • NCCN.org. 2018 Jul 11. Version 1.2019.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
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    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.

    • Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.
    • Manchanda R, Patel S, Gordeev VS, Antoniou AC, Smith S, Lee A, Hopper JL, MacInnis RJ, Turnbull C, Ramus SJ, Gayther SA, Pharoah PDP, Menon U, Jacobs I, Legood R.
    • J Natl Cancer Inst. 2018 Jul 1;110(7):714-725. doi: 10.1093/jnci/djx265.

    Editorial:

    Population Testing for High Penetrance Genes: Are We There Yet?

    Commentary:

    Population based germline testing for primary cancer prevention.

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Next generation sequencing is informing phenotype: a TP53 example.

    • Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
    • Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6.
    • 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.

    • 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.
    • Li Y, Devlin JJ.
    • Value Health. 2018 Jul;21(7):893-894. doi: 10.1016/j.jval.2018.02.010. Epub 2018 Apr 5.
    • Letter

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

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

    • 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.

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
    • Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV.
    • BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5.
    • Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
    • Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.
    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Editorial:

    Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.

    Press: Genetic Testing in Relatives of Pancreatic Cancer Patients? (Medscape Oncology)

    Press: Six Germline Mutations Uncovered of Increased Pancreatic Cancer Risk. (Clinical Omics)

    • Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
    • Riahi A, Radmanesh H, Schürmann P, Bogdanova N, Geffers R, Meddeb R, Kharrat M, Dörk T.
    • Int J Cancer. 2018 Jun 15;142(12):2512-2517. doi: 10.1002/ijc.31273. Epub 2018 Feb 5.
    • 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.
    • [Chinese consensus on next generation sequencing-based BRCA testing].
    • Working group of Chinese consensus on next generation sequencing-based BRCA testing.
    • Zhonghua Bing Li Xue Za Zhi. 2018 Jun 8;47(6):401-406. doi: 10.3760/cma.j.issn.0529-5807.2018.06.003.
    • [Article in Chinese]
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    • High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
    • Maksimenko J, Irmejs A, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J.
    • Hered Cancer Clin Pract. 2018 Jun 5;16:12. doi: 10.1186/s13053-018-0094-0. eCollection 2018.
    • Mutations in Known and Novel cancer Susceptibility Genes in Young Patients with Pancreatic Cancer.
    • Alimirzaie S, Mohamadkhani A, Masoudi S, Sellars E, Boffetta P, Malekzadeh R, Akbari MR, Pourshams A.
    • Arch Iran Med. 2018 Jun 1;21(6):228-233.
    • 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.
    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
    • Frost AS, Toaff M, Biagi T, Stark E, McHenry A, Kaltman R.
    • Obstet Gynecol. 2018 Jun;131(6):1103-1110. doi: 10.1097/AOG.0000000000002531.
    • Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.
    • Reiner AS, Sisti J, John EM, Lynch CF, Brooks JD, Mellemkjær L, Boice JD, Knight JA, Concannon P, Capanu M, Tischkowitz M, Robson M, Liang X, Woods M, Conti DV, Duggan D, Shore R, Stram DO, Thomas DC, Malone KE, Bernstein L; WECARE Study Collaborative Group, Bernstein JL.
    • J Clin Oncol. 2018 May 20;36(15):1513-1520. doi: 10.1200/JCO.2017.77.3424. Epub 2018 Apr 5.
    • Genetics of breast cancer in African populations: a literature review.
    • Abbad A, Baba H, Dehbi H, Elmessaoudi-Idrissi M, Elyazghi Z, Abidi O, Radouani F.
    • Glob Health Epidemiol Genom. 2018 May 11;3:e8. doi: 10.1017/gheg.2018.8. eCollection 2018.
    • 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.
    • Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.
    • Fostira F, Saloustros E, Apostolou P, Vagena A, Kalfakakou D, Mauri D, Tryfonopoulos D, Georgoulias V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • Breast Cancer Res Treat. 2018 May;169(1):105-113. doi: 10.1007/s10549-018-4661-x. Epub 2018 Jan 15.
    • 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.
    • Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
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    • Geburtshilfe Frauenheilkd. 2018 May;78(5):481-492. doi: 10.1055/a-0603-4350. Epub 2018 Jun 4.
    • Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
    • Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF.
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    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

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

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    • Conference abstract
    • Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes.
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    PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

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    • Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
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    • J Clin Oncol. 2018 Feb 1;36(4):414-424. doi: 10.1200/JCO.2017.74.1173. Epub 2017 Dec 13.
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    • Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.
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    • Gene aberration profile of tumors of adolescent and young adult females.
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    • Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
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    • Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
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    • Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.
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    • Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.
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    • Mutation Screening of 10 Cancer Susceptibility Genes in Unselected Breast Cancer Patients.
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    • The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer.
    • Vasen HFA.
    • Fam Cancer. 2018 Jan;17(1):1-3. doi: 10.1007/s10689-017-0066-y.

    Development of a high risk pancreatic screening clinic using 3.0 T MRI.

    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
    • Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR.
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    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
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    • A single visit multidisciplinary model for managing patients with mutations in moderate and high-risk genes in a community practice setting.
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    • Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
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    • Genet Med. 2018 Jan;20(1):119-127. doi: 10.1038/gim.2017.85. Epub 2017 Jul 20.
    • Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer.
    • Szender JB, Kaur J, Clayback K, Hutton ML, Mikkelson J, Odunsi K, Dresbold C.
    • Int J Gynecol Cancer. 2018 Jan;28(1):26-33. doi: 10.1097/IGC.0000000000001122.
    • Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families.
    • Vicuña B, Delaney HD, Flores KG, Ballinger L, Royce M, Dayao Z, Pal T, Kinney AY.
    • J Community Genet. 2018 Jan;9(1):81-92. doi: 10.1007/s12687-017-0322-8. Epub 2017 Oct 2.
    • Multi-gene Panel Testing in Breast Cancer Management.
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    • Review
    • 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.
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    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
    • Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.
    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Audio Interview: Breast Cancer Due to Non–BRCA1 and Non–BRCA2 Mutations in Ashkenazi Jewish Women. (The JAMA Network)

    Letter:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    Research review, Commentary: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer? (FORCE. XRAYS. 2018 Jun 7.)

    • The Multifaceted Experience of Multigene Panel Testing for Breast Cancer.
    • Daly M, Azvolinsky A.
    • OncoTherapy Network. 2017 Dec 1.

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    • Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
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    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Multigene (Panel) Testing.
    • PDQ Cancer Genetics Editorial Board.
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    • Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.
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    • Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001925. doi: 10.1101/mcs.a001925. Print 2017 Nov.
    • Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient.
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    • Breast Cancer Res Treat. 2017 Nov;166(1):315-319. doi: 10.1007/s10549-017-4393-3. Epub 2017 Jul 12.
    • Case report
    • Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: a proof of principle study.
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    • Genes Chromosomes Cancer. 2017 Nov;56(11):788-799. doi: 10.1002/gcc.22482. Epub 2017 Aug 16.
    • Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
    • Lilyquist J, LaDuca H, Polley E, Davis BT, Shimelis H, Hu C, Hart SN, Dolinsky JS, Couch FJ, Goldgar DE.
    • Gynecol Oncol. 2017 Nov;147(2):375-380. doi: 10.1016/j.ygyno.2017.08.030. Epub 2017 Sep 7.
    • Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.
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    • Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
    • Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M, Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R.
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    • Cancer Status Bests Family History for BRCA Testing.
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    • Clinical implications of germline mutations in breast cancer: TP53.
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    • Cancer. 2017 Oct 15;123(20):3925-3932. doi: 10.1002/cncr.30817. Epub 2017 Jun 28.
    • PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.
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    • JCO Precis Oncol. 2017 Oct 9;2017. doi: 10.1200/PO.17.00108. Epub 2017 Oct 9.

    Letter:

    With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.

    • Expanding the spectrum of germline variants in cancer.
    • Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Al-Badawi IA, Al-Sanea N, Ashari LH, Abduljabbar A, Alhomoud S, Al-Sobhi SS, Tulbah A, Ajarim D, Alzoman K, Aljuboury M, Yousef HB, Al-Dawish M, Al-Dayel F, Alkuraya FS, Al-Kuraya KS.
    • Hum Genet. 2017 Oct 3. doi: 10.1007/s00439-017-1845-0. [Epub ahead of print]
    • Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes.
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    • Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.
    • Preoperative Panel Testing for Hereditary Cancer Syndromes Does Not Significantly Impact Time to Surgery for Newly Diagnosed Breast Cancer Patients Compared with BRCA1/2 Testing.
    • Murphy AE, Hussain L, Ho C, Dunki-Jacobs E, Lee D, Tameron A, Huelsman K, Rice C, Wexelman BA.
    • Ann Surg Oncol. 2017 Oct;24(10):3055-3059. doi: 10.1245/s10434-017-5957-5. Epub 2017 Aug 1.
    • Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.
    • O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S, Ouyang K.
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    • Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
    • Qian Y, Mancini-DiNardo D, Judkins T, Cox HC, Brown K, Elias M, Singh N, Daniels C, Holladay J, Coffee B, Bowles KR, Roa BB.
    • Cancer Genet. 2017 Oct;216-217:159-169. doi: 10.1016/j.cancergen.2017.08.002. Epub 2017 Aug 24.
    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
    • Gupta S, Greenberg S, Grimmett J, Gaston D, Agarwal N, Lowrance W, Schiffman J, Kohlmann W.
    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • Impact of germline and somatic BRCA1/2 mutations: Tumor spectrum and detection platforms.
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    • Gene Ther. 2017 Oct;24(10):601-609. doi: 10.1038/gt.2017.73. Epub 2017 Aug 3.
    • Review
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
    • Li G, Guo X, Tang L, Chen M, Luo X, Peng L, Xu X, Wang S, Xiao Z, Yi W, Dai L, Wang J.
    • J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024. doi: 10.1007/s00432-017-2465-8. Epub 2017 Jun 29.
    • Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.
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    • 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.

    • Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
    • Pal T, Brzosowicz J, Valladares A, Wiesner GL, Laronga C.
    • South Med J. 2017 Oct;110(10):643-648. doi: 10.14423/SMJ.0000000000000711.
    • The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
    • Sung PL, Wen KC, Chen YJ, Chao TC, Tsai YF, Tseng LM, Qiu JT, Chao KC, Wu HH, Chuang CM, Wang PH, Huang CF.
    • PLoS One. 2017 Sep 29;12(9):e0185615. doi: 10.1371/journal.pone.0185615. eCollection 2017.
    • Contralateral Prophylactic Mastectomy.
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    • N Engl J Med. 2017 Sep 28;377(13):1288-1291. doi: 10.1056/NEJMclde1708293.
    • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
    • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K.
    • JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    Editorial:

    The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.

    Press: Study Shows More Cancer Mutations Detected by Universal Sequencing. (Clinical Omics)

    Press: Expanding Germline Analyses to Prevent and Treat Cancers. (Medscape)

    • Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
    • Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.
    • JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.

    Editorial:

    Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

    Letter, Comment:

    Ascertainment Bias and Estimating Penetrance.

    Interview, Audio: The Multifaceted Experience of Multigene Panel Testing for Breast Cancer. (OncoTherapy Network)

    • Current Challenges Associated With Next-Generation Sequencing of Breast Cancer.
    • Sorscher S.
    • JAMA Oncol. 2017 Sep 1;3(9):1283-1284. doi: 10.1001/jamaoncol.2017.0659.
    • Letter, Comment

    Review:

    The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.

    Letter, Reply:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer-Reply.

    • Application of Panel-Based Tests for Inherited Risk of Cancer.
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    • Review
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    • Br J Cancer. 2017 Aug 22;117(5):710-716. doi: 10.1038/bjc.2017.223. Epub 2017 Jul 27.
    • Implementation and utilization of the molecular tumor board to guide precision medicine.
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    • Oncotarget. 2017 Jun 14;8(34):57845-57854. doi: 10.18632/oncotarget.18471. eCollection 2017 Aug 22.
    • [The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer].
    • He JX, Jiang YF.
    • Zhonghua Yu Fang Yi Xue Za Zhi. 2017 Aug 6;51(8):772-776. doi: 10.3760/cma.j.issn.0253-9624.2017.08.022.
    • Review; Article in Chinese; Abstract in English, Chinese
    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
    • Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.
    • J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.
    • Frequency of Germline BRCA1/2 Mutations in Unselected Patients With Colorectal Cancer.
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    • J Clin Oncol. 2017 Aug 1;35(22):2588. doi: 10.1200/JCO.2017.72.7222. Epub 2017 May 16.

    Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

    Letter, Reply:

    Reply to M.S. Daniels et al.

    • 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.
    • Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
    • Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
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    • Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
    • Tedaldi G, Tebaldi M, Zampiga V, Danesi R, Arcangeli V, Ravegnani M, Cangini I, Pirini F, Petracci E, Rocca A, Falcini F, Amadori D, Calistri D.
    • Oncotarget. 2017 Jul 18;8(29):47064-47075. doi: 10.18632/oncotarget.16791.
    • Detection of false positive mutations in BRCA gene by next generation sequencing.
    • Suryavanshi M, Kumar D, Panigrahi MK, Chowdhary M, Mehta A.
    • Fam Cancer. 2017 Jul;16(3):311-317. doi: 10.1007/s10689-016-9955-8.
    • Outcomes of retesting BRCA negative patients using multigene panels.
    • Yadav S, Reeves A, Campian S, Paine A, Zakalik D.
    • Fam Cancer. 2017 Jul;16(3):319-328. doi: 10.1007/s10689-016-9956-7.
    • Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
    • Frey MK, Sandler G, Sobolev R, Kim SH, Chambers R, Bassett RY, Martineau J, Sapra KJ, Boyd L, Curtin JP, Pothuri B, Blank SV.
    • Gynecol Oncol. 2017 Jul;146(1):123-128. doi: 10.1016/j.ygyno.2017.04.009. Epub 2017 May 8.
    • Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making.
    • Abida W, Armenia J, Gopalan A, Brennan R, Walsh M, Barron D, Danila D, Rathkopf D, Morris M, Slovin S, McLaughlin B, Curtis K, Hyman DM, Durack JC, Solomon SB, Arcila ME, Zehir A, Syed A, Gao J, Chakravarty D, Vargas HA, Robson ME, Joseph V, Offit K, Donoghue MTA, Abeshouse AA, Kundra R, Heins ZJ, Penson AV, Harris C, Taylor BS, Ladanyi M, Mandelker D, Zhang L, Reuter VE, Kantoff PW, Solit DB, Berger MF, Sawyers CL, Schultz N, Scher HI.
    • JCO Precis Oncol. 2017 Jul;2017. doi: 10.1200/PO.17.00029. Epub 2017 May 31.
    • Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
    • Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K; BGI Group.
    • J Gynecol Oncol. 2017 Jul;28(4):e39. doi: 10.3802/jgo.2017.28.e39.
    • Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women.
    • Kurian AW, Hughes E, Handorf EA, Gutin A, Allen B, Hartman AR, Hall MJ.
    • JCO Precis Oncol. doi: 10.1200/PO.16.00066. Epub 2017 Jun 27.
    • Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
    • Buzolin AL, Moreira CM, Sacramento PR, Oku AY, Fornari ARDS, Antonio DSM, Quaio CRDAC, Baratela WR, Mitne-Neto M.
    • Hum Genomics. 2017 Jun 26;11(1):14. doi: 10.1186/s40246-017-0110-x.
    • The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
    • Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.
    • NPJ Breast Cancer. 2017 Jun 9;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.
    • Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
    • Stafford JL, Dyson G, Levin NK, Chaudhry S, Rosati R, Kalpage H, Wernette C, Petrucelli N, Simon MS, Tainsky MA.
    • PLoS One. 2017 Jun 7;12(6):e0178450. doi: 10.1371/journal.pone.0178450. eCollection 2017.
    • High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.
    • Laarabi FZ, Ratbi I, Elalaoui SC, Mezzouar L, Doubaj Y, Bouguenouch L, Ouldim K, Benjaafar N, Sefiani A.
    • BMC Res Notes. 2017 Jun 2;10(1):188. doi: 10.1186/s13104-017-2511-2.
    • High-risk patients with breast cancer may not receive genetic testing.
    • Printz C
    • Cancer. 2017 Jun 1;123(11):1887. doi: 10.1002/cncr.30774.

    Letter, Comment:

    Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer.

    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
    • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, Ryan L, Gil E, van 't Veer L.
    • Breast Cancer Res Treat. 2017 Jun;163(2):383-390. doi: 10.1007/s10549-017-4181-0. Epub 2017 Mar 9.
    • Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from BRCA1/2 Negative Families.
    • Flores KG, Steffen LE, McLouth CJ, Vicuña BE, Gammon A, Kohlmann W, Vigil L, Dayao ZR, Royce ME, Kinney AY.
    • J Genet Couns. 2017 Jun;26(3):480-490. doi: 10.1007/s10897-016-0001-7. Epub 2016 Aug 6.
    • 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.
    • A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
    • Melloni GEM, Mazzarella L, Bernard L, Bodini M, Russo A, Luzi L, Pelicci PG, Riva L.
    • Breast Cancer Res. 2017 May 31;19(1):63. doi: 10.1186/s13058-017-0854-1.
    • 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.
    • 5 Big Questions (and Answers) on Inherited Prostate Cancer Testing.
    • Nick Mulcahy
    • Medscape. Coverage from the American Urological Association (AUA) 2017 Annual Meeting. 2017 May 18.
    • A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
    • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, Sharma L, Saam J, Lancaster J, Daly MB.
    • Cancer. 2017 May 15;123(10):1721-1730. doi: 10.1002/cncr.30498. Epub 2017 Jan 13.
    • Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation.
    • Giri VN, Obeid E, Gross L, Bealin L, Hyatt C, Hegarty SE, Montgomery S, Forman A, Bingler R, Kelly WK, Dicker AP, Winheld S, Trabulsi EJ, Chen DYT, Lallas CD, Allen BA, Daly MB, Gomella LG.
    • JCO Precis Oncol. doi: 10.1200/PO.16.00039. Epub 2017 May 4.

    Editorial: Genetic Testing for Prostate Cancer in Clinical Practice. (JCO Precision Oncology)

    • Genomic Testing and Precision Medicine in Cancer Care.
    • West HJ, Miller G.
    • Medscape. News & Perspective. 2017 May 2.
    • Multigene Testing for Hereditary Cancer: When, Why, and How.
    • Offit K.
    • J Natl Compr Canc Netw. 2017 May 1;15(5 Suppl):741-743.
    • Review
    • 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.
    • Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.
    • Sharma Bhai P, Sharma D, Saxena R, Verma IC.
    • Breast Care (Basel). 2017 May;12(2):114-116. doi: 10.1159/000457786. Epub 2017 Mar 21.
    • The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition.
    • Afghahi A, Kurian AW.
    • Curr Treat Options Oncol. 2017 May;18(5):27. doi: 10.1007/s11864-017-0468-y.
    • Review
    • High-risk epithelial ovarian cancer patients for hereditary ovarian cancer.
    • Chirasophon S, Manchana T, Teerapakpinyo C.
    • J Obstet Gynaecol Res. 2017 May;43(5):929-934. doi: 10.1111/jog.13287. Epub 2017 Feb 11.
    • Next Generation Sequencing and Multi-Gene Panel Testing: Implications for the Oncology Nurse.
    • Kelly PA.
    • Semin Oncol Nurs. 2017 May;33(2):208-218. doi: 10.1016/j.soncn.2017.02.007. Epub 2017 Apr 5.
    • Review
    • A novel molecular diagnostics platform for somatic and germline precision oncology.
    • Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J.
    • Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359. doi: 10.1002/mgg3.291. eCollection 2017 Jul.
    • Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.
    • Ricks-Santi L, McDonald JT, Gold B, Dean M, Thompson N, Abbas M, Wilson B, Kanaan Y, Naab TJ, Dunston G.
    • Ethn Dis. 2017 Apr 20;27(2):169-178. doi: 10.18865/ed.27.2.169. eCollection 2017 Spring.
    • Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
    • Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.
    • J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

    Letter, Comments:

    Frequency of Germline BRCA1/2 Mutations in Unselected Patients With Colorectal Cancer.

    Letter, Reply:

    Reply to M.S. Daniels et al.

    • Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing.
    • Rosenthal ET, Evans B, Kidd J, Brown K, Gorringe H, van Orman M, Manley S.
    • J Am Coll Radiol. 2017 Apr;14(4):561-568. doi: 10.1016/j.jacr.2016.10.003. Epub 2016 Dec 20.
    • A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.
    • Li Y, Arellano AR, Bare LA, Bender RA, Strom CM, Devlin JJ.
    • Value Health. 2017 Apr;20(4):547-555. doi: 10.1016/j.jval.2017.01.006. Epub 2017 Feb 23.

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    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.

    • Identification, genetic testing, and management of hereditary melanoma.
    • Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P.
    • Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5.
    • Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.
    • Frey MK, Pothuri B.
    • Gynecol Oncol Res Pract. 2017 Feb 22;4:4. doi: 10.1186/s40661-017-0039-8. eCollection 2017.
    • Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.
    • van der Merwe N, Peeters AV, Pienaar FM, Bezuidenhout J, van Rensburg SJ, Kotze MJ.
    • Int J Mol Sci. 2017 Feb 22;18(2). pii: E467. doi: 10.3390/ijms18020467.
    • Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer .
    • Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ, Jagsi R.
    • JAMA. 2017 Feb 7;317(5):531-534. doi: 10.1001/jama.2016.16918.
    • Letter, Comment

    Viewpoint:

    Multigene Panel Testing in Oncology Practice: How Should We Respond?

    Research news: High-risk patients with breast cancer may not receive genetic testing. (Cancer)

    Press: Shortage of Genetic Counselors in Face of Growing Need. (Medscape Conference News)

    • The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.
    • Niravath P, Cakar B, Ellis M.
    • JAMA Oncol. 2017 Feb 1;3(2):262-268. doi: 10.1001/jamaoncol.2016.2719.
    • Review

    Letter, Comment:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer.

    Letter, Reply:

    Current Challenges Associated With Next-Generation Sequencing of Breast Cancer-Reply.

    • Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.
    • Rizzolo P, Silvestri V, Ottini L.
    • Breast Cancer Res Treat. 2017 Feb;162(1):199-200. doi: 10.1007/s10549-017-4108-9. Epub 2017 Jan 16.
    • Letter
    • Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
    • Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.
    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
    • Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A.
    • Breast Cancer Res Treat. 2017 Feb;161(3):597-604. doi: 10.1007/s10549-016-4058-7. Epub 2016 Dec 2.
    • 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

    • The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
    • Bunnell AE, Garby CA, Pearson EJ, Walker SA, Panos LE, Blum JL.
    • J Genet Couns. 2017 Feb;26(1):105-112. doi: 10.1007/s10897-016-9985-2. Epub 2016 Jun 9.
    • [Clinical significance and distribution of BRCA genes mutation in sporadic high grade serous ovarian cancer].
    • Liu WL, Wang ZZ, Zhao JZ, Hou YY, Wu XX, Li W, Dong B, Tong TT, Guo YJ.
    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jan 25;52(1):26-31. doi: 10.3760/cma.j.issn.0529-567X.2017.01.007.
    • Article in Chinese; English Abstract
    • Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia.
    • Atshemyan S, Chavushyan A, Berberian N, Sahakyan A, Zakharyan R, Arakelyan A.
    • F1000Res. 2017 Jan 10;6:29. doi: 10.12688/f1000research.10434.1. eCollection 2017.
    • The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
    • Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, Faivre L.
    • Oncotarget. 2017 Jan 10;8(2):1957-1971. doi: 10.18632/oncotarget.12699.
    • A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
    • Castellanos E, Gel B, Rosas I, Tornero E, Santín S, Pluvinet R, Velasco J, Sumoy L, Del Valle J, Perucho M, Blanco I, Navarro M, Brunet J, Pineda M, Feliubadaló L, Capellá G, Lázaro C, Serra E.
    • Sci Rep. 2017 Jan 4;7:39348. doi: 10.1038/srep39348.
    • Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
    • Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A.
    • Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23.
    • Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
    • Moran O, Nikitina D, Royer R, Poll A, Metcalfe K, Narod SA, Akbari MR, Kotsopoulos J.
    • Breast Cancer Res Treat. 2017 Jan;161(1):135-142. doi: 10.1007/s10549-016-4038-y. Epub 2016 Oct 31.
    • 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.

    • Molecular analysis of BRCA1 and BRCA2 genes by next generation sequencing and ultrastructural aspects of breast tumor tissue.
    • Mihalcea CE, Moroşanu AM, Murăraşu D, Puiu L, Cinca SA, Voinea SC, Mirancea N.
    • Rom J Morphol Embryol. 2017;58(2):445-455.
    • A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
    • Esposito MV, Nunziato M, Starnone F, Telese A, Calabrese A, D'Aiuto G, Pucci P, D'Aiuto M, Baralle F, D'Argenio V, Salvatore F.
    • Int J Mol Sci. 2016 Dec 21;17(12). pii: E2145. doi: 10.3390/ijms17122145.
    • Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
    • He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM.
    • PLoS One. 2016 Dec 8;11(12):e0167847. doi: 10.1371/journal.pone.0167847. eCollection 2016.
    • 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.
    • Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
    • Graffeo R, Livraghi L, Pagani O, Goldhirsch A, Partridge AH, Garber JE.
    • Breast Cancer Res Treat. 2016 Dec;160(3):393-410. Epub 2016 Oct 12.
    • Review
    • 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.
    • Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
    • Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC.
    • Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Subject: article request

    • 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.

    • Germline mutations in Japanese familial pancreatic cancer patients.
    • Takai E, Yachida S, Shimizu K, Furuse J, Kubo E, Ohmoto A, Suzuki M, Hruban RH, Okusaka T, Morizane C, Furukawa T.
    • Oncotarget. 2016 Nov 8;7(45):74227-74235. doi: 10.18632/oncotarget.12490.
    • Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
    • Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.
    • Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.
    • Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
    • Ring KL, Bruegl AS, Allen BA, Elkin EP, Singh N, Hartman AR, Daniels MS, Broaddus RR.
    • Mod Pathol. 2016 Nov;29(11):1381-1389. doi: 10.1038/modpathol.2016.135. Epub 2016 Jul 22.
    • Prevention and Screening in Hereditary Breast and Ovarian Cancer.
    • Zeichner SB, Stanislaw C, Meisel JL.
    • Oncology (Williston Park). 2016 Oct 15;30(10). pii: 219285.

    Commentary

    Clinical Hereditary Cancer Syndromes and Gene Panel Testing.

    • 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
    • Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.
    • Ng PS, Wen WX, Fadlullah MZ, Yoon SY, Lee SY, Thong MK, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2016 Oct;90(4):315-23. doi: 10.1111/cge.12735. Epub 2016 Feb 3.
    • Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
    • Lhota F, Zemankova P, Kleiblova P, Soukupova J, Vocka M, Stranecky V, Janatova M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z.
    • Clin Genet. 2016 Oct;90(4):324-33. doi: 10.1111/cge.12748. Epub 2016 Mar 4.
    • Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
    • Dobbins SE, Broderick P, Chubb D, Kinnersley B, Sherborne AL, Houlston RS.
    • Fam Cancer. 2016 Oct;15(4):593-9. doi: 10.1007/s10689-016-9914-4.
    • BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.
    • Pilato B, Pinto R, De Summa S, Petriella D, Lacalamita R, Danza K, Virgilio Paradiso A, Tommasi S.
    • Genes Chromosomes Cancer. 2016 Oct;55(10):803-13. doi: 10.1002/gcc.22383. Epub 2016 Jul 4.
    • 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

    • Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
    • Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, Pinheiro M, Peixoto A, Teixeira MR.
    • Breast Cancer Res Treat. 2016 Sep;159(2):245-56. doi: 10.1007/s10549-016-3948-z. Epub 2016 Aug 23.
    • Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
    • Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC.
    • Cancer Genet. 2016 Sep;209(9):403-407. doi: 10.1016/j.cancergen.2016.08.005. Epub 2016 Aug 15.
    • Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.
    • Alemar B, Herzog J, Brinckmann Oliveira Netto C, Artigalás O, Schwartz IV, Matzenbacher Bittar C, Ashton-Prolla P, Weitzel JN.
    • Cancer Genet. 2016 Sep;209(9):417-422. doi: 10.1016/j.cancergen.2016.06.008. Epub 2016 Jun 20.
    • 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.
    • A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
    • Chandler MR, Bilgili EP, Merner ND.
    • Hum Mutat. 2016 Sep;37(9):835-46. doi: 10.1002/humu.23017. Epub 2016 Jun 27.
    • Review
    • Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    • Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JH, Ainsworth P, Waye JS, Sadikovic B.
    • J Mol Diagn. 2016 Sep;18(5):657-67. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.
    • Next-Generation Sequencing: Role in Gynecologic Cancers.
    • Evans T, Matulonis U.
    • J Natl Compr Canc Netw. 2016 Sep;14(9):1165-73.
    • Review
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
    • Oncology Nursing News. 2016 Aug 3.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • Are genetic testing criteria redundant in the light of next generation sequencing technologies?
    • Charlotte Warren-Gash.
    • PHG Foundation. 2016 July 29.

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

    • 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.
    • Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
    • Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.
    • Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.
    • Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
    • Kwong A, Shin VY, Au CH, Law FB, Ho DN, Ip BK, Wong AT, Lau SS, To RM, Choy G, Ford JM, Ma ES, Chan TL.
    • J Mol Diagn. 2016 Jul;18(4):580-94. doi: 10.1016/j.jmoldx.2016.03.005. Epub 2016 May 5.
    • Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
    • Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA.
    • PeerJ. 2016 Jun 28;4:e2162. doi: 10.7717/peerj.2162. eCollection 2016.
    • Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
    • Warren-Gash C, Kroese M, Burton H, Pharoah P.
    • Hered Cancer Clin Pract. 2016 Jun 1;14:12. doi: 10.1186/s13053-016-0052-7. eCollection 2016.

    Press: Are genetic testing criteria redundant in the light of next generation sequencing technologies? (PHG Foundation)

    • Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
    • Mannan AU, Singh J, Lakshmikeshava R, Thota N, Singh S, Sowmya TS, Mishra A, Sinha A, Deshwal S, Soni MR, Chandrasekar A, Ramesh B, Ramamurthy B, Padhi S, Manek P, Ramalingam R, Kapoor S, Ghosh M, Sankaran S, Ghosh A, Veeramachaneni V, Ramamoorthy P, Hariharan R, Subramanian K.
    • J Hum Genet. 2016 Jun;61(6):515-22. doi: 10.1038/jhg.2016.4. Epub 2016 Feb 25.

    Letter

    Estimating risk using multi-gene panel testing; do negative results change the risk?

    • Multigene testing of moderate-risk genes: be mindful of the missense.
    • Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J; Breast Cancer Family Registry, Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV.
    • J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19.
    • Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
    • Mitchell G, Schrader KA.
    • Surg Pathol Clin. 2016 Jun;9(2):301-6. doi: 10.1016/j.path.2016.01.009. Epub 2016 Apr 11.
    • Review
    • Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
    • Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL.
    • Am J Hum Genet. 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024.
    • Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
    • Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE.
    • JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

    Editorial

    Precision Therapy for Pediatric Cancers.

    Press: Lessons From Genetic Testing in Pediatric Cancers. (Medscape Oncology)

    • Panel Testing Is Not a Panacea.
    • Axilbund JE.
    • J Clin Oncol. 2016 May 1;34(13):1433-5. doi: 10.1200/JCO.2015.65.5522. Epub 2016 Mar 14.

    Letter

    Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?

    • Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
    • Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.
    • J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    Subject: Article request

    Press: Caution Urged in Interpreting Breast Cancer Gene Panels at Individual Level (Medscape/Reuters)

    • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

    Letter

    Next-Generation Sequencing of Tumors to Better Estimate the Clinical Significance of Non-BRCA Germline Deleterious Mutations.

    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
    • Lynce F, Isaacs C.
    • Am Soc Clin Oncol Educ Book. 2016 May;(36):e72-e78. doi: 10.1200/EDBK_160391.
    • Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
    • Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.
    • Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.
    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
    • Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators, Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G.
    • J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

    Commentary

    Risky business: getting a grip on BRIP.

    • BRCA 1/2-negative patients who receive counseling after genetic testing have lower anxiety.
    • Printz C.
    • Cancer. 2016 Apr 15;122(8):1149. doi: 10.1002/cncr.30002.
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Gene panel testing for hereditary breast cancer.
    • Winship I, Southey MC.
    • Med J Aust. 2016 Mar 21;204(5):188-90.
    • Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
    • Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, Norton L, Hudis C, Klein RJ, Kauff ND, Robson M, Stadler ZK, Haber DA, Lipkin SM, Friedman E, Foulkes WD, Altshuler D, Vijai J, Offit K.
    • J Clin Oncol. 2016 Mar 10;34(8):e61-7. doi: 10.1200/JCO.2013.50.0272. Epub 2014 Jun 30.
    • Medical implications of technical accuracy in genome sequencing.
    • Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.
    • Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.
    • Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening.
    • Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M.
    • Ann Lab Med. 2016 Mar;36(2):197-201. doi: 10.3343/alm.2016.36.2.197.
    • Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
    • Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.
    • Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.
    • Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
    • Kaphingst KA, Ivanovich J, Biesecker BB, Dresser R, Seo J, Dressler LG, Goodfellow PJ, Goodman MS.
    • Clin Genet. 2016 Mar;89(3):378-84. doi: 10.1111/cge.12597. Epub 2015 May 5.
    • Beyond BRCA: Testing negative and living in the 'gray zone' for cancer risk.
    • [No author given]
    • My Gene Counsel. 2016 Feb 16.
    • Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
    • Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, Wang MY, Liu CY, Cheng FT, Yeh MH, Li HY, Yang YH, Hsu YH, Fan SC, Li LY, Yu SL, Chang KJ, Chen PL, Ni YH, Huang CS.
    • Oncotarget. 2016 Feb 16;7(7):8310-20. doi: 10.18632/oncotarget.7027.
    • Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.
    • Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP.
    • Cancer Discov. 2016 Feb;6(2):166-75. doi: 10.1158/2159-8290.CD-15-0402. Epub 2015 Dec 9.
    • Genetic characterization of early onset ovarian carcinoma.
    • Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM.
    • Gynecol Oncol. 2016 Feb;140(2):221-225. doi: 10.1016/j.ygyno.2015.12.017. Epub 2015 Dec 21.
    • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
    • Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S.
    • J Natl Compr Canc Netw. 2016 Feb;14(2):153-62.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: NCCN High-Risk Breast-Ovarian Guidelines 1.2016

    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • 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.
    • 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.
    • BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
    • Mafficini A, Simbolo M, Parisi A, Rusev B, Luchini C, Cataldo I, Piazzola E, Sperandio N, Turri G, Franchi M, Tortora G, Bovo C, Lawlor RT, Scarpa A.
    • Oncotarget. 2016 Jan 12;7(2):1076-83. doi: 10.18632/oncotarget.6834.
    • Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
    • Hu C, Hart SN, Bamlet WR, Moore RM, Nandakumar K, Eckloff BW, Lee YK, Petersen GM, McWilliams RR, Couch FJ.
    • Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):207-11. doi: 10.1158/1055-9965.EPI-15-0455. Epub 2015 Oct 19.
    • Genetic screening for gynecological cancer: where are we heading?
    • Manchanda R, Jacobs I.
    • Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
    • Editorial / Commentary
    • Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
    • Bradbury AR, Patrick-Miller LJ, Egleston BL, DiGiovanni L, Brower J, Harris D, Stevens EM, Maxwell KN, Kulkarni A, Chavez T, Brandt A, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM.
    • Genet Med. 2016 Jan;18(1):25-33. doi: 10.1038/gim.2015.19. Epub 2015 Apr 2.
    • Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
    • Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators, Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G.
    • J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3.
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information.
    • Kurian AW, Antoniou AC, Domchek SM.
    • Am Soc Clin Oncol Educ Book. 2016;35:44-56. doi: 10.14694/EDBK_158817.
    • How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
    • Lynce F, Isaacs C.
    • Am Soc Clin Oncol Educ Book. 2016;35:e72-e78. doi: 10.14694/EDBK_160391.
    • Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing.
    • Meghnani V, Mohammed N, Giauque C, Nahire R, David T.
    • Int J Genomics. 2016;2016:2059041. Epub 2016 Oct 13.
    • 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)

    • Identification of novel hereditary cancer genes by whole exome sequencing.
    • Sokolenko AP, Suspitsin EN, Kuligina ESh, Bizin IV, Frishman D, Imyanitov EN.
    • Cancer Lett. 2015 Dec 28;369(2):274-88. doi: 10.1016/j.canlet.2015.09.014. Epub 2015 Sep 30.
    • Review
    • The Science -- Or Lack Of It -- Behind Genetic Tests Offered In The Workplace.
    • David Shaywitz.
    • Forbes. 2015 Dec 18.
    • UK BRCA mutation testing in patients with ovarian cancer.
    • George A.
    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
    • Germline Mutations in Predisposition Genes in Pediatric Cancer.
    • Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR.
    • N Engl J Med. 2015 Dec 10;373(24):2336-2346. Epub 2015 Nov 18.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Ewing Sarcoma and early onset pancreatic cancer?

    Subject: Exome for Cancer LMN

    Editorial

    Defining Why Cancer Develops in Children.

    Letter

    Germline Mutations in Predisposition Genes in Pediatric Cancer.

    Reply / Letter

    Germline Mutations in Predisposition Genes in Pediatric Cancer.

    Research Highlight

    Cancer predisposition: Searching for early events.

    News

    Genetic mutations in paediatric cancer.

    Press: Why Some Children Get Cancer: Germline Mutations Found (Medscape)

    News: Destiny or chance? (Science Translational Medicine)

    • [Germline mutations of TP53 gene among Chinese families with high risk for breast cancer].
    • Yang X, Hu Z, Wu J, Liu G, Di G, Chen C, Hou Y, Huang X, Liu Z, Shen Z, Shao Z.
    • Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec 10;32(6):761-5. doi: 10.3760/cma.j.issn.1003-9406.2015.06.001.
    • [Article in Chinese]
    • [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
    • Macháčková E, Hazova J, Sťahlová Hrabincová E, Vašíčková P, Navrátilová M, Svoboda M, Foretová L.
    • Klin Onkol. 2015 Winter;29 Suppl 1:35-45.
    • [Article in Czech]
    • Utilization of Next Generation Multi-gene Panels Versus Single Gene Testing.
    • Zenas Chang, Jenny Backman, Sara Carroll, M. Heather Einstein.
    • Gynecologic Oncology. 2015 Dec;139(3):584. 2015 NEAGO ABSTRACTS. doi: 10.1016/j.ygyno.2015.09.023.
    • Conference abstract
    • Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families.
    • Singer CF, Tea MK, Pristauz G, Hubalek M, Rappaport C, Riedl CC, Helbich TH.
    • Wien Klin Wochenschr. 2015 Dec;127(23-24):981-6. doi: 10.1007/s00508-015-0880-x. Epub 2015 Nov 2.
    • Next-Generation Gene Sequencing: Looking Beyond Hereditary Breast and Ovarian Cancer.
    • Estrada SS, LeGrazie B, McKamie T2, Montgomery S.
    • Oncol Nurs Forum. 2015 Nov 1;42(6):691-4. doi: 10.1188/15.ONF.691-694.
    • Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Lerner-Ellis J, Khalouei S, Sopik V, Narod SA.
    • Expert Rev Anticancer Ther. 2015 Nov;15(11):1315-26. doi: 10.1586/14737140.2015.1090879. Epub 2015 Nov 2.
    • Review
    • More genes, more problems? Benefits and risks of multiplex genetic testing.
    • Norquist BM, Swisher EM.
    • Gynecol Oncol. 2015 Nov;139(2):209-210. doi: 10.1016/j.ygyno.2015.10.013.
    • Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.
    • Frey MK, Kim SH, Bassett RY, Martineau J, Dalton E, Chern JY, Blank SV.
    • Gynecol Oncol. 2015 Nov;139(2):211-215. doi: 10.1016/j.ygyno.2015.08.006. Epub 2015 Aug 18.
    • Usefulness of Multigene Testing: Catching the Train That's Left the Station.
    • Swisher EM.
    • JAMA Oncol. 2015 Oct 1;1(7):951-952. doi: 10.1001/jamaoncol.2015.2699.
    • Editorial / Commentary

    Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

    Press: Testing for more breast cancer genes offers useful information (Reuters Health)

    • Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
    • Desmond A, Kurian AW, Gabree M, Mills MA, Anderson MJ, Kobayashi Y, Horick N, Yang S, Shannon KM, Tung N, Ford JM, Lincoln SE, Ellisen LW.
    • JAMA Oncol. 2015 Oct 1;1(7):943-951. doi: 10.1001/jamaoncol.2015.2690.

    Comment

    Usefulness of Multigene Testing: Catching the Train That's Left the Station.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article Requestp

    Press: Multigene Panel Test Finds Mutations in BRCA-Negative Individuals. (Medscape Oncology)

    Press: Testing for more breast cancer genes offers useful information. (Reuters Health)

    Press: Monitoring Techniques for Hereditary Breast and Ovarian Cancer Being Developed. (Targeted Oncology)

    • Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
    • Howarth DR, Lum SS, Esquivel P, Garberoglio CA, Senthil M, Solomon NL.
    • Am Surg. 2015 Oct;81(10):941-4.
    • Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
    • Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, Banks KC.
    • Ann Surg Oncol. 2015 Oct;22(10):3282-8. doi: 10.1245/s10434-015-4754-2. Epub 2015 Jul 29.
    • Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
    • Minucci A, Scambia G, Santonocito C, Concolino P, Canu G, Mignone F, Saggese I, Guarino D, Costella A, Molinario R, De Bonis M, Ferrandina G, Petrillo M, Scaglione GL, Capoluongo E.
    • Expert Rev Mol Diagn. 2015 Oct;15(10):1383-403. doi: 10.1586/14737159.2015.1081059. Epub 2015 Aug 26.
    • Review
    • Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
    • Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M.
    • Iran J Public Health. 2015 Oct;44(10):1348-1352.
    • Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
    • Saam J, Arnell C, Theisen A, Moyes K, Marino I, Roundy KM, Wenstrup RJ.
    • Oncology. [2015 Oct;]89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.
    • 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.
    • Treatment Decision Making and Genetic Testing for Breast Cancer: Mainstreaming Mutations.
    • Katz SJ, Kurian AW, Morrow M.
    • JAMA. 2015 Sep 8;314(10):997-998. doi: 10.1001/jama.2015.8088.
    • Editorial / Commentary
    • Availability and payer coverage of BRCA1/2 tests and gene panels.
    • Clain E, Trosman JR, Douglas MP, Weldon CB, Phillips KA.
    • Nat Biotechnol. 2015 Sep 8;33(9):900-2. doi: 10.1038/nbt.3322.
    • Letter
    • Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
    • Aloraifi F, McDevitt T, Martiniano R, McGreevy J, McLaughlin R, Egan CM, Cody N, Meany M, Kenny E, Green AJ, Bradley DG, Geraghty JG, Bracken AP.
    • FEBS J. 2015 Sep;282(17):3424-37. doi: 10.1111/febs.13352. Epub 2015 Jul 14.
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
    • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.
    • Gastroenterology. 2015 Sep;149(3):604-613.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

    Editorial

    Next Generation Multigene Panel Testing: The Next Step for Identification of Hereditary Colorectal Cancer Syndromes?

    • A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.
    • Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW.
    • J Mol Diagn. 2015 Sep;17(5):533-44. doi: 10.1016/j.jmoldx.2015.04.009. Epub 2015 Jul 22.
    • Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Oyama T, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Sep;3(5):459-66. doi: 10.1002/mgg3.157. Epub 2015 May 12.
    • "The BRCA Responder" on Genetic Testing, Family Histories, and Why Counseling Is Key.
    • Kelly Johnson.
    • Oncology Nursing News. 2015 Aug 31.
    • Genetic Testing Can Lead to Insights — Or Uncertainty.
    • Lauren M. Green.
    • Cure. 2015 Aug 13.
    • Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
    • Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL.
    • Genet Med. 2015 Aug;17(8):630-638. doi: 10.1038/gim.2014.176. Epub 2014 Dec 11.
    • Testing for Hereditary Breast Cancer: Panel or Targeted Testing? Experience from a Clinical Cancer Genetics Practice.
    • Doherty J, Bonadies DC, Matloff ET.
    • J Genet Couns. 2015 Aug;24(4):683-7. doi: 10.1007/s10897-014-9796-2. Epub 2014 Dec 5.
    • Video: Genetic Testing for only $249?
    • [No author given].
    • My Gene Counsel. 2015 Jul 21.
    • Genetics of breast cancer: a topic in evolution.
    • Shiovitz S, Korde LA.
    • Ann Oncol. 2015 Jul;26(7):1291-9. doi: 10.1093/annonc/mdv022. Epub 2015 Jan 20.
    • HBOC multi-gene panel testing: comparison of two sequencing centers.
    • Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A.
    • Breast Cancer Res Treat. 2015 Jul;152(1):129-36. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29.
    • Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
    • Hernan I, Mañé B, Borràs E, de Sousa Dias M, Llort G, Yagüe C, Gamundi MJ, Arcusa À, Carballo M.
    • Clin Transl Oncol. 2015 Jul;17(7):576-80. doi: 10.1007/s12094-014-1271-x. Epub 2015 Jan 14.
    • The Challenges of Incorporating Gene Panels Into Clinical Practice.
    • Kate M. O'Rourke.
    • Medscape Oncology. American Society of Clinical Oncology (ASCO) 2015 Annual Meeting. 2015 Jun 22.
    • Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
    • Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP.
    • Hum Genomics. 2015 Jun 20;9:12. doi: 10.1186/s40246-015-0034-2.
    • The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.
    • D'Argenio V, Esposito MV, Telese A, Precone V, Starnone F, Nunziato M, Cantiello P, Iorio M, Evangelista E, D'Aiuto M, Calabrese A, Frisso G, D'Aiuto G, Salvatore F.
    • Clin Chim Acta. 2015 Jun 15;446:221-5. doi: 10.1016/j.cca.2015.03.045. Epub 2015 Apr 17.
    • 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.

    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer.
    • Marikkannu R, Aravidis C, Rantala J, Picelli S, Adamovic T, Keihas M, Liu T, Kontham V, Nilsson D, Lindblom A.
    • Anticancer Res. 2015 Jun;35(6):3155-65.
    • Exome sequencing in a breast cancer family without BRCA mutation.
    • Noh JM, Kim J, Cho DY, Choi DH, Park W, Huh SJ.
    • Radiat Oncol J. 2015 Jun;33(2):149-54. doi: 10.3857/roj.2015.33.2.149. Epub 2015 Jun 30.
    • Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer.
    • Aloraifi F, Boland MR, Green AJ, Geraghty JG.
    • Surg Oncol. 2015 Jun;24(2):100-9. doi: 10.1016/j.suronc.2015.04.003. Epub 2015 Apr 13.
    • Review
    • 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.
    • New Study on 'Very Hot Topic' in BRCA Testing.
    • Roxanne Nelson.
    • Medscape Medical News. American Society of Breast Surgeons (ASBS) 16th Annual Meeting. 2015 May 4.
    • Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.
    • Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B.
    • J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1.
    • Genetic tests to identify risk for breast cancer.
    • Lynch JA, Venne V, Berse B.
    • Semin Oncol Nurs. 2015 May;31(2):100-7. doi: 10.1016/j.soncn.2015.02.007. Epub 2015 Feb 26.
    • Review
    • For $249, Shouldn’t We All Have the Cancer Gene Panel?
    • [No author given]
    • My Gene Counsel. 2015 Apr 28.
    • Affordable access to a new genetic test for cancer.
    • Andrea.
    • Brave Bosom. 2015 Apr 21.
    • 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.
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • The Promise and Peril of Panel Genetic Testing for Inherited Cancer Susceptibility.
    • Jill Stopfer.
    • FORCE. Be Empowered Webinars. 2015 Mar 24.
    • Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
    • Ahlborn LB, Steffensen AY, Jønson L, Djursby M, Nielsen FC, Gerdes AM, Hansen TV.
    • Fam Cancer. 2015 Mar;14(1):129-33. doi: 10.1007/s10689-014-9747-y.
    • Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.
    • Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.
    • Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.

    Comment

    Inherited susceptibility to pancreatic cancer in the era of next-generation sequencing.

    Introductory Journal Article

    Covering the Cover

    CME Activities: Exam 2: Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer (Gastroenterology)

    • Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer.
    • Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.
    • J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.
    • Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Mar;3(2):121-9. doi: 10.1002/mgg3.120. Epub 2014 Dec 4.
    • Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.
    • Friedman E, Efrat N, Soussan-Gutman L, Dvir A, Kaplan Y, Ekstein T, Nykamp K, Powers M, Rabideau M, Sorenson J, Topper S.
    • Br J Cancer. 2015 Feb 17;112(4):765-768. doi: 10.1038/bjc.2015.14. Epub 2015 Jan 29.
    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • Genetic risk assessment for breast and gynecological malignancies.
    • Profato JL, Arun BK.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):1-5. doi: 10.1097/GCO.0000000000000142.
    • Review
    • Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
    • Kurian AW, Kingham KE, Ford JM.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):23-33. doi: 10.1097/GCO.0000000000000141.
    • Review
    • Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing.
    • Bradbury AR, Patrick-Miller L, Domchek S.
    • Genet Med. 2015 Feb;17(2):97-98. doi: 10.1038/gim.2014.85. Epub 2014 Jul 17.
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
    • Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman A.
    • Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Slides/Data from NSGC

    • Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
    • Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
    • EBioMedicine. 2015 Jan;2(1):74-81.
    • A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
    • Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL.
    • Genet Med. 2015 Jan;17(1):70-87. doi: 10.1038/gim.2014.147. Epub 2014 Nov 13.
    • Guidelines

    Addendum:

    Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    • Hereditary breast cancer syndromes and genetic testing.
    • Rich TA, Woodson AH, Litton J, Arun B.
    • J Surg Oncol. 2015 Jan;111(1):66-80. doi: 10.1002/jso.23791. Epub 2014 Nov 7.
    • Review
    • The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil.
    • Lajus TB.
    • Rev Saude Publica. 2015;49:71. doi: 10.1590/S0034-8910.2015049005988. Epub 2015 Oct 13.
    • Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples.
    • Arvai K, Horváth P, Balla B, Tőkés AM, Tobiás B, Takács I, Nagy Z, Lakatos P, Kósa JP.
    • Fam Cancer. 2014 Dec;13(4):583-9. doi: 10.1007/s10689-014-9730-7.
    • 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

    • Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer.
    • Domchek SM, Nathanson KL.
    • Genet Med. 2014 Nov;16(11):827-9. doi: 10.1038/gim.2014.56. Epub 2014 Jul 3.

    Podcast: The Use of Gene Panels in Diagnostic Next Generation Sequencing. (Genetics in Medicine GenePod)

    Archive

    • Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
    • LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.
    • Genet Med. 2014 Nov;16(11):830-837. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.

    Commentary:

    Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer.

    Podcast: The Use of Gene Panels in Diagnostic Next Generation Sequencing. (Genetics in Medicine GenePod)

    Archive

    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • gDNA enrichment by a transposase-based technology for NGS analysis of the whole sequence of BRCA1, BRCA2, and 9 genes involved in DNA damage repair.
    • Chevrier S, Boidot R.
    • J Vis Exp. 2014 Oct 6;(92):e51902. doi: 10.3791/51902.
    • 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.
    • Benefits, Beneficence, and Bending Ethics: Questionable Billing Practices for Multigene Panels?
    • Robert Resta.
    • The DNA Exchange, 2014 Sep 28.
    • Breast cancer genetic screening offers vital information, uncertainty.
    • Judy Peres.
    • Chicago Tribune, 2014 Sep 25.
    • Press article

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: NYT Article on Panel Testing- Risks, not answers

    • 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.
    • An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.
    • Lundy MG, Forman A, Valverde K, Kessler L.
    • J Genet Couns. 2014 Aug;23(4):618-32. doi: 10.1007/s10897-014-9692-9. Epub 2014 Feb 27.
    • Genetic testing and familial implications in breast-ovarian cancer families.
    • Oosterwijk JC, de Vries J, Mourits MJ, de Bock GH.
    • Maturitas. 2014 Aug;78(4):252-257. doi: 10.1016/j.maturitas.2014.05.002. Epub 2014 May 9.
    • Review
    • 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.

    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Comment, Editorial:

    Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.

    Press: Multiple-Gene Sequencing Panel Assesses Hereditary Cancer Risk. (Medscape/Reuters)

    Press: Study Supports Clinical Utility of Gene Panel Sequencing Approach. (GenomeWeb)

    Blog post: Gene panel screens dozens of genes for cancer-associated mutations. (ScienceBlog)

    • Opportunities and challenges of next-generation DNA sequencing for breast units.
    • Pilgrim SM, Pain SJ, Tischkowitz MD.
    • Br J Surg. 2014 Jul;101(8):889-98. doi: 10.1002/bjs.9458. Epub 2014 Mar 27.

    News

    Transforming Breast Cancer Care with NGS

    • Personalized therapy for breast cancer.
    • De Abreu FB, Schwartz GN, Wells WA, Tsongalis GJ.
    • Clin Genet. 2014 Jul;86(1):62-7. doi: 10.1111/cge.12381. Epub 2014 Apr 9.
    • Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
    • Wen H, Kim YC, Snyder C, Xiao F, Fleissner EA, Becirovic D, Luo J, Downs B, Sherman S, Cowan KH, Lynch HT, Wang SM.
    • BMC Cancer. 2014 Jun 26;14:470. doi: 10.1186/1471-2407-14-470.
    • Screening an Asymptomatic Person for Genetic Risk.
    • [No authors listed]
    • N Engl J Med. 2014 Jun 19;370(25):2442-2445.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: New England Journal of Medicine article/discussion on Screening an Asymptomatic Person for Genetic Risk

    • The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay.
    • Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM.
    • PLoS One. 2014 May 15;9(5):e97408. doi: 10.1371/journal.pone.0097408. eCollection 2014.
    • Large panel genetic testing produces more questions than answers in breast cancer.
    • [No author given]
    • Medical Express, 2014 May 14.
    • 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

    • Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
    • Ruiz A, Llort G, Yagüe C, Baena N, Viñas M, Torra M, Brunet A, Seguí MA, Saigí E, Guitart M.
    • Biomed Res Int. 2014;2014:542541. doi: 10.1155/2014/542541. Epub 2014 Jun 26.
    • Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
    • Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.
    • BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.
    • Supreme Court Ruling Broadens BRCA Testing Options.
    • Azvolinsky A.
    • J Natl Cancer Inst. 2013 Nov 20;105(22):1671-2. doi: 10.1093/jnci/djt342. Epub 2013 Nov 6.
    • The "New" Genetic Testing: What You Need to Know.
    • Rebecca Sutphen.
    • FORCE. Be Empowered Webinars. 2013 Nov 18.
    • Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
    • Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.
    • BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48.
    • The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?
    • Hilbers F, Vreeswijk M, van Asperen C, Devilee P.
    • Clin Genet. 2013 Nov;84(5):407-14. doi: 10.1111/cge.12256. Epub 2013 Sep 12.
    • Gene Panel Spots Mutations Other Breast Cancer Test Misses.
    • Neil Osterweil.
    • Medscape Medical News. Conference News. American Society of Human Genetics (ASHG) 63rd Annual Meeting. 2013 Oct 25.
    • Researchers Spar Over Tests for Breast Cancer Risks.
    • Jocelyn Kaiser.
    • ScienceInsider. 2013 Oct 24.
    • Questions For The Panel.
    • Robert Resta.
    • The DNA Exchange. 2013 Sep 29.
    • Has Myriad Learned Their Lesson?
    • Niki Lovick, Michelle Ernst.
    • Yale Cancer Genetic Counseling. 2013 Sep 11.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
    • Feliubadaló L, Lopez-Doriga A, Castellsagué E, Del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C.
    • Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19.

    Press: The Future of BRCA1/BRCA2 Testing. (OncLive)

    • Myriad BRCA Patents Nixed: What Happens Next?
    • Roxanne Nelson.
    • Medscape Medical News. Oncology. 2013 Jun 21.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Genetic breast cancer risk among black populations.
    • Philippa Brice.
    • PHG Foundation. 2013 Jun 4.
    • Mutations in susceptibility genes common in younger African American women with breast cancer.
    • John Easton.
    • EurekAlert!. 2013 Jun 3.
    • Breast cancer genes: beyond BRCA1 and BRCA2.
    • Filippini SE, Vega A.
    • Front Biosci (Landmark Ed). 2013 Jun 1;18:1358-72.
    • Myriad to Replace BRACAnalysis, Other Hereditary Cancer Tests with MyRisk Panel.
    • [No author given]
    • GenomeWeb. 2013 May 9.
    • Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.
    • Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J.
    • PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Personal genomic testing as part of the complete breast cancer risk assessment: a case report.
    • Riordan S, Rodriguez DF, Kieran S.
    • J Genet Couns. 2012 Oct;21(5):638-44. Epub 2012 May 19.
    • Case report
    • Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
    • Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.
    • PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

    Comment:

    Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.

    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.