Category: All HBOC

LitAlert ~~ GeneLit.com

    • Remote Screening Test for Ovarian Cancer Receives Study Validation.
    • [No author given]
    • Clinical OMICs. 2020 Jun 2.

    • Risk stratification in breast cancer screening: cost-effectiveness and harm-benefit ratios for low-risk and high-risk women.
    • Sankatsing VDV, van Ravesteyn NT, Heijnsdijk EAM, Broeders MJM, de Koning HJ.
    • Int J Cancer. 2020 Jun 2. doi: 10.1002/ijc.33126. [Epub ahead of print]

    • Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
    • Aref-Eshghi E, McGee JD, Pedro VP, Kerkhof J, Stuart A, Ainsworth PJ, Lin H, Volodarsky M, McLachlin CM, Sadikovic B.
    • J Hum Genet. 2020 Jun 1. doi: 10.1038/s10038-020-0780-4. Epub ahead of print.

    • Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.
    • Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S, Livera G, Lopez BS, Misrahi M.
    • J Med Genet. 2020 Jun 1:jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672. Epub ahead of print.

    • Nouvelle stratégie chirurgicale dans les mastectomies bilatérales prophylactiques avec reconstruction par prothèses chez les patientes présentant une mutation du gène BRCA [New surgical strategy in breast reconstruction with implants for bilateral prophylactic mastectomies with BRCA gene mutation].
    • Deveaux C, Calibre C, Duquennoy-Martinot V, Guerreschi P, Dumont A.
    • Ann Chir Plast Esthet. 2020 May 29:S0294-1260(20)30077-7. French. doi: 10.1016/j.anplas.2020.05.004. Epub ahead of print.
    • [Article in French]

    • HRness in Breast and Ovarian Cancers.
    • Santana Dos Santos E, Lallemand F, Petitalot A, Caputo SM, Rouleau E.
    • Int J Mol Sci. 2020 May 28;21(11):E3850. doi: 10.3390/ijms21113850.

    • [New advances in targeted therapy for breast cancer].
    • Zhao J, Wu N, Zhang SC, Zhao ZW, Li LJ, Liu JT.
    • Zhonghua Zhong Liu Za Zhi. 2020 May 23;42(5):353-361. Chinese. doi: 10.3760/cma.j.cn112152-112152-20190919-00614.
    • Review, [Article in Chinese]

    • LitAlert ~~ GeneLit.com

    • Update: PARP inhibitors, rucaparib (Rubraca) and olaparib (Lynparza) receive FDA approval for metastatic prostate cancer.
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 1.

    Related:

    Drug Approval: FDA approves olaparib for HRR gene-mutated metastatic castration-resistant prostate cancer (U.S. Food & Drug Administration)

    • Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
    • Anderson A.
    • Precision Oncology News. 2020 May 31.

    • Olaparib Makes OS Gains in Ovarian Cancer.
    • [No authors listed]
    • Cancer Discov. 2020 May 29. doi: 10.1158/2159-8290.CD-NB2020-048. Epub ahead of print.
    • News

    • Ancestry-specific predisposing germline variants in cancer.
    • Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network, Hirsch FR, Ding L, Beroukhim R, Gümüs ZH, Plon SE, Huang KL.
    • Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.

    • Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis.
    • Im SA, Xu B, Li W, Robson M, Ouyang Q, Yeh DC, Iwata H, Park YH, Sohn JH, Tseng LM, Goessl C, Wu W, Masuda N.
    • Sci Rep. 2020 May 29;10(1):8753. doi: 10.1038/s41598-020-63033-4.

    • Bevacizumab or PARP-Inhibitors Maintenance Therapy for Platinum-Sensitive Recurrent Ovarian Cancer: A Network Meta-Analysis.
    • Bartoletti M, Pelizzari G, Gerratana L, Bortot L, Lombardi D, Nicoloso M, Scalone S, Giorda G, Baldassarre G, Sorio R, Puglisi F.
    • Int J Mol Sci. 2020 May 27;21(11):E3805. doi: 10.3390/ijms21113805.

    • ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer.
    • Trombetta MG, Dragun A, Mayr NA, Pierce LJ.
    • Pract Radiat Oncol. 2020 May 21:S1879-8500(20)30099-0. doi: 10.1016/j.prro.2020.04.003. Epub ahead of print.

    Related:

    Guideline:

    Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.

    • LitAlert ~~ GeneLit.com

    • Establishing a framework for the clinical translation of germline findings in precision oncology.
    • Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA.
    • JNCI Cancer Spectr. 2020 May 29; pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 May.

    • Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
    • Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
    • Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
    • Review

    Related:

    Commentary:

    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies—What’s New?

    • LitAlert ~~ GeneLit.com

    • Neoadjuvant Treatment for Triple Negative Breast Cancer: Recent Progresses and Challenges
    • Lee JS, Yost SE, Yuan Y.
    • Cancers (Basel). 2020 May 29;12(6):E1404. doi: 10.3390/cancers12061404.

    • Patients Having Ovaries Removed Without Clear Genetic, Medical Rationale, Study Suggests.
    • Ray T.
    • GenomeWeb. 2020 May 29.

    • Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer.
    • Chopra N, Tovey H, Pearson A, Cutts R, Toms C, Proszek P, Hubank M, Dowsett M, Dodson A, Daley F, Kriplani D, Gevensleben H, Davies HR, Degasperi A, Roylance R, Chan S, Tutt A, Skene A, Evans A, Bliss JM, Nik-Zainal S, Turner NC.
    • Nat Commun. 2020 May 29;11(1):2662. doi: 10.1038/s41467-020-16142-7.

    • Changing practice: moving to a specialist nurse-led service for BRCA gene testing.
    • Scott N, O'Sullivan J, Asgeirsson K, Macmillan D, Wilson E.
    • Br J Nurs. 2020 May 28;29(10):S6-S13. doi: 10.12968/bjon.2020.29.10.S6.

    • Protein expression profiling identifies differential modulation of homologous recombination by platinum-based antitumor agents.
    • He G, Xie X, Siddik ZH.
    • Cancer Chemother Pharmacol. 2020 May 28. doi: 10.1007/s00280-020-04085-1. Epub ahead of print.

    • Talazoparib Exposure-Efficacy Analysis in Patients With Advanced Breast Cancer and Germline BRCA1/2 Mutations in the EMBRACA Trial.
    • Yu Y, Elmeliegy M, Litton JK, Tudor IC, Czibere A, Zheng J, Wang DD.
    • J Clin Pharmacol. 2020 May 28. doi: 10.1002/jcph.1623. Epub ahead of print.

    • Exposure-Safety Analyses of Talazoparib in Patients With Advanced Breast Cancer and Germline BRCA1/2 Mutations in the EMBRACA and ABRAZO Trials.
    • Elmeliegy M, Yu Y, Litton JK, Czibere A, Wilson GG, Tudor IC, Zheng J, Wang DD.
    • J Clin Pharmacol. 2020 May 28. doi: 10.1002/jcph.1626. Epub ahead of print.

    • Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.
    • Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, Wang N, Guo M, Zhao G, Wang SM.
    • J Med Genet. 2020 May 28:jmedgenet-2020-106970. doi: 10.1136/jmedgenet-2020-106970. Epub ahead of print.

    • High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment.
    • Mazzuccato G, De Bonis M, Carboni V, Marchetti C, Urbani A, Scambia G, Capoluongo E, Fagotti A, Minucci A.
    • Mol Biol Rep. 2020 May 28. doi: 10.1007/s11033-020-05504-5. Epub ahead of print.

    • Utilization of health information technology among cancer genetic counselors.
    • Ritchie JB, Allen CG, Morrison H, Nichols M, Lauzon SD, Schiffman JD, Hughes Halbert C, Welch BM.
    • Mol Genet Genomic Med. 2020 May 28:e1315. doi: 10.1002/mgg3.1315. Epub ahead of print.

    • The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients - Slovenian population based study.
    • Gornjec A, Merlo S, Novakovic S, Stegel V, Gazic B, Perhavec A, Blatnik A, Krajc M.
    • Radiol Oncol. 2020 May 28;54(2):180-186. doi: 10.2478/raon-2020-0020.

    • LitAlert ~~ GeneLit.com

    • Germline Insights from NGS Somatic Testing: Clinical Challenges and Controversies.
    • Matloff ET, Giri VN, Nowak JA, Sotelo J, Silver DP.
    • Precision Oncology News. Resources: Webinars. 2020 Jun 1.

    • A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer.
    • Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders E.
    • Cancer Epidemiol Biomarkers Prev. 2020 May 28. doi: 10.1158/1055-9965.EPI-19-1551. Epub ahead of print.

    • Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
    • Alhopuro P, Vainionpää R, Anttonen AK, Aittomäki K, Nevanlinna H, Pöyhönen M.
    • Fam Cancer. 2020 May 28. doi: 10.1007/s10689-020-00186-1. [Epub ahead of print]

    • How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens.
    • O'Shea R, Rankin NM, Kentwell M, Gleeson M, Salmon L, Tucker KM, Lewis S, Taylor N.
    • Genet Med. 2020 May 28. doi: 10.1038/s41436-020-0838-x. Epub ahead of print.

    • Cancer du sein chez la femme jeune: considérations particulières et implications pour la pratique [Breast cancer in young women: implications for clinical practice].
    • Seidler S, Huber D.
    • Rev Med Suisse. 2020 May 27;16(695):1106-1113. French.
    • Review, [Article in French]

    • Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
    • Ray T.
    • Precision Oncology News. 2020 May 26.

    • Biomarker-Guided Development of DNA Repair Inhibitors.
    • Cleary JM, Aguirre AJ, Shapiro GI, D'Andrea AD.
    • Mol Cell. 2020 May 17:S1097-2765(20)30277-X. doi: 10.1016/j.molcel.2020.04.035. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Long-term response to Olaparib in carcinomatous meningitis of a BRCA2 mutated ovarian cancer: A case report.
    • Favier L, Truc G, Boidot R, Bengrine-Lefevre L.
    • Mol Clin Oncol. 2020 Jul;13(1):73-75. doi: 10.3892/mco.2020.2035. Epub 2020 Apr 27.

    • Olaparib for BRCA mutant pancreas cancer: Should the POLO trial change clinical practice?
    • Nishikawa G, Booth C, Prasad V.
    • Cancer. 2020 May 27. doi: 10.1002/cncr.32979. [Epub ahead of print]
    • Commentary

    • PARP Inhibitors in the Treatment of Early Breast Cancer: The Step Beyond?
    • Gonçalves A, Bertucci A, Bertucci F.
    • Cancers (Basel). 2020 May 27;12(65):E1378. doi: 10.3390/cancers12061378.

    • 3,3-Diindolylmethane (DIM): A nutritional intervention and its impact on breast density in healthy BRCA carriers. A prospective clinical trial.
    • Yerushalmi R, Bargil S, Bar Y, Ozlavo R, Tuval S, Rapson Y, Pomerantz A, Zoref D, Sharon E, Caspi O, Grubsrein A, Margel D.
    • Carcinogenesis. 2020 May 27:bgaa050. doi: 10.1093/carcin/bgaa050. Epub ahead of print. PMID: 32458980.

    • Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).
    • Henderson GE, Ewing M, Kuczynski KJ, Cadigan RJ, Waltz M, Butterfield RM, Rini C, Weck K, Berg JS, Edwards TP.
    • Eur J Hum Genet. 2020 May 26. doi: 10.1038/s41431-020-0657-1. Epub ahead of print.

    • Vitamin D in Triple-Negative and BRCA1-Deficient Breast Cancer-Implications for Pathogenesis and Therapy.
    • Blasiak J, Pawlowska E, Chojnacki J, Szczepanska J, Fila M, Chojnacki C.
    • Int J Mol Sci. 2020 May 23;21(10):E3670. doi: 10.3390/ijms21103670.

    • Wise Management of Ovarian Cancer: On the Cutting Edge.
    • Boussios S, Mikropoulos C, Samartzis E, Karihtala P, Moschetta M, Sheriff M, Karathanasi A, Sadauskaite A, Rassy E, Pavlidis N.
    • J Pers Med. 2020 May 21;10(2):E41. doi: 10.3390/jpm10020041.

    • Integrating Genetic and Genomic Testing Into Oncology Practice.
    • Domchek SM, Mardis E, Carlisle JW, Owonikoko TK.
    • Am Soc Clin Oncol Educ Book. 2020 May;40:e259-e263. doi: 10.1200/EDBK_280607.

    • Therapeutic Potential of Combining PARP Inhibitor and Immunotherapy in Solid Tumors.
    • Vikas P, Borcherding N, Chennamadhavuni A, Garje R.
    • Front Oncol. 2020 Apr 28;10:570. doi: 10.3389/fonc.2020.00570.

    • LitAlert ~~ GeneLit.com

    • Long-term response to Olaparib in carcinomatous meningitis of a BRCA2 mutated ovarian cancer: A case report.
    • Favier L, Truc G, Boidot R, Bengrine-Lefevre L.
    • Mol Clin Oncol. 2020 Jul;13(1):73-75. doi: 10.3892/mco.2020.2035. Epub 2020 Apr 27.

    • Integrating Genetic and Genomic Testing Into Oncology Practice.
    • Domchek SM, Mardis E, Carlisle JW, Owonikoko TK.
    • Am Soc Clin Oncol Educ Book. 2020 May;40:e259-e263. doi: 10.1200/EDBK_280607.

    • LitAlert ~~ GeneLit.com

    • Increased prevalence of BRCA1/2 mutations in women with macro-textured breast implants and anaplastic large cell lymphoma of the breast.
    • De Boer M, Hauptmann M, Hijmering NJ, van Noesel CJM, Rakhorst HA, Meijers-Heijboer HE, Boer JP, van der Hulst RR, De Jong D, van Leeuwen FE.
    • Blood. 2020 May 26:blood.2019004498. doi: 10.1182/blood.2019004498. Epub ahead of print.
    • Letter

    • Phase I Study of Veliparib on an Intermittent and Continuous Schedule in Combination with Carboplatin in Metastatic Breast Cancer: A Safety and [18F]-Fluorothymidine Positron Emission Tomography Biomarker Study.
    • Wesolowski R, Stover DG, Lustberg MB, Shoben A, Zhao M, Mrozek E, Layman RM, Macrae E, Duan W, Zhang J, Hall N, Wright CL, Gillespie S, Berger M, Chalmers JJ, Carey A, Balasubramanian P, Miller BL, Amaya P, Andreopoulou E, Sparano J, Shapiro CL, Villalona-Calero MA, Geyer S, Chen A, Grever MR, Knopp MV, Ramaswamy B.
    • Oncologist. 2020 May 26. doi: 10.1634/theoncologist.2020-0039. Epub ahead of print.

    • Complication rates among women undergoing preventive mastectomy: An Austrian registry.
    • Leser C, Deutschmann C, Dorffner G, Gschwantler-Kaulich D, Castillo DM, Abayev S, Stübler M, Reitsamer R, Singer C.
    • Breast J. 2020 May 25. doi: 10.1111/tbj.13877. Epub ahead of print.

    • Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.
    • Algebaly AS, Suliman RS, Al-Qahtani WS.
    • Clin Transl Oncol. 2020 May 25. doi: 10.1007/s12094-020-02385-9. Epub ahead of print.

    • PARP inhibition in the ovarian cancer patient: Current approvals and future directions.
    • Kurnit KC, Avila M, Hinchcliff E, Coleman RL, Westin SN.
    • Pharmacol Ther. 2020 May 22:107588. doi: 10.1016/j.pharmthera.2020.107588. Epub ahead of print.
    • Review

    • Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.
    • Kour A, Sambyal V, Guleria K, Singh NR, Uppal MS, Manjari M, Sudan M.
    • Genet Mol Biol. 2020 May 20;43(2):e20190014. doi: 10.1590/1678-4685-GMB-2019-0014.

    • Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer.
    • Gomes R, Soares BL, Felicio PS, Michelli R, Netto CBO, Alemar B, Ashton-Prolla P, Palmero EI, Moreira MÂM.
    • Genet Mol Biol. 2020 May 20;43(2):e20190072. doi: 10.1590//1678-4685-GMB-2019-0072.

    • Engaging Men With BRCA-Related Cancer Risks: Practical Advice for BRCA Risk Management From Male Stakeholders.
    • Dean M, Campbell-Salome G, Rauscher EA.
    • Am J Mens Health. 2020 May-Jun;14(3):1557988320924932. doi: 10.1177/1557988320924932.

    • LitAlert ~~ GeneLit.com

    • Complication rates among women undergoing preventive mastectomy: An Austrian registry.
    • Leser C, Deutschmann C, Dorffner G, Gschwantler-Kaulich D, Castillo DM, Abayev S, Stübler M, Reitsamer R, Singer C.
    • Breast J. 2020 May 25. doi: 10.1111/tbj.13877. Epub ahead of print.

    • Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.
    • Algebaly AS, Suliman RS, Al-Qahtani WS.
    • Clin Transl Oncol. 2020 May 25. doi: 10.1007/s12094-020-02385-9. Epub ahead of print.

    • PARP inhibition in the ovarian cancer patient: Current approvals and future directions.
    • Kurnit KC, Avila M, Hinchcliff E, Coleman RL, Westin SN.
    • Pharmacol Ther. 2020 May 22:107588. doi: 10.1016/j.pharmthera.2020.107588. Epub ahead of print.
    • Review

    • Engaging Men With BRCA-Related Cancer Risks: Practical Advice for BRCA Risk Management From Male Stakeholders.
    • Dean M, Campbell-Salome G, Rauscher EA.
    • Am J Mens Health. 2020 May-Jun;14(3):1557988320924932. doi: 10.1177/1557988320924932.

    • Utilization of Complementary Alternative Medicine, Diet, and Exercise Among Women at High Risk for Developing Breast Cancer.
    • Lee RT, Amico A, Malaka D, Lewin R, Cummings SA, Verp M, Patrick-Miller L, Bradbury AR, Olopade OI.
    • Integr Cancer Ther. 2020 Jan-Dec;19:1534735420922610. doi: 10.1177/1534735420922610. [First Published 2020 May 23.]