Category: All HBOC

LitAlert ~~ GeneLit.com

    • Implications of the evidence for breast conservation therapy in BRCA-gene mutation carriers.
    • Tan MP.
    • Br J Radiol. 2020 Feb 26:20200038. doi: 10.1259/bjr.20200038. [Epub ahead of print]
    • Letter

    • Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations.
    • Lipton JH, Zargar M, Warner E, Greenblatt EE, Lee E, Chan KKW, Wong WWL.
    • Hum Reprod. 2020 Feb 25. pii: dez203. doi: 10.1093/humrep/dez203. [Epub ahead of print]

    • Oncologist-led BRCA 'mainstreaming' in the ovarian cancer clinic: A study of 255 patients and its impact on their management.
    • Rumford M, Lythgoe M, McNeish I, Gabra H, Tookman L, Rahman N, George A, Krell J.
    • Sci Rep. 2020 Feb 25;10(1):3390. doi: 10.1038/s41598-020-60149-5.

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    • Efficacy and safety of PARP inhibitors as the maintenance therapy in ovarian cancer: a meta-analysis of 9 randomized controlled trials.
    • Shao F, Liu J, Duan Y, Li L, Liu L, Zhang C, He S.
    • Biosci Rep. 2020 Feb 25. pii: BSR20192226. doi: 10.1042/BSR20192226. [Epub ahead of print]

    • TBCRC 031: Randomized Phase II Study of Neoadjuvant Cisplatin Versus Doxorubicin-Cyclophosphamide in Germline BRCA Carriers With HER2-Negative Breast Cancer (the INFORM trial).
    • Tung N, Arun B, Hacker MR, Hofstatter E, Toppmeyer DL, Isakoff SJ, Borges V, Legare RD, Isaacs C, Wolff AC, Marcom PK, Mayer EL, Lange PB, Goss A, Jenkins C, Krop IE, Winer EP, Schnitt SJ, Garber JE.
    • J Clin Oncol. 2020 Feb 25:JCO1903292. doi: 10.1200/JCO.19.03292. [Epub ahead of print]

    • Both BRCA1-wild type and -mutant triple-negative breast cancers show sensitivity to the NAE inhibitor MLN4924 which is enhanced upon MLN4924 and cisplatin combination treatment.
    • Misra S, Zhang X, Wani NA, Sizemore S, Ray A.
    • Oncotarget. 2020 Feb 25;11(8):784-800. doi: 10.18632/oncotarget.27485. eCollection 2020 Feb 25.

    • Both BRCA1-wild type and -mutant triple-negative breast cancers show sensitivity to the NAE inhibitor MLN4924 which is enhanced upon MLN4924 and cisplatin combination treatment.
    • Misra S, Zhang X, Wani NA, Sizemore S, Ray A.
    • Oncotarget. 2020 Feb 25;11(8):784-800. doi: 10.18632/oncotarget.27485. eCollection 2020 Feb 25.

    • LitAlert ~~ GeneLit.com

    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
    • Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.
    • Aging (Albany NY). 2020 Feb 24;12. doi: 10.18632/aging.102783. [Epub ahead of print]

    • Detection of BRCA1/2 Large Genomic Rearrangement including BRCA1 Promoter-Region Deletions using Next-Generation Sequencing.
    • Han E, Yoo J, Chae H, Lee , Kim DH, Joong Kim K, Kim Y, Kim M.
    • Clin Chim Acta. 2020 Feb 21. pii: S0009-8981(20)30087-5. doi: 10.1016/j.cca.2020.02.023. [Epub ahead of print]

    • Association of BRCA Mutantations and BRCAness Status With Anticancer Drug Sensitivities in Triple-Negative Breast Cancer Cell Lines.
    • Teraoka S, Muguruma M, Takano N, Miyahara K, Kawate T, Kaise H, Yamada K, Miyazawa K, Ishikawa T.
    • J Surg Res. 2020 Feb 21;250:200-208. doi: 10.1016/j.jss.2019.12.040. [Epub ahead of print]

    • Unmet information needs of men with breast cancer and health professionals.
    • Bootsma TI, Duijveman P, Pijpe A, Scheelings PC, Witkamp AJ, Bleiker EMA.
    • Psychooncology. 2020 Feb 10. doi: 10.1002/pon.5356. [Epub ahead of print]

    • Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up.
    • Pellini F, Mirandola S, Granuzzo E, Urbani S, Piccinni Leopardi G, Pollini GP.
    • J Oncol. 2020 Jan 31;2020:3987935. doi: 10.1155/2020/3987935. eCollection 2020.

    • Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
    • Rosenthal SH, Sun W, Zhang , Liu , Nguyen Q, Gerasimova , Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga , Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R.
    • Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020.

    • LitAlert ~~ GeneLit.com

    • Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention.
    • Ghezelayagh TS, Stewart LE, Norquist BM, Bowen DJ, Yu V, Agnew KJ, Pennington KP, Swisher EM.
    • Fam Cancer. 2020 Feb 24. doi: 10.1007/s10689-020-00166-5. [Epub ahead of print]

    • Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan
    • Alvarado M, Tiller GE, Chung J, Haque R.
    • J Community Genet. 2020 Feb 24. doi: 10.1007/s12687-020-00456-6. [Epub ahead of print]

    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djz241. doi: 10.1093/jnci/djz241. [Epub ahead of print]

    • miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil.
    • Pessôa-Pereira D, Evangelista AF, Causin RL, da Costa Vieira RA, Abrahão-Machado LF, Santana IVV, da Silva VD, de Souza KCB, de Oliveira-Silva RJ, Fernandes GC, Reis RM, Palmero EI, Marques MMC.
    • BMC Cancer. 2020 Feb 22;20(1):143. doi: 10.1186/s12885-020-6640-y.

    • Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.
    • Vos JR, Fakkert IE, de Hullu JA, van Altena AM, Sie AS, Ouchene H, Willems RW, Nagtegaal ID, Jongmans MCJ, Mensenkamp AR, Woldringh GH, Bulten J, Leter EM, Kets CM, Simons M, Ligtenberg MJL, Hoogerbrugge N, OPA Working Group.
    • J Natl Cancer Inst. 2020 Feb;112(2):161-169. doi: 10.1093/jnci/djz080.

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    • Salvage lymphadenectomy in recurrent ovarian cancer patients: Analysis of clinical outcome and BRCA1/2 gene mutational status.
    • Gallotta V, Bruno M, Conte C, Giudice MT, Davià F, Moro F, Zannoni GF, Fagotti A, De Bonis M, Capoluongo E, Scambia G, Ferrandina G.
    • Eur J Surg Oncol. 2020 Feb 6. pii: S0748-7983(20)30071-8. doi: 10.1016/j.ejso.2020.01.035. [Epub ahead of print]

    • Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
    • Reijnen C, Küsters-Vandevelde HVN, Ligtenberg MJL, Bulten J, Oosterwegel M, Snijders MPLM, Sweegers S, de Hullu JA, Vos MC, van der Wurff AAM, van Altena AM, Eijkelenboom A, Pijnenborg JMA.
    • Int J Cancer. 2020 Feb 5. doi: 10.1002/ijc.32907. [Epub ahead of print]

    • 'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
    • Medendorp NM, Hillen MA, van Maarschalkerweerd PEA, Aalfs CM, Ausems MGEM, Verhoef S, van der Kolk LE, Berger LPV, Wevers MR, Wagner A, Caanen BAH, Stiggelbout AM, Smets EMA.
    • Fam Cancer. 2020 Jan;19(1):65-76. doi: 10.1007/s10689-019-00154-4. Epub 2019 Nov 26.

    • LitAlert ~~ GeneLit.com

    • Biliary tract cancer and genomic alterations in homologous recombinant deficiency: exploiting synthetic lethality with PARP inhibitors.
    • Ahn DH, Bekaii-Saab T.
    • Chin Clin Oncol. 2020 Feb 20. pii: cco.2020.02.02. doi: 10.21037/cco.2020.02.02. [Epub ahead of print]

    • Evaluation of Triple-Negative Breast Cancer Early Detection via Mammography Screening and Outcomes in African American and White American Patients.
    • Chen Y, Susick L, Davis M, Bensenhaver J, Nathanson SD, Burns J, Newman LA.
    • JAMA Surg. 2020 Feb 19. doi: 10.1001/jamasurg.2019.6032. [Epub ahead of print]

    • Stathmin expression associates with vascular and immune responses in aggressive breast cancer subgroups.
    • Askeland C, Wik E, Finne K, Birkeland E, Arnes JB, Collett K, Knutsvik G, Krüger K, Davidsen B, Aas T, Eide GE, Stefansson IM, Foulkes WD, Akslen LA.
    • Sci Rep. 2020 Feb 19;10(1):2914. doi: 10.1038/s41598-020-59728-3.

    • BRCAness, SLFN11, and RB1 loss predict response to topoisomerase I inhibitors in triple-negative breast cancers.
    • Coussy F, El-Botty R, Château-Joubert S, Dahmani A, Montaudon E, Leboucher S, Morisset L, Painsec P, Sourd L, Huguet L, Nemati F, Servely JL, Larcher T, Vacher S, Briaux A, Reyes C, La Rosa P, Lucotte G, Popova T, Foidart P, Sounni NE, Noel A, Decaudin D, Fuhrmann L, Salomon A, Reyal F, Mueller C, Ter Brugge P, Jonkers J, Poupon MF, Stern MH, Bièche I, Pommier Y, Marangoni E.
    • Sci Transl Med. 2020 Feb 19;12(531). pii: eaax2625. doi: 10.1126/scitranslmed.aax2625.

    • Radiation Associated Secondary Malignancies in BRCA Mutation Carriers Treated for Breast Cancer.
    • Schlosser S, Rabinovitch R, Shatz Z, Galper S, Shahadi-Dromi I, Finkel S, Jacobson G, Rasco A, Friedman E, Laitman Y, Evron E, Bernstein R, Weiss I, Levy MS, Ben-David MA.
    • Int J Radiat Oncol Biol Phys. 2020 Feb 18. pii: S0360-3016(20)30219-4. doi: 10.1016/j.ijrobp.2020.02.020. [Epub ahead of print]

    • OlympiAD trial: moving to a next level of treatment for patients with BRCA mutation and her2-negative metastatic breast cancer.
    • Sanchez AM, Orlandi A, Franceschini G, De Lauretis F, Terribile D, Franco A, Masetti R.
    • Ann Palliat Med. 2020 Feb 16. pii: apm.2020.01.14. doi: 10.21037/apm.2020.01.14. [Epub ahead of print]

    • Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
    • Winn JS, Hasse Z, Slifker M, Pei J, Arisi-Fernandez SM, Talarchek JN, Obeid E, Baldwin DA, Gong Y, Ross E, Cristofanilli M, Alpaugh RK, Fernandez SV.
    • Int J Mol Sci. 2020 Feb 14;21(4). pii: E1290. doi: 10.3390/ijms21041290.

    • LitAlert ~~ GeneLit.com

    • Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.
    • Hynes J, MacMillan A, Fernandez S, Jacob K, Carter S, Predham S, Etchegary H, Dawson L.
    • Hered Cancer Clin Pract. 2020 Feb 19;18:3. doi: 10.1186/s13053-020-0136-2. eCollection 2019.

    • Geographic and Ethnic Heterogeneity of Germline BRCA1 or BRCA2 Mutation Prevalence Among Patients With Metastatic Pancreatic Cancer Screened for Entry Into the POLO Trial.
    • Golan T, Kindler HL, Park JO, Reni M, Macarulla T, Hammel P, Van Cutsem E, Arnold D, Hochhauser D, McGuinness D, Locker GY, Goranova T, Schatz P, Liu YZ, Hall MJ.
    • J Clin Oncol. 2020 Feb 19:JCO1901890. doi: 10.1200/JCO.19.01890. [Epub ahead of print]

    • Olaparib Versus Nonplatinum Chemotherapy in Patients With Platinum-Sensitive Relapsed Ovarian Cancer and a Germline BRCA1/2 Mutation (SOLO3): A Randomized Phase III Trial.
    • Penson RT, Valencia RV, Cibula D, Colombo N, Leath CA 3rd, Bidzinski M, Kim JW, Nam JH, Madry R, Hernández C, Mora PAR, Ryu SY, Milenkova T, Lowe ES, Barker L, Scambia G.
    • J Clin Oncol. 2020 Feb 19:JCO1902745. doi: 10.1200/JCO.19.02745. [Epub ahead of print]

    • Maximizing Breast Cancer Therapy with Awareness of Potential Treatment-Related Blood Disorders.
    • Kaplan HG, Calip GS, Malmgren JA.
    • Oncologist. 2020 Feb 19. doi: 10.1634/theoncologist.2019-0099. [Epub ahead of print]

    • Detection of molecular signatures of homologous recombination deficiency in prostate cancer with or without BRCA1/2 mutations.
    • Sztupinszki Z, Diossy M, Krzystanek M, Börcsök , Pomerantz MM, Tisza V, Spisák S, Rusz O, Csabai I, Freedman ML, Szallasi Z.
    • Clin Cancer Res. 2020 Feb 18. pii: clincanres.2135.2019. doi: 10.1158/1078-0432.CCR-19-2135. [Epub ahead of print]

    • Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.
    • Blesa S, Olivares MD, Alic AS, Serrano A, Lendinez V, González-Albert V, Olivares L, Martínez-Hervás S, Juanes JM, Marín P, Real JT, Navarro B, García-García AB, Chaves FJ, Ivorra C.
    • Clin Chem. 2020 Feb 18. pii: hvaa002. doi: 10.1093/clinchem/hvaa002. [Epub ahead of print]

    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
    • Yarmolinsky J, Bull CJ, Vincent EE, Robinson J, Walther A, Smith GD, Lewis SJ, Relton CL, Martin RM.
    • JAMA. 2020 Feb 18;323(7):646-655. doi: 10.1001/jama.2020.0150.

    • Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
    • Zhang X, Niu J, Che T, Zhu Y, Zhang H, Qu J.
    • Reprod Biol Endocrinol. 2020 Feb 18;18(1):11. doi: 10.1186/s12958-019-0561-0.

    • Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
    • Yanes T, Young MA, Meiser B, James PA.
    • Breast Cancer Res. 2020 Feb 17;22(1):21. doi: 10.1186/s13058-020-01260-3.

    • Homologous recombination deficiency status-based classification of high-grade serous ovarian carcinoma.
    • Takaya H, Nakai H, Takamatsu S, Mandai M, Matsumura N.
    • Sci Rep. 2020 Feb 17;10(1):2757. doi: 10.1038/s41598-020-59671-3.

    • Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician.
    • Bachert SE, McDowell A Jr, Piecoro D, Baldwin Branch L.
    • Diagnostics (Basel). 2020 Feb 13;10(2). pii: E102. doi: 10.3390/diagnostics10020102.

    • LitAlert ~~ GeneLit.com

    • Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.
    • Hynes J, MacMillan A, Fernandez S, Jacob K, Carter S, Predham S, Etchegary H, Dawson L.
    • Hered Cancer Clin Pract. 2020 Feb 19;18:3. doi: 10.1186/s13053-020-0136-2. eCollection 2019.

    • Geographic and Ethnic Heterogeneity of Germline BRCA1 or BRCA2 Mutation Prevalence Among Patients With Metastatic Pancreatic Cancer Screened for Entry Into the POLO Trial.
    • Golan T, Kindler HL, Park JO, Reni M, Macarulla T, Hammel P, Van Cutsem E, Arnold D, Hochhauser D, McGuinness D, Locker GY, Goranova T, Schatz P, Liu YZ, Hall MJ.
    • J Clin Oncol. 2020 Feb 19:JCO1901890. doi: 10.1200/JCO.19.01890. [Epub ahead of print]

    • Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.
    • Blesa S, Olivares MD, Alic AS, Serrano A, Lendinez V, González-Albert V, Olivares L, Martínez-Hervás S, Juanes JM, Marín P, Real JT, Navarro B, García-García AB, Chaves FJ, Ivorra C.
    • Clin Chem. 2020 Feb 18. pii: hvaa002. doi: 10.1093/clinchem/hvaa002. [Epub ahead of print]

    • Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
    • Yarmolinsky J, Bull CJ, Vincent EE, Robinson J, Walther A, Smith GD, Lewis SJ, Relton CL, Martin RM.
    • JAMA. 2020 Feb 18;323(7):646-655. doi: 10.1001/jama.2020.0150.