Category: Mutation Spectrum

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    • 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]

    • 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]

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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]

    • 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.

    • 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]

    • 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

    • 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]

    • 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.

    • 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]

    • 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

    • 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.

    • 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.

    • The spectrum of BRCA1 and BRCA2 mutations and clinicopathological characteristics in Chinese women with early-onset breast cancer.
    • Chen L, Fu F, Huang M, Lv J, Zhang W, Wang C.
    • Breast Cancer Res Treat. 2020 Feb 18. doi: 10.1007/s10549-020-05573-x. [Epub ahead of print]

    • LitAlert ~~ GeneLit.com

    • Germline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel.
    • Kwong A, Shin VY, Chen J, Cheuk IW, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.
    • J Mol Diagn. 2020 Feb 14. pii: S1525-1578(20)30036-2. doi: 10.1016/j.jmoldx.2020.01.013. [Epub ahead of print]

    • A genome-wide association study on medulloblastoma.
    • Dahlin AM, Wibom C, Andersson U, Bybjerg-Grauholm J, Deltour I, Hougaard DM, Scheurer ME, Lau CC, McKean-Cowdin R, Kennedy RJ, Hung LT, Yee J, Margol AS, Barrington-Trimis J, Gauderman WJ, Feychting M, Schüz J, Röösli M, Kjaerheim K; Cefalo Study Group, Januszkiewicz-Lewandowska D, Fichna M, Nowak J, Searles Nielsen S, Asgharzadeh S, Mirabello L, Hjalmars U, Melin B.
    • J Neurooncol. 2020 Feb 13. doi: 10.1007/s11060-020-03424-9. [Epub ahead of print]

    • LitAlert ~~ GeneLit.com

    • Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
    • Nguyen-Dumont T, Steen JA, Winship I, Park DJ, Pope BJ, Hammet F, Mahmoodi M,nTsimiklis H, Theys D, Clendenning M, Giles GG, Hopper JL, Southey MC.
    • Fam Cancer. 2020 Feb 14. doi: 10.1007/s10689-020-00164-7. [Epub ahead of print]

    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Farengo Clark D, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]

    • An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice—A Review.
    • Rainone M, Singh I, Salo-Mullen EE, Stadler ZK, O’Reilly EM.
    • JAMA Oncol. 2020 Feb 13. doi: 10.1001/jamaoncol.2019.5963. [Epub ahead of print]
    • Review

    • Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
    • Angeli D, Salvi S, Tedaldi G.
    • Int J Mol Sci. 2020 Feb 8;21(3). pii: E1128. doi: 10.3390/ijms21031128.

    • Transmission of X-linked Ovarian Cancer: Characterization and Implications.
    • Etter JL, Moysich K, Kohli S, Lele S, Odunsi K, Eng KH.
    • Diagnostics (Basel). 2020 Feb 7;10(2). pii: E90. doi: 10.3390/diagnostics10020090.

    • Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.
    • Valiakhmetova A, Gorelyshev S, Konovalov A, Trunin Y, Savateev A, Kram DE, Severson E, Hemmerich A, Edgerly C, Duncan D, Britt N, Huang RSP, Elvin J, Miller V, Ross JS, Gay L, McCorkle J, Rankin A, Erlich RL, Chudnovsky Y, Ramkissoon SH.
    • Oncologist. 2020 Feb;25(2):e198-e202. doi: 10.1634/theoncologist.2019-0603. Epub 2019 Oct 16.

    • LitAlert ~~ GeneLit.com

    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Farengo Clark D, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]

    • An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice—A Review.
    • Rainone M, Singh I, Salo-Mullen EE, Stadler ZK, O’Reilly EM.
    • JAMA Oncol. 2020 Feb 13. doi: 10.1001/jamaoncol.2019.5963. [Epub ahead of print]
    • Review

    • Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12.
    • Meulemans L, Mesman RLS, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Léone M, Boutry-Kryza N, Sokolowska J, Révillion F, Delnatte C, Tubeuf H, Soukarieh O, Bonnet-Dorion F, Guibert V, Bronner M, Bourdon V, Lizard S, Vilquin P, Privat M, Drouet A, Grout C, Calléja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk MPG, Martins A, Gaildrat P.
    • Cancer Res. 2020 Feb 11. pii: canres.2491.2020. doi: 10.1158/0008-5472.CAN-19-2491. [Epub ahead of print]

    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
    • Vietri T, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Cioffi M, Molinari AM.
    • Eur J Med Genet. 2020 Feb 11. pii: S1769-7212(19)30865-1. doi: 10.1016/j.ejmg.2020.103883. [Epub ahead of print]

    • Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.
    • Frey MK, Lee SS, Gerber D, Schwartz ZP, Martineau J, Lutz K, Reese E, Dalton E, Olsen A, Girdler J, Pothuri B, Boyd L, Curtin JP, Levine DA, Blank SV.
    • Gynecol Oncol. 2020 Feb 11. pii: S0090-8258(20)30007X doi: 10.1016/j.ygyno.2020.01.007. [Epub ahead of print]

    • Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
    • Angeli D, Salvi S, Tedaldi G.
    • Int J Mol Sci. 2020 Feb 8;21(3). pii: E1128. doi: 10.3390/ijms21031128.

    • Transmission of X-linked Ovarian Cancer: Characterization and Implications.
    • Etter JL, Moysich K, Kohli S, Lele S, Odunsi K, Eng KH.
    • Diagnostics (Basel). 2020 Feb 7;10(2). pii: E90. doi: 10.3390/diagnostics10020090.

    • Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.
    • Valiakhmetova A, Gorelyshev S, Konovalov A, Trunin Y, Savateev A, Kram DE, Severson E, Hemmerich A, Edgerly C, Duncan D, Britt N, Huang RSP, Elvin J, Miller V, Ross JS, Gay L, McCorkle J, Rankin A, Erlich RL, Chudnovsky Y, Ramkissoon SH.
    • Oncologist. 2020 Feb;25(2):e198-e202. doi: 10.1634/theoncologist.2019-0603. Epub 2019 Oct 16.

    • In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.
    • Yadegari F, Majidzadeh K.
    • Mol Biol Res Commun. 2019 Dec;8(4):141-150. doi: 10.22099/mbrc.2019.34198.1420.