Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
    • Ben Aissa-Haj J, Pinheiron H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
    • Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.

    • BRCAShare-Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study.
    • Aeilts AM, Carpenter KM, Hovick SR, Byrne L, Shoben AB, Senter L.
    • J Genet Couns. 2022 Nov 25. doi: 10.1002/jgc4.1656. Epub ahead of print.

    • A review of the cost-effectiveness of genetic testing for germline variants in familial cancer.
    • Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H.
    • J Med Econ. 2022 Nov 25:1-38. doi: 10.1080/13696998.2022.2152233. Epub ahead of print.

    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.

    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.

    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.

    • Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
    • Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
    • Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.

    • Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.
    • Guan Y, Pathak S, Ballard D, Veluswamy JK, McCullough LE, McBride CM, Gornick MC.
    • Front Public Health. 2022 Nov 8;10:984926. doi: 10.3389/fpubh.2022.984926.

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

    • Differential responses to taxanes and PARP inhibitors in ATM- versus BRCA2-mutated metastatic castrate-resistant prostate cancer.
    • Su CT, Nizialek E, Berchuck JE, Vlachostergios PJ, Ashkar R, Sokolova A, Barata PC, Aggarwal RR, McKay RR, Agarwal N, McClure HM, Nafissi N, Bryce AH, Sartor O, Sayegh N, Cheng HH, Adra N, Sternberg CN, Taplin ME, Cieslik M, Alva AS, Antonarakis ES.
    • Prostate. 2022 Nov 16. doi: 10.1002/pros.24454. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Multiple-low-dose therapy: effective killing of high-grade serous ovarian cancer cells with ATR and CHK1 inhibitors.
    • Golder A, Nelson L, Tighe A, Barnes B, Coulson-Gilmer C, Morgan RD, McGrail JC, Taylor SS.
    • NAR Cancer. 2022 Nov 12 [eCollection 2022 Dec];4(4):zcac036. doi: 10.1093/narcan/zcac036.

    • Pre-Existing and Acquired Resistance to PARP Inhibitor-Induced Synthetic Lethality.
    • Viet Le B, Podszywalow-Bartnicka P, Piwocka K, Skorski T.
    • Cancers (Basel). 2022 Nov 24;14(23):5795. doi: 10.3390/cancers14235795.

    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.

    • Investigating Psychological Impact after Receiving Genetic Risk Results—A Survey of Participants in a Population Genomic Screening Program.
    • Zayac McCormick CZ, Dilzell Yu K, Johns A, Campbell-Salome G, Hallquist MLG, Sturm AC, Buchanan AH.
    • J Pers Med. 2022 Nov 22;12(12):1943. doi: 10.3390/jpm12121943.

    • Four-in-Five Eligible Breast Cancer Patients Not Informed of Genomic Testing Options.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 21.

    • BMN673 Is a PARP Inhibitor with Unique Radiosensitizing Properties: Mechanisms and Potential in Radiation Therapy.
    • Soni A, Lin X, Mladenov E, Mladenova V, Stuschke M, Iliakis G.
    • Cancers (Basel). 2022 Nov 16;14(22):5619. doi: 10.3390/cancers14225619.

    • Role of PARP Inhibitors in Cancer Immunotherapy: Potential Friends to Immune Activating Molecules and Foes to Immune Checkpoints.
    • Franzese O, Graziani G.
    • Cancers (Basel). 2022 Nov 16;14(22):5633. doi: 10.3390/cancers14225633.

    • Differential responses to taxanes and PARP inhibitors in ATM- versus BRCA2-mutated metastatic castrate-resistant prostate cancer.
    • Su CT, Nizialek E, Berchuck JE, Vlachostergios PJ, Ashkar R, Sokolova A, Barata PC, Aggarwal RR, McKay RR, Agarwal N, McClure HM, Nafissi N, Bryce AH, Sartor O, Sayegh N, Cheng HH, Adra N, Sternberg CN, Taplin ME, Cieslik M, Alva AS, Antonarakis ES.
    • Prostate. 2022 Nov 16. doi: 10.1002/pros.24454. Epub ahead of print.

    • Stellenwert der genetischen Testung beim Prostatakarzinom [Importance of genetic testing in prostate cancer].
    • Steinkellner L, Luger F, Loidl W.
    • Urologie. 2022 Nov 15. German. doi: 10.1007/s00120-022-01977-3. Epub ahead of print.
    • Review. [Article in German]

    • Characterization of Oncology Clinical Trials Using Germline Genetic Data.
    • Kammula AV, Schäffer AA, Rajagopal PS.
    • JAMA Netw Open. 2022 Nov 1;5(11):e2242370. doi: 10.1001/jamanetworkopen.2022.42370.

    • Aetiology, Epidemiology, Histopathology, Classification, Detailed Evaluation, and Treatment of Ovarian Cancer.
    • Zamwar UM, Anjankar AP.
    • Cureus. 2022 Oct 21;14(10):e30561. doi: 10.7759/cureus.30561.

    • LitAlert ~~ GeneLit.com

    • Stellenwert der genetischen Testung beim Prostatakarzinom [Importance of genetic testing in prostate cancer].
    • Steinkellner L, Luger F, Loidl W.
    • Urologie. 2022 Nov 15. German. doi: 10.1007/s00120-022-01977-3. Epub ahead of print.
    • Review. [Article in German]

    • Nest Genomics Building EHR-Integrated Clinical Decision Support for Genetics-Informed Care.
    • Cohen JK.
    • GenomeWeb. Disease Areas. Cancer. 2022 Oct 25.

    • LitAlert ~~ GeneLit.com

    • Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?
    • Laot L, Sonigo C, Nobre J, Benachi A, Dervin T, El Moujahed L, Mayeur A, Stoppa-Lyonnet D, Steffann J, Grynberg M.
    • Cancers (Basel). 2022 Nov 24;14(23):5769. doi: 10.3390/cancers14235769.

    • Pre-Existing and Acquired Resistance to PARP Inhibitor-Induced Synthetic Lethality.
    • Viet Le B, Podszywalow-Bartnicka P, Piwocka K, Skorski T.
    • Cancers (Basel). 2022 Nov 24;14(23):5795. doi: 10.3390/cancers14235795.

    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.

    • The prognostic role of systemic inflammatory markers in apparent early-stage ovarian cancer.
    • Bizzarri N, D'Indinosante M, Marchetti C, Tudisco R, Turchiano F, Scambia G, Fagotti A.
    • Int J Clin Oncol. 2022 Nov 22. doi: 10.1007/s10147-022-02272-z. Epub ahead of print.

    • Immune cells are increased in normal breast tissues of BRCA1/2 mutation carriers.
    • Ogony J, Hoskin TL, Stallings-Mann M, Winham S, Brahmbhatt R, Arshad MA, Kannan N, Peña A, Allers T, Brown A, Sherman ME, Visscher DW, Knutson KL, Radisky DC, Degnim AC.
    • Breast Cancer Res Treat. 2022 Nov 16. doi: 10.1007/s10549-022-06786-y. Epub ahead of print.

    • Role of PARP Inhibitors in Cancer Immunotherapy: Potential Friends to Immune Activating Molecules and Foes to Immune Checkpoints.
    • Franzese O, Graziani G.
    • Cancers (Basel). 2022 Nov 16;14(22):5633. doi: 10.3390/cancers14225633.

    • Contraceptives and cancer risks in BRCA1/2 pathogenic variant carriers: a systematic review and meta-analysis.
    • van Bommel MHD, IntHout J, Veldmate G, Kets CM, de Hullu JA, van Altena AM, Harmsen MG.
    • Hum Reprod Update. 2022 Nov 16:dmac038. doi: 10.1093/humupd/dmac038. Epub ahead of print.

    • Differential responses to taxanes and PARP inhibitors in ATM- versus BRCA2-mutated metastatic castrate-resistant prostate cancer.
    • Su CT, Nizialek E, Berchuck JE, Vlachostergios PJ, Ashkar R, Sokolova A, Barata PC, Aggarwal RR, McKay RR, Agarwal N, McClure HM, Nafissi N, Bryce AH, Sartor O, Sayegh N, Cheng HH, Adra N, Sternberg CN, Taplin ME, Cieslik M, Alva AS, Antonarakis ES.
    • Prostate. 2022 Nov 16. doi: 10.1002/pros.24454. Epub ahead of print.

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.

    • LitAlert ~~ GeneLit.com

    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.