Author: Steve Kopczak

    • Overview on population screening for carriers with germline BRCA mutation in China.
    • Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
    • Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.

    • LitAlert ~~ GeneLit.com

    • Overview on population screening for carriers with germline BRCA mutation in China.
    • Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
    • Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.

    • Rucaparib as a Salvage Treatment in Platinum-Sensitive Relapsed Ovarian Carcinoma: A Case Report.
    • Biswas G.
    • Cureus. 2022 Oct 17;14(10):e30405. doi: 10.7759/cureus.30405.

    • LitAlert ~~ GeneLit.com

    • Overview on population screening for carriers with germline BRCA mutation in China.
    • Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
    • Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.

    • Rucaparib as a Salvage Treatment in Platinum-Sensitive Relapsed Ovarian Carcinoma: A Case Report.
    • Biswas G.
    • Cureus. 2022 Oct 17;14(10):e30405. doi: 10.7759/cureus.30405.

    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.

    • Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.
    • O'Malley DM, Oza AM, Lorusso D, Aghajanian C, Oaknin A, Dean A, Colombo N, Weberpals JI, Clamp AR, Scambia G, Leary A, Holloway RW, Gancedo MA, Fong PC, Goh JC, Swisher EM, Maloney L, Goble S, Lin KK, Kwan T, Ledermann JA, Coleman RL.
    • Gynecol Oncol. 2022 Oct 20:S0090-8258(22)00575-3. doi: 10.1016/j.ygyno.2022.08.021. Epub ahead of print.

    Related:

    Identifier: NCT01968213: A Study of Rucaparib as Switch Maintenance Following Platinum-Based Chemotherapy in Patients With Platinum-Sensitive, High-Grade Serous or Endometrioid Epithelial Ovarian, Primary Peritoneal or Fallopian Tube Cancer (ARIEL3). (ClinicalTrials.gov . Accessed 2022 Oct 22.)

    • Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples.
    • Husain H, Pavlick DC, Fendler BJ, Madison RW, Decker B, Gjoerup O, Parachoniak CA, McLaughlin-Drubin M, Erlich RL, Schrock AB, Frampton GM, Das Thakur M, Oxnard GR, Tukachinsky H.
    • JCO Precis Oncol. 2022 Oct [20];6:e2200261. doi: 10.1200/PO.22.00261.

    • LitAlert ~~ GeneLit.com

    • Haplotyping pharmacogenes using TLA combined with Illumina or Nanopore sequencing.
    • Tilleman L, Rubben K, Van Criekinge W, Deforce D, Van Nieuwerburgh F.
    • Sci Rep. 2022 Oct 22;12(1):17734. doi: 10.1038/s41598-022-22499-0.

    • Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples.
    • Husain H, Pavlick DC, Fendler BJ, Madison RW, Decker B, Gjoerup O, Parachoniak CA, McLaughlin-Drubin M, Erlich RL, Schrock AB, Frampton GM, Das Thakur M, Oxnard GR, Tukachinsky H.
    • JCO Precis Oncol. 2022 Oct [20];6:e2200261. doi: 10.1200/PO.22.00261.

    • LitAlert ~~ GeneLit.com

    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report

    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.

    • Clinical and molecular characteristics of ARIEL3 patients who derived exceptional benefit from rucaparib maintenance treatment for high-grade ovarian carcinoma.
    • O'Malley DM, Oza AM, Lorusso D, Aghajanian C, Oaknin A, Dean A, Colombo N, Weberpals JI, Clamp AR, Scambia G, Leary A, Holloway RW, Gancedo MA, Fong PC, Goh JC, Swisher EM, Maloney L, Goble S, Lin KK, Kwan T, Ledermann JA, Coleman RL.
    • Gynecol Oncol. 2022 Oct 20:S0090-8258(22)00575-3. doi: 10.1016/j.ygyno.2022.08.021. Epub ahead of print.

    Related:

    Identifier: NCT01968213: A Study of Rucaparib as Switch Maintenance Following Platinum-Based Chemotherapy in Patients With Platinum-Sensitive, High-Grade Serous or Endometrioid Epithelial Ovarian, Primary Peritoneal or Fallopian Tube Cancer (ARIEL3). (ClinicalTrials.gov . Accessed 2022 Oct 22.)

    • LitAlert ~~ GeneLit.com

    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.

    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report

    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.