Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
    • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1685. Epub ahead of print.

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Suppression of GCH1 Sensitizes Ovarian Cancer and Breast Cancer to PARP Inhibitor.
    • Wang S, Xia Y, Huang P, Xu C, Qian Y, Fang T, Gao Q.
    • J Oncol. 2023 Feb 6;2023:1453739. doi: 10.1155/2023/1453739.

    • Oncogenetic pedigrees: Relation between design and ability to predict mutation.
    • Kwiatkowski F, Serlet L, Stos A.
    • Biosystems. 2023 Feb 4:104841. doi: 10.1016/j.biosystems.2023.104841. Epub ahead of print.

    • Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
    • Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
    • medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.

    • LitAlert ~~ GeneLit.com

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
    • Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
    • medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.

    • LitAlert ~~ GeneLit.com

    • Germline cancer gene expression quantitative trait loci are associated with local and global tumor mutations.
    • Liu Y, Gusev A, Kraft P.
    • Cancer Res. 2023 Feb 6:CAN-22-2624. doi: 10.1158/0008-5472.CAN-22-2624. Epub ahead of print.

    • Suppression of GCH1 Sensitizes Ovarian Cancer and Breast Cancer to PARP Inhibitor.
    • Wang S, Xia Y, Huang P, Xu C, Qian Y, Fang T, Gao Q.
    • J Oncol. 2023 Feb 6;2023:1453739. doi: 10.1155/2023/1453739.

    • LitAlert ~~ GeneLit.com

    • Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
    • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1685. Epub ahead of print.

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • Oncogenetic pedigrees: Relation between design and ability to predict mutation.
    • Kwiatkowski F, Serlet L, Stos A.
    • Biosystems. 2023 Feb 4:104841. doi: 10.1016/j.biosystems.2023.104841. Epub ahead of print.

    • Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
    • Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
    • medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.

    • LitAlert ~~ GeneLit.com

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
    • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1685. Epub ahead of print.

    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.

    • A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53).
    • Petry V, Colombo Bonadio R, Testa L, Cohn DJBH, Cagnacci A, Campos RG, Cândida Bv Fragoso M, del Pilar Estevez-Diz M.
    • Breast. 2023 Feb 6:S0960-9776(23)00025-5. doi: 10.1016/j.breast.2023.02.002. Epub ahead of print.

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Oncogenetic pedigrees: Relation between design and ability to predict mutation.
    • Kwiatkowski F, Serlet L, Stos A.
    • Biosystems. 2023 Feb 4:104841. doi: 10.1016/j.biosystems.2023.104841. Epub ahead of print.

    • Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
    • Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
    • medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.

    • LitAlert ~~ GeneLit.com

    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.

    • Sacituzumab govitecan in metastatic, triple-negative, BRCA-mutant breast cancer patient with active brain metastases: a case report.
    • Di Mauro P, Schivardi G, Pedersini R, Laini L, Esposito A, Amoroso V, Laganà M, Grisanti S, Cosentini D, Berruti A.
    • Front Oncol. 2023 Feb 6;13:1139372. doi: 10.3389/fonc.2023.1139372.

    • Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
    • Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
    • J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.

    • Hereditary Diffuse Gastric Cancer.
    • Decourtye-Espiard L, Guilford P.
    • Gastroenterology. 2023 Feb 3:S0016-5085(23)00110-5. doi: 10.1053/j.gastro.2023.01.038. Epub ahead of print.
    • Review

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • Germline TP53 pathogenic variants and breast cancer: A narrative review.
    • Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M.
    • Cancer Treat Rev. 2023 Jan 31;114:102522. doi: 10.1016/j.ctrv.2023.102522. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Hereditary Diffuse Gastric Cancer.
    • Decourtye-Espiard L, Guilford P.
    • Gastroenterology. 2023 Feb 3:S0016-5085(23)00110-5. doi: 10.1053/j.gastro.2023.01.038. Epub ahead of print.
    • Review

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • Germline TP53 pathogenic variants and breast cancer: A narrative review.
    • Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M.
    • Cancer Treat Rev. 2023 Jan 31;114:102522. doi: 10.1016/j.ctrv.2023.102522. Epub ahead of print.