Author: Steve Kopczak

LitAlert ~~ GeneLit.com

    • Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
    • Buckley KH, Niccum BA, Maxwell KN, Katona BW.
    • Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.

    • The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
    • Garsed DW, Pandey A, Fereday S, Kennedy CJ, Takahashi K, Alsop K, Hamilton PT, Hendley J, Chiew YE, Traficante N, Provan P, Ariyaratne D, Au-Yeung G, Bateman NW, Bowes L, Brand A, Christie EL, Cunningham JM, Friedlander M, Grout B, Harnett P, Hung J, McCauley B, McNally O, Piskorz AM, Saner FAM, Vierkant RA, Wang C, Winham SJ, Pharoah PDP, Brenton JD, Conrads TP, Maxwell GL, Ramus SJ, Pearce CL, Pike MC, Nelson BH, Goode EL, DeFazio A, Bowtell DDL.
    • Nat Genet. 2020 Dec 1:1-9. doi: 10.1038/s41588-022-01230-9. Epub ahead of print.

    Related:

    •• Research news: Study Unearths Features Found in Long-Term Survivors of Advanced Ovarian Cancer. (GenomeWeb)

    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
    • Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H.
    • BMC Urol. 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1.

    • Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004–2019.
    • Winchar K, Lambert P, McManus KJ, Chodirker B, Kean S, Serfas K, Decker K, Nachtigal MW, Altman AD.
    • Curr Oncol. 2022 Nov 30;29(12):9365-9376. doi: 10.3390/curroncol29120735.

    • LitAlert ~~ GeneLit.com

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    • Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
    • Dong Z, Wang Y, Zhang J, Zhu F, Liu Z, Kang Y, Lin M, Shi H.
    • J Hum Genet. 2022 Nov 29. doi: 10.1038/s10038-022-01077-2. Epub ahead of print.

    • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
    • Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
    • J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.

    • [18F]FluorThanatrace ([18F]FTT) PET Imaging of PARP-inhibitor Drug-Target Engagement as a Biomarker of Response in Ovarian Cancer, a pilot study.
    • Pantel AR, Gitto SB, Makvandi M, Kim H, Medvedv S, Weeks JK, Torigian DA, Hsieh CJ, Ferman B, Latif NA, Tanyi JL, Martin LP, Lanzo SM, Liu F, Cao Q, Mills GB, Doot RK, Mankoff DA, Mach RH, Lin LL, Simpkins F.
    • Clin Cancer Res. 2022 Nov 28:CCR-22-1602. doi: 10.1158/1078-0432.CCR-22-1602. Epub ahead of print.

    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.

    • Halo Diagnostics, Ikonopedia Partner to Provide Genetic Testing for Breast Cancer.
    • [No author given]
    • Precision Oncology News. 2022 Nov 28.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • CCAR2 functions downstream of the Shieldin complex to promote double-strand break end-joining.
    • Iyer DR, Harada N, Clairmont C, Jiang L, Martignetti D, Nguyen H, He YJ, Chowdhury D, D'Andrea AD.
    • Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2214935119. doi: 10.1073/pnas.2214935119. Epub 2022 Nov 29.

    • LitAlert ~~ GeneLit.com

    • CCAR2 functions downstream of the Shieldin complex to promote double-strand break end-joining.
    • Iyer DR, Harada N, Clairmont C, Jiang L, Martignetti D, Nguyen H, He YJ, Chowdhury D, D'Andrea AD.
    • Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2214935119. doi: 10.1073/pnas.2214935119. Epub 2022 Nov 29.

    • BIA-ALCL Epidemiological Findings From a Retrospective Study of 248 Cases Extracted from Relevant Case Reports and Series: A Systematic Review.
    • Di Pompeo FS, Panagiotakos D, Firmani G, Sorotos M.
    • Aesthet Surg J. 2022 Nov 29:sjac312. doi: 10.1093/asj/sjac312. Epub ahead of print.

    • THE IMPACT OF PANCREATIC CANCER SCREENING ON LIFE EXPECTANCY: A SYSTEMATIC REVIEW OF MODELLING STUDIES.
    • Koopmann BDM, Omidvari AH, Lansdorp-Vogelaar I, Cahen DL, Bruno MJ, de Kok IMCM.
    • Int J Cancer. 2022 Nov 28. doi: 10.1002/ijc.34379. Epub ahead of print.
    • Review

    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.

    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.

    • 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.

    • LitAlert ~~ GeneLit.com

    • Systemic Therapy for Hereditary Breast Cancers.
    • Harvey-Jones EJ, Lord CJ, Tutt ANJ.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):203-224. doi: 10.1016/j.hoc.2022.08.018.

    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. 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.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. 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.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • 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.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Testing for Inherited Susceptibility to Breast Cancer.
    • Robson M.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.
    • Review

    • 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.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • 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.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review