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    • Olaparib Efficacy in Patients with Metastatic Castration-resistant Prostate Cancer and BRCA1, BRCA2 or ATM Alterations Identified by Testing Circulating Tumor DNA.
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    • Clin Cancer Res. 2022 Nov 1:CCR-21-3577. doi: 10.1158/1078-0432.CCR-21-3577. Epub ahead of print.

    Related:

    •• Identifier: NCT02987543: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov . Accessed 2022 Nov 5.)

    • 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.
    • Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
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    • Cancer Cell Int. 2022 Oct 8;22(1):306. doi: 10.1186/s12935-022-02728-2.
    • Prevalence of pathogenic germline variants in the circulating tumor DNA testing.
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    • Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations.
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    • Analysis of BRCA2 Copy Number Loss and Genomic Instability in Circulating Tumor Cells from Patients with Metastatic Castration-resistant Prostate Cancer.
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    • Eur Urol. 2022 Sep 16:S0302-2838(22)02561-1. doi: 10.1016/j.eururo.2022.08.010. Epub ahead of print.
    • Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.
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    • Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk.
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    • Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound.
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    • Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives.
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    Related:

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    • Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
    • Sutcliffe EG, Mester JL, Susswein LR, Roberts ME, Marshall ML, Hruska KS.
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    • Whole-genome/exome analysis of circulating tumor DNA and comparison to tumor genomics from patients with heavily pre-treated ovarian cancer: subset analysis of the PERMED-01 trial.
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    • Front Oncol. 2022 Jul 29;12:946257. doi: 10.3389/fonc.2022.946257.

    Related:

    Identifier: NCT02342158: Identifying Molecular Alterations to Guide Individualized Treatment in Advanced Solid Tumors (PERMED01). (ClinicalTrials.gov)

    • Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free DNA Samples.
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    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
    • Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
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    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Related:

    Commentary:

    Patchwork Cancer Predisposition.

    • PARP-1 Expression and BRCA1 Mutations in Breast Cancer Patients' CTCs.
    • Sklias T, Vardas V, Pantazaka E, Christopoulou A, Georgoulias V, Kotsakis A, Vasilopoulos Y, Kallergi G.
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    • Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
    • Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E.
    • Cancers (Basel). 2022 Mar 23;14(7):1638. doi: 10.3390/cancers14071638.
    • Integrated Microfluidic System for Cell-Free DNA Extraction from Plasma for Mutant Gene Detection and Quantification.
    • Cheng YH, Wang CH, Hsu KF, Lee GB.
    • Anal Chem. 2022 Mar 15;94(10):4311-4318. doi: 10.1021/acs.analchem.1c04988. Epub 2022 Mar 2.
    • Next-generation sequencing of endoscopically obtained tissues from patients with all stages of pancreatic cancer.
    • Takano S, Fukasawa M, Shindo H, Takahashi E, Fukasawa Y, Kawakami S, Hayakawa H, Kuratomi N, Kadokura M, Yamaguchi T, Inoue T, Maekawa S, Enomoto N.
    • Cancer Sci. 2022 Mar;113(3):1069-1077. doi: 10.1111/cas.15249. Epub 2022 Jan 10.
    • Whole-genome risk prediction of common diseases in human preimplantation embryos.
    • Kumar A, Im K, Banjevic M, Ng PC, Tunstall T, Garcia G, Galhardo L, Sun J, Schaedel ON, Levy B, Hongo D, Kijacic D, Kiehl M, Tran ND, Klatsky PC, Rabinowitz M.
    • Nat Med. 2022 Mar;28(3):513-516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.

    Related:

    Commentary:

    Polygenic embryo testing: understated ethics, unclear utility.

    Commentary:

    The uncertain science of preimplantation and prenatal genetic testing.

    Press: Preimplantation Genetic Testing Could be Informed by Whole-Genome Reconstruction, Study Shows. (GenomeWeb)

    • Tetrahedral DNA Framework-Programmed Electrochemical Biosenors with Gold Nanoparticles for Ultrasensitive Cell-Free DNA Detection.
    • Wang C, Wang W, Xu Y, Zhao X, Li S, Qian Q, Mi X.
    • Nanomaterials (Basel). 2022 Feb 16;12(4):666. doi: 10.3390/nano12040666.
    • Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes.
    • Custódio N, Savisaar R, Carvalho C, Bak-Gordon P, Ribeiro MI, Tavares J, Nunes PB, Peixoto A, Pinto C, Escudeiro C, Teixeira MR, Carmo-Fonseca M.
    • Biomedicines. 2022 Jan 18;10(2):199. doi: 10.3390/biomedicines10020199.
    • Diagnostic histologique et moléculaire des cancers de l'ovaire - recommandations pour la pratique clinique Saint-Paul 2021: Histological and molecular diagnosis of ovarian.
    • Genestie C, Gladieff L, Frère-Belda ML, Lortholary A, Vaur D, Treilleux I, Lyonnet DS.
    • Bull Cancer. 2021 Dec;108(9S1):S33-S38. doi: 10.1016/S0007-4551(21)00585-3.
    • Guideline
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
    • Lieb V, Abdulrahman A, Weigelt K, Hauch S, Gombert M, Guzman J, Bellut L, Goebell PJ, Stöhr R, Hartmann A, Wullich B, Taubert H, Wach S.
    • Cells. 2021 Nov 18;10(11):3223. doi: 10.3390/cells10113223.
    • Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.
    • Jalloul N, Gomy I, Stokes S, Gusev A, Johnson BE, Lindeman NI, Macconaill L, Ganesan S, Garber JE, Khiabanian H.
    • JCO Precis Oncol. 2021 Nov 17;5:PO.21.00279. doi: 10.1200/PO.21.00279.

    Related:

    Letter, Commentary:

    Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing-A Quality Assurance Strategy.

    Letter, Reply:

    Reply to T. Ménard.

    • Validation of BRCA testing on cytologic samples of high-grade serous carcinoma.
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    • Cancer Cytopathol. 2021 Nov;129(11):907-913. doi: 10.1002/cncy.22484.
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    • Mol Biol Rep. 2021 Oct 13. doi: 10.1007/s11033-021-06812-0. Epub ahead of print.
    • Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
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    • Next Generation Sequencing of Tumor and Matched Plasma Samples: Identification of Somatic Variants in ctDNA From Ovarian Cancer Patients.
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    • High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
    • Janíková K, Vánová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L.
    • Neoplasma. 2021 Jul 14:210226N256. doi: 10.4149/neo_2021_210226N256. Epub ahead of print.
    • Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
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    • Elucidating Prostate Cancer Behaviour During Treatment via Low-pass Whole-genome Sequencing of Circulating Tumour DNA.
    • Sumanasuriya S, Seed G, Parr H, Christova R, Pope L, Bertan C, Bianchini D, Rescigno P, Figueiredo I, Goodall J, Fowler G, Flohr P, Mehra N, Neeb A, Rekowski J, Eisenberger M, Sartor O, Oudard S, Geffriaud-Ricouard C, Ozatilgan A, Chadjaa M, Macé S, Lord C, Baxter J, Pettitt S, Lambros M, Sharp A, Mateo J, Carreira S, Yuan W, de Bono JS.
    • Eur Urol. 2021 Jun 5:S0302-2838(21)01799-1. doi: 10.1016/j.eururo.2021.05.030. Epub ahead of print.
    • Circulating Tumor DNA Testing for Homology Recombination Repair Genes in Prostate Cancer: From the Lab to the Clinic.
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    • Can TP53 variant negative be high-grade serous ovarian carcinoma? A case series.
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    • Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
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    • The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
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    • Case report
    • Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing.
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    • The RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas.
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    • News

    Related:

    Guidelines:

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

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    Related:

    News, Interview: Q&A: ACMG Work Group Hoping to Spark Discussion on Reporting Germline Findings From Tumor Testing. (Precision Oncology News)

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