Category: Sequencing Technology

    • Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
    • Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A.
    • Front Oncol. 2021 Aug 20;10:700853. doi: 10.3389/fonc.2021.700853.

    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.

    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Jun 17. doi: 10.1016/j.cancergen.2021.06.003. Epub ahead of print.

    • Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
    • Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancers (Basel). 2021 Jul 3;13(13):3341. doi: 10.3390/cancers13133341.

    • LitAlert ~~ GeneLit.com

    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French COVAR Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.

    • Multiplexed and amplified chemiluminescence resonance energy transfer (CRET) detection of genes and microRNAs using dye-loaded hemin/G-quadruplex-modified UiO-66 metal-organic framework nanoparticles.
    • Zhang P, Ouyang Y, Willner I.
    • Chem Sci. 2021 Feb 8;12(13):4810-4818. doi: 10.1039/d0sc06744j.

    • LitAlert ~~ GeneLit.com

    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.

    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021;5:1044. doi: 10.1200/PO.20.00454. Epub 2021 Jun 17.
    • Case report

    • Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
    • Chang TY, Chen SW, Lin WH, Huang CE, Evans MI, Chung IF, Wu JW, Ma GC, Chen M.
    • Diagnostics (Basel). 2021 Jun 16;11(6):E1102. doi: 10.3390/diagnostics11061102.

    • 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.

    • 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.