Sequencing Technology – GeneLit

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Fluorometric determination of the breast cancer 1 gene based on the target-induced conformational change of a DNA template for copper nanoclusters.
Liu J, Wang T, Xiao B, Deng M, Yu P, Qing T.
Anal Methods. 2021 Jan 22. doi: 10.1039/d0ay01712d. Epub ahead of print.

Clinical application of liquid biopsies to detect somatic BRCA1/2 mutations and guide potential therapeutic intervention for patients with metastatic breast cancer.
Vidula N, Ellisen LW, Bardia A.
Oncotarget. 2021 Jan 19;12(2):63-65. doi: 10.18632/oncotarget.27863.

Source abstract

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
Lepkes L, Kayali M,, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C.
Cancers (Basel). 2021 Jan 1;13(1):E118. doi: 10.3390/cancers13010118.

Source abstract

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Droplet Digital PCR for Large Genomic Rearrangements detection: a promising strategy in tissue BRCA1 testing.
De Paolis E, De Bonis M, Concolino P, Piermattei A, Fagotti A, Urbani A, Scambia G, Minucci A, Capoluongo E.
Clin Chim Acta. 2020 Dec 7:S0009-8981(20)30562-3. doi: 10.1016/j.cca.2020.12.001. Epub ahead of print.

CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
J Med Genet. 2020 Oct 15:jmedgenet-2020-107320. doi: 10.1136/jmedgenet-2020-107320. Epub ahead of print.

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Case report

Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
Wu H, Xu B, Gao Q, Zhou X, Shao J, Liang Z, Ma D.
Mol Diagn Ther. 2020 Sep 24. doi: 10.1007/s40291-020-00489-0. Epub ahead of print.

A microfluidic chip for rapid analysis of DNA melting curves for BRCA2 mutation screening.
Lin X, Nagl S.
Lab Chip. 2020 Sep 14. doi: 10.1039/d0lc00624f. Epub ahead of print.

Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.

PMID: 32903564
PubMed abstract

Case report
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Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
Rivera D, Paudice M, Gismondi V, Anselmi G, Vellone VG, Varesco L; Ligurian BRCA Working Group.
J Clin Pathol. 2020 Sep 7:jclinpath-2020-206840. doi: 10.1136/jclinpath-2020-206840. Epub ahead of print.

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
Deuitch N, Li ST, Courtney E, Shaw T, Dent R, Tan V, Yackowski L, Torene R, Berkofsky-Fessler W, Ngeow J.
Hum Genome Var. 2020 Aug 25;7:24. doi: 10.1038/s41439-020-00111-z.

PMID: 32884827
PubMed abstract

Ultrasensitive colorimetric biosensor for BRCA1 mutation based on multiple signal amplification strategy.
Bai Y, Li H, Xu J, Huang Y, Zhang X, Weng J, Li Z, Sun L.
Biosens Bioelectron. 2020 Oct 15;166:112424. doi: 10.1016/j.bios.2020.112424. Epub 2020 Jul 11.