Sequencing Technology – GeneLit

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.

Source abstract

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.

Assessment of tumor suppressor promoter methylation in healthy individuals.
Poduval DB, Ognedal E, Sichmanova Z, Valen E, Iversen GT, Minsaas L, Lønning PE, Knappskog S.
Clin Epigenetics. 2020 Aug 28;12(1):131. doi: 10.1186/s13148-020-00920-7.

PMID: 32859265
PubMed abstract

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Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.
Peixoto A, Pinto P, Guerra J, Pinheiro M, Santos C, Pinto C, Santos R, Escudeiro C, Bartosch C, Canário R, Barbosa A, Gouveia A, Petiz A, Abreu MH, Sousa S, Pereira D, Silva J, Teixeira MR.
Front Oncol. 2020 Jul 31;10:1318. doi: 10.3389/fonc.2020.01318.

PMID: 32850417
PubMed abstract

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Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
Park K, Kim MK, Lee T, Hong J, Kim HK, Ahn S, Lee YJ, Kim J, Lee SW, Lee JW, Lee W, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
J Clin Lab Anal. 2020 Aug 19:e23524. doi: 10.1002/jcla.23524. Epub ahead of print.

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[Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing].
Minucci A, Mazzuccato G, Marchetti C, Pietragalla A, Scambia G, Fagotti A, Urbani A.
Mol Biol (Mosk). 2020 May-Jun;54(4):688-698. Russian. doi: 10.31857/S0026898420040114.

[Article in Russian.]