Sequencing Technology – GeneLit

A pitfall in targeted Sanger sequencing of BRCA splicing variants in at-risk individuals.
He L, Zhang B, Yang J, Guan W, Miao S, Fan X.
Pathol Res Pract. 2021 Apr 28;222:153456. doi: 10.1016/j.prp.2021.153456. Epub ahead of print.

Letter

Germline and somatic mutation profile in Cancer patients revealed by a medium-sized pan-Cancer panel.
Li Z, Wang H, Zhang Z, Meng X, Liu D, Tang Y.
Genomics. 2021 Apr 17:S0888-7543(21)00156-7. doi: 10.1016/j.ygeno.2021.04.029. Epub ahead of print.

Germline structural variations in cancer predisposition genes.
Bozsik A, Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A.
Front Genet. 2021 Mar 8;21:634217. doi: 10.3389/fgene.2021.634217.

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Review
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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.
De Paolis E, Pietragalla A, De Bonis M, Fagotti A, Urbani A, Scambia G, Minucci A.
Mol Biol Rep. 2021 Mar 3. doi: 10.1007/s11033-021-06243-x. Epub ahead of print.

Case report

Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
Bennett S, Alexander E, Fraser H, Bowers N, Wallace A, Woodward ER, Lalloo F, Quinn AM, Huang S, Schlecht H, Evans DG.
Eur J Hum Genet. 2021 Mar 2. doi: 10.1038/s41431-021-00817-w. Epub ahead of print.

PMID: 33654310
PubMed abstract

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Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.
Weedon MN, Jackson L, Harrison JW, Ruth KS, Tyrrell J, Hattersley AT, Wright CF.
BMJ. 2021 Feb 15;372:n214. doi: 10.1136/bmj.n214.

PMID: 33589468
PubMed abstract

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Characterization of New ATM Deletion Associated with Hereditary Breast Cancer.
Parenti S, Rabacchi C, Marino M, Tenedini E, Artuso L, Castellano S, Carretta C, Mallia S, Cortesi L, Toss A, Barbieri E, Manfredini R, Luppi M, Trenti T, Tagliafico E.
Genes (Basel). 2021 Jan 21;12(2):136. doi: 10.3390/genes12020136.

Case report
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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.

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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.

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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