Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis-Reference-Cited by-同舟云学术

Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis

Published:2019-12-12 Issue:2 Volume:47 Page:1513-1520
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Minucci Angelo^ORCID,Mazzuccato Giorgia,D’Indinosante Marco,Di Nardo Lucia,Concolino Paola,De Bonis Maria,Urbani Andrea,Scambia Giovanni,Fagotti Anna,Capoluongo Ettore

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-019-05199-3.pdf

Reference11 articles.

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2. Houdayer C, Caux-Moncoutier V, Krieger S et al (2012) Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 33:1228–1238. https://doi.org/10.1002/humu.22101

3. Minucci A, Concolino P, De Bonis M et al (2018) Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Hum Genome Var 20(5):2. https://doi.org/10.6084/m9.figshare.hgv.1933

4. Minucci A, Lalle M, De Leo R et al (2019) Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G>A (p.Asp1778Asn) variant. Clin Biochem 63:54–58. https://doi.org/10.1016/j.clinbiochem.2018.10.004

5. Gaildrat P, Krieger S, Théry JC et al (2010) The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. J Med Genet 47:398–403. https://doi.org/10.1136/jmg.2009.074047

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