Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

doi:10.1136/jmedgenet-2015-103570

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Article

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Journal of medical genetics - 1 Aug 2016

Fackenthal James D, Yoshimatsu Toshio, Zhang Bifeng, de Garibay Gorka R, Colombo Mara, De Vecchi Giovanna, Ayoub Samantha C, Lal Kumar, Olopade Olufunmilayo I, Vega Ana, Santamariña Marta, Blanco Ana, Wappenschmidt Barbara, Becker Alexandra, Houdayer Claude, Walker Logan C, López-Perolio Irene, Thomassen Mads, Parsons Michael, Whiley Phillip, Blok Marinus J, Brandão Rita D, Tserpelis Demis, Baralle Diana, Montalban Gemma, Gutiérrez-Enríquez Sara, Díez Orland, Lazaro Conxi, Spurdle Amanda B, Radice Paolo, de la Hoya Miguel

Abstract excerpt

BACKGROUND: BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance, some of which may affect normal splicing patterns and thereby disrupt gene function. mRNA analyses are therefore among the tests used to interpret the clinical...

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PMID: 27060066
DOI: 10.1136/jmedgenet-2015-103570

Genes

BRCA2
BRCA1

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