A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

doi:10.1186/bcr2223

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Article

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

Breast cancer research : BCR - 1 Jan 2009

Gómez García Encarna B, Oosterwijk Jan C, Timmermans Maarten, van Asperen Christi J, Hogervorst Frans B L, Hoogerbrugge Nicoline, Oldenburg Rogier, Verhoef Senno, Dommering Charlotte J, Ausems Margreet G E M, van Os Theo A M, van der Hout Annemarie H, Ligtenberg Marjolijn, van den Ouweland Ans, van der Luijt Rob B, Wijnen Juul T, Gille Jan J P, Lindsey Patrick J, Devilee Peter, Blok Marinus J, Vreeswijk Maaike P G

Abstract excerpt

INTRODUCTION: Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families. Information about cancer family history is usually available, but has rarely been used to evaluate UVs. The aim of the present study was to identify which is the best combination of clinical parameters that can predict whether a UV is deleterious, to be used for the...

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Identifiers

PMID: 19200354
DOI: 10.1186/bcr2223
PMCID: PMC2687711

Genes

BRCA2
BRCA1

Variants

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