A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

doi:10.1186/1471-2407-9-211

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Article

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

BMC cancer - 29 Jun 2009

Mohammadi Leila, Vreeswijk Maaike P, Oldenburg Rogier, van den Ouweland Ans, Oosterwijk Jan C, van der Hout Annemarie H, Hoogerbrugge Nicoline, Ligtenberg Marjolijn, Ausems Margreet G, van der Luijt Rob B, Dommering Charlotte J, Gille Johan J, Verhoef Senno, Hogervorst Frans B, van Os Theo A, Gómez García Encarna, Blok Marinus J, Wijnen Juul T, Helmer Quinta, Devilee Peter, van Asperen Christi J, van Houwelingen Hans C

Abstract excerpt

BACKGROUND: Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of co-segregation of the variant with the disease in families is a powerful tool for the classification of these variants. Statistical methods have been described in literature but these methods are not always easy to apply in a diagnostic...

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Identifiers

PMID: 19563646
DOI: 10.1186/1471-2407-9-211
PMCID: PMC2714556

Genes

BRCA2
BRCA1

Variants

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