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. 2003 Jan;72(1):213-6.
doi: 10.1086/345297.

Early onset brain tumor and lymphoma in MSH2-deficient children

Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M Ruchoux, Nathalie Drouot, Thierry Frébourg

Early onset brain tumor and lymphoma in MSH2-deficient children

Gaëlle Bougeard et al. Am J Hum Genet. 2003 Jan.
No abstract available

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Figures

Figure 1
Figure 1
Partial pedigree of the family. Filled symbols denote affected subjects; open symbols denote asymptomatic subjects; oblique line denote deceased. Numbers beside symbols are subject identifiers. The ages of unaffected individuals are indicated. For affected subjects, the tumor type and the age at diagnosis or of death (in parentheses) are indicated. Ca = cancer; y = years; mo = months.
Figure 2
Figure 2
Detection of the MSH2 alterations. A, Heterozygous deletion of MSH2 exons 1–6 in the father (individual III.1) detected by QMPSF. The electropherogram of the father (red) was superposed on that of a control individual (blue). The Y-axis displays fluorescence in arbitrary units, and the X-axis indicates the size in bp. This result was obtained on two independent samples. B, Heterozygous 1-bp deletion within exon 3 detected in the mother (individual III.2). C, Hemizygous 1-bp deletion within exon 3, detected in the brain tumor developed in individual IV.2. In panels B and C, sequences correspond to the noncoding strand.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for hereditary nonpolyposis colorectal cancer [MIM 114500] and Turcot syndrome [MIM 276300])

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