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Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma
  1. Dr de la Chapelle, delachapelle-1{at}medctr.osu.edu
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Chadwick RB, Pyatt RE, Niemann TH, et al
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

Publication history

  • First published July 1, 2001.
  • Figure 2Hereditary GAG(Glu) to GGG(Gly) mutation at codon 578 in exon 16 of MLH1 in endometrial sample 3. The upper two panels are of normal DNA (both directions, the reverse direction is reverse complemented) and the lower tumour DNA. This subject�s endometrial tumour is MSI high.

    Figure 3MLH1 immunohistochemistry of endometrial sample 3 normal and tumour tissue. Normal tissue shown in the upper photograph expresses MLH1 and tumour tissue shown in the lower part of the figure expresses virtually no MLH1 protein.

    Figure 4Hereditary GGC(Gly) to GAC(Asp) change at codon 322 in exon 6 of MSH2 in endometrial tumour 52. The upper two panels are of normal DNA (both directions, the reverse direction is reverse complemented) and the lower tumour DNA. This subject�s tumour is MSI high.

    Figure 5MSH2 immunohistochemistry of endometrial sample 52 normal and tumour tissue. The normal tissue stains strongly nuclear and the tumour tissue shows much weaker staining, suggesting loss of MSH2 expression.

    Figure 6MLH1 immunohistochemistry of endometrial sample 52 normal and tumour tissue. Normal tissue shown in the lower part of the photograph shows much stronger expression of MLH1 than tumour tissue in the upper part of the figure.

    Figure 7Truncating somatic mutations in exon 5 of MSH6. Endometrial tumour 50 has a 1 bp deletion in the coding C(8) repeat creating a stop codon at amino acid 1089 (panel 1). Endometrial tumour 57 has a 1 bp insertion in the C(8) repeat creating a stop codon at amino acid 1092 (panel 2).

    Figure 8MSH6 immunohistochemistry of endometrial sample 57 normal and tumour tissue. In the upper panel with normal tissue the staining is primarily nuclear. Endometrial tumour tissue in the lower panel shows much weaker staining and the MSH6 protein is primarily cytoplasmic.

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