Your privacy, your choice

We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media.

By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some third parties are outside of the European Economic Area, with varying standards of data protection.

See our privacy policy for more information on the use of your personal data.

for further information and to change your choices.
Skip to main content
Fig. 2 | Hereditary Cancer in Clinical Practice

Fig. 2

From: A rare large duplication of MLH1 identified in Lynch syndrome

Fig. 2

Graphic representation of the MLH1 structure describing the consequences and location of the MLH1 duplication and the frameshift variant. (a) MLH1 duplication of exons 4–13 in family A leads to a frameshift at amino acid 520 and a premature stop codon at amino acid 539. (b) MLH1 frameshift variant at amino acid 425 in family B leads to a premature stop codon at amino acid 491. Both variants lead to the deletion of the MLH1 C-terminal domain, which is needed for the MLH1-PMS2 heterodimerization

Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287