POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer sy...
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundThe shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with diverse malignancies, including glioma, angiosarcoma, colorectal cancer and melanoma. Although s...
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Full title
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7427478
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7427478
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106657
