Article
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
Journal of medical genetics - 1 Oct 2020
Shen Erica, Xiu Joanne, Lopez Giselle Y, Bentley Rex, Jalali Ali, Heimberger Amy B, Bainbridge Matthew N, Bondy Melissa L, Walsh Kyle M
Abstract excerpt
BACKGROUND: The 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 somatic POT1 mutations promote telomere elongation and genome...
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