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Fam Cancer. 2017 Oct;16(4):561-566. doi: 10.1007/s10689-017-9984-y.

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

Author information

1
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, 48109, USA.
2
Division of Cancer Genetics, Northwestern Medicine, Chicago, IL, 60611, USA.
3
Department of Internal Medicine, Division of Molecular Medicine, University of Michigan, Ann Arbor, MI, 48109, USA.
4
Department of Dermatology, University of Michigan, Ann Arbor, MI, 48109, USA.
5
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, 48109, USA. telse@umich.edu.

Abstract

Melanomas are associated with several hereditary conditions. We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant in POT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access. Germline mutations in POT1 were recently shown to be associated with hereditary predisposition to melanoma. Our findings support a role of POT1 germline mutations in cancer predisposition beyond melanoma development, suggesting a broader phenotype of the POT1-associated tumor predisposition syndrome that might also include thyroid cancer as well as possibly other malignant tumors.

KEYWORDS:

Melanoma; POT1; Telomere; Thyroid cancer

PMID:
28389767
DOI:
10.1007/s10689-017-9984-y
[Indexed for MEDLINE]

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