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Article

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

Familial cancer - 1 Oct 2017

Wilson Tremika Le-Shan, Hattangady Namita, Lerario Antonio Marcondes, Williams Carmen, Koeppe Erika, Quinonez Shane, Osborne Jenae, Cha Kelly B, Else Tobias

Abstract excerpt

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...

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Source

Identifiers

PMID: 28389767
DOI: 10.1007/s10689-017-9984-y

Genes

POT1
BRCA1
CDK4
PTEN

Provenance

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