Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors
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DOI: 10.3390/genes13040644
Abstract: Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the PTEN gene have been previously identified in patients… read more here.
Keywords: promoter; promoter variant; breast; variant ... See more keywords
PTEN Promoter Hypermethylation Is Associated with Breslow Thickness in Acral Melanoma on the Heel, Forefoot, and Hallux
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DOI: 10.5021/ad.2021.33.1.18
Abstract: Background Acral melanoma occurs on glabrous skin or the nail apparatus and is distinct from ultraviolet-related melanoma due to differing genetic alteration patterns. Although the pathogenesis of acral melanoma is not well understood, mechanical stress… read more here.
Keywords: melanoma; acral melanoma; pten promoter; promoter hypermethylation ... See more keywords