A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer.

A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer. Thyroid. 2020 Feb 11;: Authors: Zhao Y, Yu T, Chen L, Xie D, Wang F, Fu L, Cheng C, Li Y, Zhu X, Miao G Abstract Approximately 5% of all cases of PTC are inherited. However, the susceptibility gene(s) for nonsyndromic familial papillary thyroid carcinoma (FPTC) remain unclear. We performed whole genome sequencing (WGS) of peripheral-blood DNA samples from two affected family members with PTC. CHEK2 transcript expression and the protein levels of CHK2 and p53 were evaluated in the thyroid tissues from two affected members of the kindred and sporadic PTC cases. The entire CHEK2 coding sequence was examined by Sanger sequencing in blood DNA samples from 242 sporadic PTC patients. We identified a novel heterozygous germline mutation in CHEK2 (c.417C→A) that was detected in all available affected members of a kindred with FPTC. This variant was found in only one out of 264,200 persons in the Genome Aggregation Database and the NHLBI Trans-Omics for Precision Medicine program. The CHEK2 c.417C→A variant introduces a premature termination codon (Y139X). We found reduced CHK2 protein expression in tumor samples from the two patients who carried the variant as compared to sporadic cases without the variant. The Y139X loss-of-function variant led to reduced p53 phosphorylation and decreased p53 protein abundance. Additionally, two rare missense variants (R180C and H371Y) in CHEK2 were id...
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research

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Source: Journal of Mammary Gland Biology and Neoplasia - Category: Cancer & Oncology Source Type: research
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Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
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Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
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Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
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Source: Acta Biochimica et Biophysica Sinica - Category: Biochemistry Authors: Tags: Acta Biochim Biophys Sin (Shanghai) Source Type: research
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