Association between missense variants of uncertain significance in the <i>CHEK2</i> gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.

Authors:
Alonso N; Menao S; Lastra R; Arruebo M; Bueso MP and 13 more

Journal:
Front Genet

Publication Year: 2024

DOI:
10.3389/fgene.2023.1274108

PMCID:
PMC10927753

PMID:
38476463

Journal Information

Journal Title: Front Genet

Detailed journal information not available.

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"even though no full-length structure experimentally solved is available partial high-resolution structures of chk2 encompassing the fha or kinase domain have been released e g pdb 1gxc (2 7 a residues92-207) ( ) and pdb 2cn5 (2 25 a residues210-504) ( ).; figure 4 chk2 structure domains and main features (a) chk2 structure (cartoon) with the highest coverage (homodimeric biological unit) released in pdb 3i6u ( ) (b) fha domain (pdb 1gcx ( ) cartoon) with the mutation spots of the vus highlighted in orange (sticks) and the flexible long loop highlighted in magenta."

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"Conflict of interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest."

Evidence found in paper:

"The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The authors received financial support from grants PID 2019-107293 GB-I00, PID 2022-141068NB-I00 (MICINN, Spain), and E45_23R (Gobierno de Aragón, Spain)."

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Last Updated: Aug 05, 2025