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CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers. [5]
CHEK2 regulates cell cycle progression and spindle assembly during mouse oocyte maturation and early embryo development. [14] Although CHEK2 is a down stream effector of the ATM kinase that responds primarily to double-strand breaks it can also be activated by ATR (ataxia-telangiectasia and Rad3 related) kinase that responds primarily to single ...
A recent study of the genes ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2 and TP53 found 15,311 DNA sequence variants in only 102 patients. [3] Many of those 15,311 variants have no significant phenotypic effect. That is, a difference can be seen in the DNA sequence, but the differences have no effect on the growth or health of the person. [3]
ATM activates (phosphorylates) CHEK2 and FANCD2 [22] CHEK2 phosphorylates BRCA1. [23] Ubiquinated FANCD2 complexes with BRCA1 and RAD51 . [ 24 ] The PALB2 protein acts as a hub, [ 25 ] bringing together BRCA1, BRCA2 and RAD51 at the site of a DNA double-strand break, and also binds to RAD51C, a member of the RAD51 paralog complex RAD51B ...
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, [1] named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction.
As well as mutations to DNA damage repair genes, mutations also arise in the genes responsible for arresting the cell cycle to allow sufficient time for DNA repair to occur, and some genes are involved in both DNA damage repair and cell cycle checkpoint control, for example ATM and checkpoint kinase 2 (CHEK2) – a tumor suppressor that is ...
ATM activates (phosphorylates) CHEK2 and FANCD2 [10] CHEK2 phosphorylates BRCA1. [11] Ubiquinated FANCD2 complexes with BRCA1 and RAD51 . [ 12 ] The PALB2 protein acts as a hub, [ 13 ] bringing together BRCA1, BRCA2 and RAD51 at the site of a DNA double-strand break, and also binds to RAD51C, a member of the RAD51 paralog complex RAD51B ...
The National Comprehensive Cancer Network recommends self-breast examination starting at age 35 for men with mutations in either BRCA gene. [5] Mutations in other genes such as CHEK2, PALB2, PTEN, [33] ATM [4] and RAD51L3 (also termed RAD51D) [21] have been reported to occur uncommonly in, and may confer an increased risk of developing, MBC ...