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Last update 08 May 2025

MCPH1

Last update 08 May 2025

Basic Info

Synonyms

BRIT1, FLJ12847, MCPH1

+ [2]

Introduction

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.

Drugs associated with MCPH1

V–IDR1018

Target

IL-10 x IL-1β x MCPH1

Mechanism

IL-10 stimulants [+2]

Active Org.

University of British Columbia

Originator Org.

University of British Columbia

Active Indication

Bacterial Infections

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with MCPH1

100 Translational Medicine associated with MCPH1

0 Patents (Medical) associated with MCPH1

256

Literatures (Medical) associated with MCPH1

01 May 2025·Breast Cancer Research and Treatment

Population-based study of recurrent DNA damage response gene variants in breast cancer cases

Article

Author: Koivuluoma, Susanna ; Grip, Mervi ; Seuranen, Meeri ; Mantere, Tuomo ; Pylkäs, Katri ; Tervasmäki, Anna ; Winqvist, Robert ; Kumpula, Timo A

AbstractPurposeSeveral variants in DNA damage response (DDR) genes increase the probability to develop breast cancer and show enrichment in Northern Finland. Here, the population prevalence and risk estimations were refined for sixteen recurrent pathogenic/likely pathogenic DDR gene variants.MethodsVariant genotyping was performed in 2343 unselected Northern Finnish breast cancer cases and 4607 cancer-free controls, and tumor features and family history of cancer for the carriers were examined.ResultsBased on their prevalence and carrier family history, the studied BRCA1 and BRCA2 variants, PALB2 c.1592delT, and ATM c.7570G > C were confirmed as high-risk alleles, whereas CHEK2 c.1100delC, MCPH1 c.909_921del, and RAD50 c.687delT were moderate-risk alleles. FANCM c.5101C > T and c.5791C > T did not associate with overall breast cancer risk. Double carriers were significantly more common in cases (0.5%, 11/2343) than controls (0.07%, 3/4601, OR 7.2). The BRCA1/2 and PALB2 c.1592delT carrier tumors all had high proliferation rates, PALB2 c.1592delT associating also with grade 3 tumors (p = 0.002). Progesterone receptor (p < 0.05) and estrogen receptor positive tumors were enriched in ATM c.7570G > C and CHEK2 c.1100delC carriers, whereas MCPH1 c.904_916del carriers had a significantly high percentage of multifocal tumors (38%, p = 0.001). Moreover, one FANCM c.5101C > T homozygote case suffered severe side effects from chemotherapy.ConclusionThe studied DDR gene variants were present in 9% of the unselected cases. As the presence of germline pathogenic variants can provide additional value for surgical decision-making and affect the choice of oncological treatments, the results promote the benefits of genetic testing as a part of breast cancer diagnostics.

01 May 2025·Histopathology

Threonine and tyrosine kinase (TTK) mRNA and protein expression in breast cancer; prognostic significance in the neoadjuvant setting

Article

Author: Bond, Jacquelyn ; Bell, Sandra M ; Awaji, Aeshah A ; Ashi, Abrar ; Shaaban, Abeer M ; Johnson, Colin A

AimsThreonine and tyrosine kinase (TTK) is up‐regulated in triple‐negative breast cancer (TNBC), yet its expression in patients undergoing neoadjuvant chemotherapy (NACT) remains unexplored. This investigation aims to assess TTK protein expression in treatment‐naïve pre‐treatment cores and paired pre‐ and post‐NACT breast cancer (BC) cohorts, as well as its correlation with microcephaly 1 (MCPH1) protein expression.Methods and resultsTranscriptomic data were sourced from the Gene Expression Omnibus microarray database for mRNA expression analysis. TTK protein expression was evaluated using immunohistochemistry staining, employing receiver operating characteristic curve analysis to determine an optimal TTK expression cut‐off point. The association between TTK expression, clinicopathological parameters and survival outcomes was examined. Additionally, MCPH1 protein expression was assessed in a pilot study. Analysis revealed a significantly elevated TTK mRNA expression in BC tissue compared to normal breast tissue, with high TTK mRNA levels predicting reduced overall survival. Notably, TTK protein expression increased significantly post‐NACT in a paired cohort. Conversely, decreased TTK protein expression pre‐NACT was correlated with improved overall survival.ConclusionsHigh TTK and low MCPH1 protein expression was significantly correlated, highlighting TTK's potential as a biomarker for BC and a therapeutic target for MCPH1‐deficient cancer cells.

01 Apr 2025·International Journal of Cancer

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers

Article

Author: Ambrozkiewicz, Filip ; Försti, Asta ; Hemminki, Kari ; Lubinski, Jan ; Marciniak, Magdalena

AbstractA double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to identify novel CRC susceptibility genes, we whole‐exome sequenced germline DNA from nine persons with a double primary CRC and a family history of CRC. The detected variants were processed by bioinformatics filtering and prioritization, including STRING protein–protein interaction and pathway analysis. A total of 150 missense, 19 stop‐gain, 22 frameshift and 13 canonical splice site variants fulfilled our filtering criteria. The STRING analysis identified 20 DNA repair/cell cycle proteins as the main cluster, related to genes CHEK2, EXO1, FAAP24, FANCI, MCPH1, POLL, PRC1, RECQL, RECQL5, RRM2, SHCBP1, SMC2, XRCC1, in addition to CDK18, ENDOV, ZW10 and the known mismatch repair genes. Another STRING network included extracellular matrix genes and TGFβ signaling genes. In the nine whole‐exome sequenced patients, eight harbored at least two candidate DNA repair/cell cycle/TGFβ signaling gene variants. The number of families is too small to provide evidence for individual variants but, considering the known role of DNA repair/cell cycle genes in CRC, the clustering of multiple deleterious variants in the present families suggests that these, perhaps jointly, contributed to CRC development in these families.

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MCPH1

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