Cyclin D1 G870A Polymorphism: Relation to the Risk of ALL Development, Prognosis Impact, and Methotrexate Cytotoxicity

Menshawy, Nadia El; Marghany, Ahmed B El; Sarhan, Moustafa; Aladle, Doaa A.

doi:10.31557/apjcp.2020.21.10.2941

Cited by 5 publications

(6 citation statements)

References 19 publications

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“…In 2020, El Menshawy et al collected 100 individuals from Egypt (50 ALL cases and 50 controls) and investigated the contribution of CCND1 rs9344 genotype to methotrexate cytotoxicity, and survival rates. They found that the AA genotype was associated with a higher risk of developing ALL compared to the control group; no notable association was found between CCND1 genotypes, methotrexate hepatotoxicity and ALL survival rates (41). The metaanalysis of the publications of Howe, Hou, and Bedewy, found a significant association between the CCND1 rs9344 genotype and leukemia (42).…”

Section: Discussionmentioning

confidence: 99%

Significant Association ofCCND1Genotypes With Susceptibility to Childhood Acute Lymphoblastic Leukemia

et al. 2021

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Background/Aim: This study investigated whether genetic variations in cyclin D1 (CCND1) are associated with susceptibility to childhood acute lymphoblastic leukemia (ALL). Materials and Methods: A total of 266 childhood ALL cases and 266 healthy controls were genotyped for CCND1 rs9344 and rs678653. Results: There was a significant difference in the genotypic distribution of rs9344 between childhood ALL patients and healthy controls (p=0.0077). Compared to the AA genotype, AG and GG genotypes were associated with significantly decreased risks of childhood ALL with odds ratio (OR) of 0.65 [95% confidence interval (CI)=0. p=0.0040), respectively. Supporting this, allelic frequency distributions between childhood ALL patients and controls was significantly different (OR=0.68, p=0.0025). There was no significant difference in the genotypic and allelic distributions of rs678653 between cases and controls. Conclusion: CCND1 rs9344, but not rs678653, may serve as a predictive marker of susceptibility for childhood ALL.

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Section: Discussionmentioning

confidence: 99%

Significant Association ofCCND1Genotypes With Susceptibility to Childhood Acute Lymphoblastic Leukemia

et al. 2021

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“…According to The cBioPortal for Cancer Genomics database analysis of samples with mutation data in pan-cancer (TCGA PanCancer Atlas Studies), the mutation frequency of CCND1 in patient is 6% [81,82]. Plenty of studies have shown that the G870A mutation is the most common splice mutation in CCND1, and is associated with the risk, prognosis, and treatment of multiple cancers [20,22,23]. The G870A mutation has been determined to be related to the risk of a variety of cancers such as breast cancer [83], liver cancer [84], colorectal cancer [85], bladder cancer [86], endometrial cancer [87], esophageal and gastric cardiac cancer [88].…”

Section: Mutation Of Ccnd1 Genementioning

confidence: 99%

“…The amplification and/or overexpression of CCND1 have frequently been found in a variety of cancers [3][4][5][6][7][8][9][10][11][12][13][14]. There are a large number of mutations in CCND1, which are closely related to the occurrence, development, prognosis, and treatment of cancers [15][16][17][18][19][20][21]. There are four major mutation types of CCND1, including missense mutation, truncating mutation, inframe mutation, and splice mutation [15].…”

Section: Introductionmentioning

confidence: 99%

“…There are four major mutation types of CCND1, including missense mutation, truncating mutation, inframe mutation, and splice mutation [15]. The G870A mutation is the most common splice mutation in CCND1, and is associated with the risk, prognosis, and treatment of multiple cancers [20,22,23]. The conventional CCND1 consists of five distinct exons and has been studied extensively [24].…”

Section: Introductionmentioning

confidence: 99%

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Aberrant Cyclin D1 splicing in cancer: from molecular mechanism to therapeutic modulation

Wang

Zhang

et al. 2023

Cell Death Dis

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Cyclin D1 (CCND1), a crucial mediator of cell cycle progression, possesses many mutation types with different mutation frequencies in human cancers. The G870A mutation is the most common mutation in CCND1, which produces two isoforms: full-length CCND1a and divergent C-terminal CCND1b. The dysregulation of the CCND1 isoforms is associated with multiple human cancers. Exploring the molecular mechanism of CCND1 isoforms has offer new insight for cancer treatment. On this basis, the alterations of CCND1 gene are described, including amplification, overexpression, and mutation, especially the G870A mutation. Subsequently, we review the characteristics of CCND1 isoforms caused by G870A mutation. Additionally, we summarize cis-regulatory elements, trans-acting factors, and the splice mutation involved in splicing regulation of CCND1. Furthermore, we highlight the function of CCND1 isoforms in cell cycle, invasion, and metastasis in cancers. Importantly, the clinical role of CCND1 isoforms is also discussed, particularly concerning prognosis, chemotherapy, and radiotherapy. Last, emphasis is given to the corrective strategies that modulate the cancerous CCND1 isoforms. Thus, it is highlighting significance of aberrant isoforms of CCND1 as targets for cancer therapy.

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“…Research has shown that alterations in CCND1 gene expression, including overexpression, underexpression, and variants, are associated with the development and poor prognosis of CRC ( 58 – 60 ), particularly the G870A mutation ( 60 ). This mutation is the most common splice mutation in CCND1 ( 61 , 62 ) and results in the generation of two CCND1 isoforms through alternative splicing: full-length CCND1a and divergent C-terminal CCND1b ( 63 , 64 ). It is widely accepted that an imbalanced CCND1a/b ratio or high expression of CCND1b is closely linked to the development of cancer.…”

Section: Tumor-associated Splicing Variants In Crc: From Roles To Pot...mentioning

confidence: 99%

Targeted splicing therapy: new strategies for colorectal cancer

Zheng,

Zhong,

et al. 2023

Front. Oncol.

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RNA splicing is the process of forming mature mRNA, which is an essential phase necessary for gene expression and controls many aspects of cell proliferation, survival, and differentiation. Abnormal gene-splicing events are closely related to the development of tumors, and the generation of oncogenic isoform in splicing can promote tumor progression. As a main process of tumor-specific splicing variants, alternative splicing (AS) can promote tumor progression by increasing the production of oncogenic splicing isoforms and/or reducing the production of normal splicing isoforms. This is the focus of current research on the regulation of aberrant tumor splicing. So far, AS has been found to be associated with various aspects of tumor biology, including cell proliferation and invasion, resistance to apoptosis, and sensitivity to different chemotherapeutic drugs. This article will review the abnormal splicing events in colorectal cancer (CRC), especially the tumor-associated splicing variants arising from AS, aiming to offer an insight into CRC-targeted splicing therapy.

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Cyclin D1 G870A Polymorphism: Relation to the Risk of ALL Development, Prognosis Impact, and Methotrexate Cytotoxicity

Cited by 5 publications

References 19 publications

Significant Association ofCCND1Genotypes With Susceptibility to Childhood Acute Lymphoblastic Leukemia

Significant Association ofCCND1Genotypes With Susceptibility to Childhood Acute Lymphoblastic Leukemia

Aberrant Cyclin D1 splicing in cancer: from molecular mechanism to therapeutic modulation

Targeted splicing therapy: new strategies for colorectal cancer

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