Exploring the prognostic significance of PKCε variants in cervical cancer

Zafar, Sameen; Khan, Khushbukhat; Badshah, Yasmin; Shahid, Kanza; Trembley, Janeen H.; Hafeez, Amna; Ashraf, Naeem Mahmood; Arslan, Hamid; Shabbir, Maria; Afsar, Tayyaba; Almajwal, Ali; Razak, Suhail

doi:10.1186/s12885-023-11236-z

Cited by 3 publications

(1 citation statement)

References 88 publications

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“…After publication of this article [ 1 ], the authors reported that in this article the author name ‘Suhail Razak’ was incorrectly written as ‘F. Suhail Razak’.…”

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confidence: 99%

Correction: Exploring the prognostic significance of PKCε variants in cervical cancer

Zafar,

Khan,

Badshah

et al. 2023

BMC Cancer

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“…After publication of this article [ 1 ], the authors reported that in this article the author name ‘Suhail Razak’ was incorrectly written as ‘F. Suhail Razak’.…”

mentioning

confidence: 99%

Correction: Exploring the prognostic significance of PKCε variants in cervical cancer

Zafar,

Khan,

Badshah

et al. 2023

BMC Cancer

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Pathogenic nsSNPs of protein kinase C-eta with hepatocellular carcinoma susceptibility

Hussain,

Badshah,

Shabbir

et al. 2024

Cancer Cell Int

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Background Hepatocellular carcinoma (HCC) is a global health concern. Due to late diagnosis and limited therapeutic strategies, HCC based mortality rate is exponentially increasing globally. Genetic predisposition is a non-avoidable intrinsic factor that could alter the genome sequence, ultimately leading to HCC. Protein kinase C eta (PKCη) is involved in key physiological roles, hence alteration in PKCη could aid in cancer progression. Research indicates association between non-synonymous (ns) SNPs and HCC onset. However, effect of nsSNP variants of PKCη on HCC development has not been explored yet. Hence, this study aimed to investigate the association between pathogenic nsSNPs of PKCη with HCC. Methods Non-synonymous (missense) variants of PKCη were obtained from Ensembl genome browser. These variants were filtered out to obtain pathogenic nsSNPs of PKCη. Genotyping of nsSNPs was done through Tetra ARMS PCR. For that, blood samples of 348 HCC patients and 337 controls were collected. The clinical factors that influence HCC were studied. Relative risk (RR) and Odds Ratio (OR) with 95% confidence interval was calculated by Chi-square test and P-value < 0.05 was deemed significant. Results Five nsSNP variants of PKCη including rs1162102190 (T/C), rs868127012 (G/T), rs750830348 (G/T), rs768619375 (T/C), and rs752329416 (T/C) were identified. The retrieved nsSNPs were frequently identified in HCC patients. However, rs752329416 T/C was significantly prevalent in patients having HCC family history. Moreover, all the variants were found in HCC patients manifesting the stage II than the advance stages of HCC. Conclusion This study can be utilized to identify potential genetic markers for early screening of HCC. Moreover, consideration of further clinical factors, and mechanistic approach would enhance the understanding that how alteration in nsSNPs could impact the HCC onset. Supplementary Information The online version contains supplementary material available at 10.1186/s12935-024-03536-6.

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Does a common genetic event exist for familial thyroid cancer? Results from a large family with FNMTC

Silvia,

Margherita,

Carlotta

et al. 2024

Preprint

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Background Despite several efforts, the genetic susceptibility of familial non medullary thyroid cancer (FNMTC), has remained still elusive. Methods We performed Whole Exome Sequencing (WES) in a large family with 9 available members, 6/9 (67%) affected by FNMTC. Results We found two missense variants, with CADD score > 20: the c.C1519A (p.Pro507Thr, rs773271544) in PRKCɛ gene and the c.G1019A (p.R340Q) in CCZ1B gene. These alterations were absent in healthy subjects (n = 40) and in 30 sporadic thyroid cancer patients. The p.P507T was possibly pathogenetic by SIFT and PRKCɛ is implicated with MAPK activation by STRING. When we searched for this mutation in other families, we failed to confirm this genetic event as causative of cancer in other 20 FNMTC patients belonging to 8 kindred. Conclusions We concluded that the PRKCɛ p.Pro507Thr possibly represents a private mutation even if other studies including large FNMTC family are needed to define the percentage of familial thyroid cancer cases due this alteration.

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Exploring the prognostic significance of PKCε variants in cervical cancer

Cited by 3 publications

References 88 publications

Correction: Exploring the prognostic significance of PKCε variants in cervical cancer

Correction: Exploring the prognostic significance of PKCε variants in cervical cancer

Pathogenic nsSNPs of protein kinase C-eta with hepatocellular carcinoma susceptibility

Does a common genetic event exist for familial thyroid cancer? Results from a large family with FNMTC

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