Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers

Yang, Xinhua; Xu, Baoshan; Zhou, Da‐Lei; Long, Ya-Kang; Liu, Qing; Huang, Chan; Ye, Zu‐Lu; He, Caiyun

doi:10.1016/j.gene.2021.146157

Cited by 5 publications

(6 citation statements)

References 16 publications

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“…To our knowledge, this is the first report about linkage disequilibrium (LD) between the variants rs357564‐rs2236405 in BCC patients. There are few reports where the rs2236405 is in LD with other PTCH1 variants, providing a decreased risk in patients with reproductive cancers 25 . While haplotype analysis of the rs357564 variant was associated with an increased BCC risk in patients with previous transplants 20 .…”

Section: Discussionmentioning

confidence: 99%

“…However, the rs2297086 and rs41313327 have been studied in BCC, 20,24 and the rs2236405 in reproductive cancers and congenital diseases. 25,26 Previous studies about PTCH1 mRNA and protein expression have reported wide differences in expression levels among diverse types of cancer and tissues. This study aimed to analyze the possible association between PTCH1 gene variants (rs357564, rs2236405, rs2297086, and rs41313327), mRNA, and protein expression in patients with basal cell carcinoma from western Mexico.…”

Section: Introductionmentioning

confidence: 99%

“…For the rs2297086, rs2236405, and rs41313327 few reports have been published. However, the rs2297086 and rs41313327 have been studied in BCC, 20,24 and the rs2236405 in reproductive cancers and congenital diseases 25,26 …”

Section: Introductionmentioning

confidence: 99%

“…However, the rs2297086 and rs41313327 have been studied in BCC, 20 , 24 and the rs2236405 in reproductive cancers and congenital diseases. 25 , 26 …”

Section: Introductionmentioning

confidence: 99%

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PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

Zambrano‐Román,

Padilla‐Gutiérrez,

Valle

et al. 2024

Clinical Laboratory Analysis

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BackgroundBasal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in PTCH1 gene have been previously described in association with BCC development. In addition, PTCH1 mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.MethodsAn analytical cross‐sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin‐embedded samples with PTCH1 antibodies. Semi‐quantitative analysis was performed to determine the expression level in the immunostained cells.ResultsWe did not find evidence of an association between PTCH1 rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (p > 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic‐clinical characteristics (p > 0.05).ConclusionThe studied PTCH1 variants may not be associated with BCC development in the Western Mexico population. The PTCH1 mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…However, the rs2297086 and rs41313327 have been studied in BCC, 20 , 24 and the rs2236405 in reproductive cancers and congenital diseases. 25 , 26 …”

Section: Introductionmentioning

confidence: 99%

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PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

Zambrano‐Román,

Padilla‐Gutiérrez,

Valle

et al. 2024

Clinical Laboratory Analysis

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“…The PTCH1 variants rs357564 and rs2236405 have been analyzed in other types of cancer and congenital diseases, and their relevance may be associated with their location in the protein structure and its interaction with the Smoothened protein. In contrast, the rs2297086 variant has been studied in patients with non-melanoma skin cancer post transplant, while the importance of the rs41313327 variant may stem from its location within one of the extracellular loops critical for receptor–ligand interaction [ 19 , 20 , 21 , 22 , 23 ]. This study aimed to analyze the distribution of the allele and genotype frequencies among Mexican patients with cSCC, as well as the expression of their mRNA, and the possible biological, splicing, and expression effects through bioinformatics tools.…”

Section: Introductionmentioning

confidence: 99%

PTCH1 Gene Variants, mRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients

Zambrano-Román,

Padilla-Gutiérrez,

Valle

et al. 2024

Biology

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Background: Skin cancer is one of the most frequent types of cancer, and cutaneous squamous cell carcinoma (cSCC) constitutes 20% of non-melanoma skin cancer (NMSC) cases. PTCH1, a tumor suppressor gene involved in the Sonic hedgehog signaling pathway, plays a crucial role in neoplastic processes. Methods: An analytical cross-sectional study, encompassing 211 cSCC patients and 290 individuals in a control group (CG), was performed. A subgroup of samples was considered for the relative expression analysis, and the results were obtained using quantitative real-time PCR (qPCR) with TaqMan® probes. The functional, splicing, and disease-causing effects of the proposed variants were explored via bioinformatics. Results: cSCC was predominant in men, especially in sun-exposed areas such as the head and neck. No statistically significant differences were found regarding the rs357564, rs2236405, rs2297086, and rs41313327 variants of PTCH1, or in the risk of cSCC, nor in the mRNA expression between the cSCC group and CG. A functional effect of rs357564 and a disease-causing relation to rs41313327 was identified. Conclusion: The proposed variants were not associated with cSCC risk in this Mexican population, but we recognize the need for analyzing larger population groups to elucidate the disease-causing role of rare variants.

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Basal cell carcinosarcoma: a systematic review and reappraisal of its challenges and the role of Mohs surgery

Born

Khachemoune

2023

Arch Dermatol Res

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Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers

Cited by 5 publications

References 16 publications

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

PTCH1 Gene Variants, mRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients

Basal cell carcinosarcoma: a systematic review and reappraisal of its challenges and the role of Mohs surgery

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