New novel non-MHC genes were identified for cervical cancer with an integrative analysis approach of transcriptome-wide association study

Chen, Haimiao; Wang, Ting; Huang, Shuiping; Zeng, Ping

doi:10.7150/jca.47918

Cited by 8 publications

(7 citation statements)

References 62 publications

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“…These genes were mainly expressed at the HLA locus, however, four non-HLA genes were also identified. However, the tissues used in this study did not include cervical epithelial cells or cervical cancer lines, and these findings need further replication [159].…”

Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 96%

“…At present, the genes underlying cervical cancer GWAS signals are largely unknown, although prediction tools are established to prioritise genes by the use of established data on large-scale chromatin conformation or tissue-specific gene expression. A transcriptome-wide association study (TWAS) based on the GWA studies by Leo et al [66] and Takeuchi et al [119] identified 20 genes to be associated with cervical cancer in using transcriptome databases for six different tissues [159]. These genes were mainly expressed at the HLA locus, however, four non-HLA genes were also identified.…”

Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 99%

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Genomic Risk Factors for Cervical Cancer

Ramachandran

Dörk

2021

Cancers

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Cervical cancer is the fourth common cancer amongst women worldwide. Infection by high-risk human papilloma virus is necessary in most cases, but not sufficient to develop invasive cervical cancer. Despite a predicted genetic heritability in the range of other gynaecological cancers, only few genomic susceptibility loci have been identified thus far. Various case-control association studies have found corroborative evidence for several independent risk variants at the 6p21.3 locus (HLA), while many reports of associations with variants outside the HLA region remain to be validated in other cohorts. Here, we review cervical cancer susceptibility variants arising from recent genome-wide association studies and meta-analysis in large cohorts and propose 2q14 (PAX8), 17q12 (GSDMB), and 5p15.33 (CLPTM1L) as consistently replicated non-HLA cervical cancer susceptibility loci. We further discuss the available evidence for these loci, knowledge gaps, future perspectives, and the potential impact of these findings on precision medicine strategies to combat cervical cancer.

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Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 96%

Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 99%

Genomic Risk Factors for Cervical Cancer

Ramachandran

Dörk

2021

Cancers

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Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 96%

“…At present, the genes underlying cervical cancer GWAS signals are largely unknown, although prediction tools are established to prioritize genes by the use of established data on large-scale chromatin conformation or tissue-specific gene expression. A Transcriptome-wide association study (TWAS) based on the GWA studies by Leo et al [66], and Takeuchi et al [150], identified 20 genes to be associated with cervical cancer in using transcriptome databases for six different tissues [160]. These genes were mainly expressed at the HLA locus, however, four non-HLA genes were also identified.…”

Section: Follow-up Studies Of Cervical Cancer Gwas Resultsmentioning

confidence: 99%

Genomic Risk Factors for Cervical Cancer

Ramachandran¹,

Dörk²

2021

Preprint

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Cervical cancer is the fourth common cancer amongst women worldwide. Environmental factors such as smoking and obesity, and recurrent infection by high-risk human papillomavirus subtypes are known to promote progression towards invasive cervical disease. Infection by high-risk HPV is necessary in most cases but not sufficient to develop invasive cervical cancer. Despite a predicted genetic heritability of between 27-36%, known genetic susceptibility loci that may be tumorigenic or influence host response to infection, only account for a small fraction of heritable risk factors so far. Various biobank-driven population based studies and meta-analyses have found corroborative evidence for several risk variants at the 6p21.3 locus (HLA), while many reports of variants outside the HLA region remain to be validated in other cohorts. Here, we review cervical cancer susceptibility variants arising from recent genome-wide association studies and meta-analysis in large cohorts and propose 2q14 (PAX8), 17q12 (GSDMB), and 5p15.33 (CLPTM1L) as consistently replicated non-HLA cervical cancer susceptibility loci. We further discuss the available evidence for these loci, knowledge gaps, future perspectives, and the potential impact of these findings on precision medicine strategies to combat cervical cancer.

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“…In solid tumors, SLAMF7 has recently been shown to be expressed in colorectal cancer cells (35)(36)(37), ovarian and cervical cancers (38,39), as well as in liver cancer cell lines (40) and multiple murine cancer models (41). The promise of SLAMF7 as an immunotherapeutic target with possible clinical outcomes in patients with various types of tumors has rendered it the focus of several studies (as aforementioned).…”

Section: Strong Prognostic Value Of Slamf7 Protein Expression In Pati...mentioning

confidence: 99%

Strong prognostic value of SLAMF7 protein expression in patients with lymph node‑positive breast cancer

Assidi

2022

Oncol Lett

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Breast cancer (BC) in women is the second most commonly diagnosed type of cancer worldwide, and the leading cause of cancer-related mortality among women. To date, surgery is the main treatment option, often combined with other (neo)adjuvant therapeutic modalities to treat this malignancy and prevent relapse. Despite the invasive aspects of the majority of these therapeutic interventions and their associated side-effects, these treatments are still unable to effectively cure this disease and prevent relapse. Thus, there is an urgent need for the identification of more relevant biomarkers for more effective theranostics. Signaling lymphocytic activation molecule F7 (SLAMF7) is a glycosylated cell surface protein that plays a critical role in immune cell functions under both healthy conditions and in cancer. It is specifically targeted by elotuzumab for the treatment of multiple myeloma. The present retrospective study aimed to investigate the expression patterns of SLAMF7 and evaluate its associations with clinicopathological features, including the survival outcomes of patients with BC. The protein expression of SLAMF7 in BC was investigated in 278 lymph node-positive formalin-fixed and paraffin-embedded (FFPE) tissue blocks using tissue microarray and immunohistochemistry techniques. The results revealed a significant association between cytoplasmic SLAMF7 protein expression and several clinicopathological parameters, particularly age at diagnosis (P<0.007), tumor invasion (P<0.008) and vascular invasion (P= 0.05). Kaplan-Meier analysis revealed that the overexpression of SLAMF7 was a strong positive prognosticator of both disease-free and disease-specific survival in the patients with BC (log-rank P= 0.001 and P= 0.008, respectively). This suggests that patients with SLAMF7 protein expression have a higher survival rate and a lower recurrence rate. On the whole, the present study demonstrated that a weak or no SLAMF7 expression was a powerful prognosticator of poor survival outcomes associated with both tumor and vascular invasion. Therefore, elotuzumab (as SLAMF7monoclonal antibody therapy) may be a promising option for targeted therapy worthy of clinical testing in patients with BC.

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New novel non-MHC genes were identified for cervical cancer with an integrative analysis approach of transcriptome-wide association study

Cited by 8 publications

References 62 publications

Genomic Risk Factors for Cervical Cancer

Genomic Risk Factors for Cervical Cancer

Genomic Risk Factors for Cervical Cancer

Strong prognostic value of SLAMF7 protein expression in patients with lymph node‑positive breast cancer

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