Prognostic and Therapeutic Potential Implications of Genetic Variability in Prostaglandin E2 Pathway Genes in Rectal Cancer

Santos, Marisa D.; Silva, Cristina; Rocha, Anabela; Nogueira, Cláudia; Castro-Poças, Fernando; Araújo, António; Matos, Eduarda; Pereira, Carina; Medeiros, Rui; Lopes, Carlos

doi:10.21873/anticanres.11319

Cited by 2 publications

(1 citation statement)

References 33 publications

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“…In rectal cancer, association between resistance to CRT and ABCC3 was revealed by using patients' samples and in vitro experiment (23). Immunohistochemical expression of ABCC4 was found associated with resistance of rectal cancer to CRT and single nucleotide polymorphism of ABCC4 also showed association with response to CRT in rectal cancer (24,25).…”

Section: Discussionmentioning

confidence: 99%

Expression of ATP transporters is associated with histologic regression of rectal carcinoma after neoadjuvant chemoradiotherapy

Kim¹,

Kim

et al. 2018

Transl. Cancer Res

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Background: Preoperative chemoradiotherapy (CRT) has been established as a treatment of choice for locally advanced rectal cancer. However, the responses to CRT range very widely and there is no specific molecular marker definitively proven to be predictive of responses to CRT. We aimed to investigate the relationship between the expression of ATP-binding cassette (ABC) transporters and cancer stem cell (CSC) markers in pretreatment biopsy samples and pathological response to CRT in rectal cancer. Methods:The immunohistochemical expression of three ABC transporters (ABCG2, ABCC2, and ABCC3) and two CSC markers (SOX2 and LGR5) was determined in 76 biopsy specimens from rectal cancer patients who underwent preoperative CRT. The association between protein expression and pathologic tumor regression grade was statistically analyzed.Results: Fifty-eight (76.3%) cases were classified as chemoradio-resistant group and 18 (23.7%) cases as chemoradio-sensitive group and pathological complete remission was found in 8 (10.5%) cases. ABCG2 was frequently expressed in chemoradio-sensitive group (P=0.042), while expression of ABCC2 was found in chemoradio-resistant group (P=0.014). Low expression of ABCC2 was associated with pathologic complete remission (P=0.008).Conclusions: Immunohistochemical expression of ABCC2 and ABCG2 was associated with tumor regression after preoperative CRT in rectal cancer. In particular, ABCC2 was associated with resistance to CRT of rectal cancer. These markers might be used as biomarkers for predicting response against CRT in rectal cancer.

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Section: Discussionmentioning

confidence: 99%

Expression of ATP transporters is associated with histologic regression of rectal carcinoma after neoadjuvant chemoradiotherapy

Kim¹,

Kim

et al. 2018

Transl. Cancer Res

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Identification of Genetic Factors Related With Nonhereditary Colorectal Polyposis and Its Recurrence Through Genome‐Wide Association Study

Ji,

Lee,

Jeon

et al. 2024

J of Gastro and Hepatol

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BackgroundMany patients with colorectal polyposis demonstrate negative results in germline mutation test. This study aimed to uncover genetic variants associated with nonhereditary colorectal polyposis using a genome‐wide association study (GWAS).MethodsAt a single referral university hospital, between January 2012 and September 2021, 638 patients with ≥ 10 biopsy‐proven cumulative polyps on colonoscopy without germline mutations related to hereditary colorectal cancer or polyposis were included. The control group comprised 1863 individuals from the Korea Medical Institute, each having undergone at least two colonoscopies, all of which were normal. This study utilized GWAS to identify susceptibility loci for nonhereditary colorectal polyposis. Genetic differences between patients with and without ≥ 10 polyp recurrences were analyzed using Cox proportional hazards models.ResultsGWAS revealed 71 novel risk single‐nucleotide polymorphisms (SNPs) not seen in previous colorectal cancer and polyp GWAS. Five genes (UPF3A, BICRA, CBWD6, PDE4DIP, and ABCC4) overlapping seven SNPs (rs566295755, rs2770288, rs1012003, rs201270202, rs71264659, rs1699813, and rs149368557), previously linked to colorectal cancer, were identified as significant risk factors for nonhereditary colorectal polyposis. Two novel genes (CNTN4 and CNTNAP3B), not previously associated with colorectal diseases, were identified. Three SNPs (rs149368557, rs12438834, and rs9707935) were significantly associated with higher risk of recurrence of polyposis. The gene overlapping with rs149368557 was ABCC4, which was also significantly associated with an increased risk of nonhereditary colorectal polyposis.ConclusionThis study identified 71 novel risk variants for nonhereditary colorectal polyposis, with three SNPs (rs149368557, rs12438834, and rs9707935) indicating significant associations with increased risk of polyposis recurrence.

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Prognostic and Therapeutic Potential Implications of Genetic Variability in Prostaglandin E2 Pathway Genes in Rectal Cancer

Cited by 2 publications

References 33 publications

Expression of ATP transporters is associated with histologic regression of rectal carcinoma after neoadjuvant chemoradiotherapy

Expression of ATP transporters is associated with histologic regression of rectal carcinoma after neoadjuvant chemoradiotherapy

Identification of Genetic Factors Related With Nonhereditary Colorectal Polyposis and Its Recurrence Through Genome‐Wide Association Study

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