High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

Garcia-Dios, Diego A.; Lambrechts, Diether; Coenegrachts, Lieve; Vandenput, Ingrid; Capoen, An; Webb, Penelope M.; Ferguson, Kaltin; Anecs,; Akslen, Lars A.; Claes, Bart; Vergote, Ignace; Moerman, Philippe; Robays, Johan Van; Marcickiewicz, Janusz; Salvesen, Helga B.; Spurdle, Amanda B.; Amant, Frédéric

doi:10.1016/j.ygyno.2012.11.037

Cited by 73 publications

(72 citation statements)

References 34 publications

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“…The genome copy-number low subgroup is MSI-negative and has a low frequency of DNA copy number abnormalities. The copy-number high subgroup has a TP53 gene mutation rate of >90%, and includes a number of patients with serous adenocarcinoma (Table I) (56)(57)(58).…”

Section: Genomic Analysis In Endometrial Cancermentioning

confidence: 99%

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Genome-wide analysis of gynecologic cancer: The Cancer Genome Atlas in ovarian and endometrial cancer

et al. 2017

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Section: Genomic Analysis In Endometrial Cancermentioning

confidence: 99%

“…Among uterine serous carcinoma, somatic mutations in TP53, PIK3CA and FBXW7 were identified (57). Gene amplification of CCNE1 was identified in 50% of cases (60).…”

Section: Genomic Analysis In Endometrial Cancermentioning

confidence: 99%

Genome-wide analysis of gynecologic cancer: The Cancer Genome Atlas in ovarian and endometrial cancer

et al. 2017

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“…carcinoma (EEC) shows, it seems that,the genetic alteration may act as a significant factor in development of cancer in different individuals Polymorphisms have different forms One of them is codon changes and the other is the changes in different types of protein synthesis (Garcia-Dios et al, 2013).…”

Section: 10393 the Polymorphism Of Hypoxia-inducible Factor-1a Gene mentioning

confidence: 99%

The Polymorphism of Hypoxia-inducible Factor-1a Gene in Endometrial Cancer

Kafshdooz¹,

Tabrizi²,

Mohaddes³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: Endometral carcinoma is the most common malignant tumor of the female genital tract and the fourth most common cancer in women after breast, colorectal and lung cancers Hypoxia-inducible factor -1 (HIF-1) is a key transcription factor that regulates cellular response to hypoxia HIF-1 plays important roles in the development and progression of cancer through activation of various genes that are involved in crucial aspects of cancer biology, including angiogenesis, energy metabolism, vasomotor function, erythropoiesis, and cell survival. In this study, we aimed to investigate the association between HIF-1 1772 C/T polymorphisms and endometrial cancer. Materials and Methods: 75 patients with endometrial carcinoma and 75 patients whose underwent hysterectomy for non tumoral indication selected for evaluation of HIF-1 1772 C/T polymorphisms by PCR-RFLP and sequencing. Results: For the 1772 C/T polymorphism, the analysis showed that the T allele and genotype TT were significantly associated with endometrial cancer risk. Conclusions: Our results suggest that the C1772T polymorphism of the HIF-1a may be associated with endometrial cancers.

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“…The ability to identify patients with excellent prognosis who may not require chemotherapy or radiotherapy would conserve resources, but, more importantly, would spare these women from overtreatment and unnecessary toxic side effects. Last, we updated the survival metaanalysis (11) of POLE-mutated endometrial carcinomas to include results from eight different studies (6,(10)(11)(12)(24)(25)(26)(27) including our own results. The overall findings significantly strengthen the growing body of evidence that POLE mutations are highly favorable prognostic markers in endometrial carcinomas, and will change how we manage women with this disease.…”

Section: Introductionmentioning

confidence: 99%

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis

McConechy

Talhouk

Leung

et al. 2016

Clinical Cancer Research

161

119

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Purpose: The aim of this study was to confirm the prognostic significance of POLE exonuclease domain mutations (EDM) in endometrial carcinoma patients. In addition, the effect of treatment on POLE-mutated tumors was assessed.Experimental Design: A retrospective patient cohort of 496 endometrial carcinoma patients was identified for targeted sequencing of the POLE exonuclease domain, yielding 406 evaluable tumors. Univariable and multivariable analyses were performed to determine the effect of POLE mutation status on progression-free survival (PFS), disease-specific survival (DSS), and overall survival (OS). Combining results from eight studies in a meta-analysis, we computed pooled HR for PFS, DSS, and OS.Results: POLE EDMs were identified in 39 of 406 (9.6%) endometrial carcinomas. Women with POLE-mutated endometrial carcinomas were younger, with stage I (92%) tumors, grade 3 (62%), endometrioid histology (82%), and frequent (49%) lymphovascular invasion. In univariable analysis, POLE-mutated endometrial carcinomas had significantly improved outcomes compared with patients with no EDMs for PFS, DSS, and OS. In multivariable analysis, POLE EDMs were only significantly associated with improved PFS. The effect of adjuvant treatment on POLE-mutated cases could not be determined conclusively; however, both treated and untreated patients with POLE EDMs had good outcomes. Meta-analysis revealed an association between POLE EDMs and improved PFS and DSS with pooled HRs 0.34 [95% confidence interval (CI), 0.15-0.73] and 0.35 (95% CI, 0.13-0.92), respectively.Conclusions: POLE EDMs are prognostic markers associated with excellent outcomes for endometrial carcinoma patients. Further investigation is needed to conclusively determine if treatment is necessary for this group of women.

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High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

Cited by 73 publications

References 34 publications

Genome-wide analysis of gynecologic cancer: The Cancer Genome Atlas in ovarian and endometrial cancer

Genome-wide analysis of gynecologic cancer: The Cancer Genome Atlas in ovarian and endometrial cancer

The Polymorphism of Hypoxia-inducible Factor-1a Gene in Endometrial Cancer

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis

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