A PIK3CA mutation detected in plasma from a patient with synchronous primary breast and lung cancers

Jelovac, Danijela; Beaver, Julia A.; Balukrishna, Sasidharan; Wong, Hong Yuen; Toro, Patricia Valda; Cimino‐Mathews, Ashley; Argani, Pedram; Stearns, Vered; Jacobs, Lisa K.; VanDenBerg, Dustin A.; Kessler, Jill; Jeter, Stacie C.; Park, Ben Ho; Wolff, Antonio C.

doi:10.1016/j.humpath.2013.10.016

Cited by 14 publications

(9 citation statements)

References 12 publications

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“…Multiple studies have found that recurrent mutations of some cancer-related genes detected in ctDNA of plasma through ddPCR technology were promising biomarkers for early diagnosis and prognosis. 24,[34][35][36][37][38][39] Accordingly, we collected plasma of HCC patients with or without hepatic resection to detect R249S mutation in ctDNA by ddPCR. Intriguingly, we found that the presence of R249S in ctDNA was significantly associated with poor HCC prognosis, both in patients with and without surgical resection, which was consistent with the result discovered in tissue specimens.…”

Section: Tp53 R249s Mutation In Ctdna and Hcc Prognosis (Cohorts 2 mentioning

confidence: 99%

TP53 R249S mutation detected in circulating tumour DNA is associated with Prognosis of hepatocellular carcinoma patients with or without hepatectomy

Shen¹,

Li²,

Wang³

et al. 2020

Liver International

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Background and Aims: Somatic mutation R249S in TP53 is highly common in hepatocellular carcinoma (HCC). We aim to investigate the effects of R249S in ctDNA on the prognosis of HCC. Methods: We analysed three cohorts including 895 HCC patients. TP53 mutation spectrum was examined by direct sequencing of genomic DNA from tissue specimens in HCC patients with hepatectomy (Cohort 1, N = 260). R249S and other recurrent missense mutations were assessed for their biological functions and associations with overall survival (OS) and progression-free survival (PFS) of HCC patients in Cohort 1. R249S within circulating tumour DNA (ctDNA) was detected through droplet digital polymerase chain reaction (ddPCR) and its association with OS and PRS was analysed in HCC patients with (Cohort 2, N = 275) or without (Cohort 3, N = 360) hepatectomy. Results: In Cohort 1, R249S occupied 60.28% of all TP53 mutations. Overexpression of R249S induced more serious malignant phenotypes than those of the other three identified TP53 recurrent missense mutations. Additionally, R249S, but not other missense mutations, was significantly associated with worse OS (P = .006

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Section: Tp53 R249s Mutation In Ctdna and Hcc Prognosis (Cohorts 2 mentioning

confidence: 99%

TP53 R249S mutation detected in circulating tumour DNA is associated with Prognosis of hepatocellular carcinoma patients with or without hepatectomy

Shen¹,

Li²,

Wang³

et al. 2020

Liver International

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“…Alteration in genotype may aff ect the response of patient to chemotherapy and may show a wide range of resistance [28]. Genetic variations in the PI3K-PTEN-AKT-mTOR pathway aff ect clinical outcomes in patients treated with certain types of drugs [17,29].…”

Section: Discussionmentioning

confidence: 99%

PIK3CA rs7640662 (C/G) single nucleotide polymorphism lacks association with breast cancer cases in Persians

Mir¹,

Harati‐Sadegh²,

Ahmadinia³

et al. 2015

Interventional Medicine and Applied Science

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Phosphatidylinositol-3-kinase (PI3K) is a group of enzymes involved in cellular growth, proliferation, diff erentiation, cell motility, intracellular traffi cking, and survival that play very important roles in developing breast cancer. PIK3CA is a gene that encodes α catalytic subunit of this enzyme. A common polymorphism of PIK3CA, rs7640662 (C/G), was analyzed, and its association to breast cancer cases was determined. In this study, DNA was extracted from peripheral blood samples of 278 women suff ering from breast cancer and 128 healthy women. Tetra-primer amplifi cation refractory mutation system polymerase chain reaction (T-ARMS-PCR) method was performed to genotype rs7640662. P values and ODD ratios were measured using SPSS. P value less than 0.05 and ODD ratios more than 1 were considered as signifi cant. All ODD ratios were less than 1, and P values were more than 0.05 showing that rs7640662 (C/G) and breast cancer are not signifi cantly associated. However, the genotypes observed in the Persian population, as an ancient population living in the Middle East, was signifi cantly diff erent from the genotypes reported by HapMap for Asian populations. As a conclusion, rs7640662 was not associated with the risk of breast cancer in a Persian population; however, it was observed that heterozygote (GC) is the most common genotypes in both case and control samples.

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“…BEAMing (Beads, Emulsion, Amplification and Magnetics) uses emulsion PCR technology to separately amplify individual molecules and then quantify specific variants using flow cytometry. It detects somatic mutations found in ctDNA with high sensitivity (1:5000 to 1:10,000 mutants per wild type molecule) [44,45]. Using BEAMing, Higgins et al have identified mutations in the PIK3CA gene from ctDNA which were 100% concordant with tumor biopsies [46].…”

Section: Methods For Measuring Ctdnamentioning

confidence: 99%

Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker

Rohanizadegan

2018

Cancer Genetics

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Despite all the advances in diagnosis and treatment of breast cancer, a large number of patients suffer from late diagnosis or recurrence of their disease. Current available imaging modalities do not reveal micrometastasis and tumor biopsy is an invasive method to detect early stage or recurrent cancer, signifying the need for an inexpensive, non-invasive diagnostic modality. Cell-free tumor DNA (ctDNA) has been tried for early detection and targeted therapy of breast cancer, but its diagnostic and prognostic utility is still under investigation. This review summarizes the existing evidence on the use of ctDNA specifically in breast cancer, including detection methods, diagnostic accuracy, role in genetics and epigenetics evaluation of the tumor, and comparison with other biomarkers. Current evidence suggests that increasing levels of ctDNA in breast cancer can be of significant diagnostic value for early detection of breast cancer although the sensitivity and specificity of the methods is still suboptimal. Additionally, ctDNA allows for characterizing the tumor in a non-invasive way and monitor the response to therapy, although discordance of ctDNA results with direct biopsy (i.e. due to tumor heterogeneity) is still considered a notable limitation.

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A PIK3CA mutation detected in plasma from a patient with synchronous primary breast and lung cancers

Cited by 14 publications

References 12 publications

TP53 R249S mutation detected in circulating tumour DNA is associated with Prognosis of hepatocellular carcinoma patients with or without hepatectomy

TP53 R249S mutation detected in circulating tumour DNA is associated with Prognosis of hepatocellular carcinoma patients with or without hepatectomy

PIK3CA rs7640662 (C/G) single nucleotide polymorphism lacks association with breast cancer cases in Persians

Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker

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