Mutational Analysis of Key EGFR Pathway Genes in Chinese Breast Cancer Patients

Lin, Tong; Yang, Xu; Liu, Minfeng; Yao, Guangyu; Dong, Jianyu; Ye, Chang-Sheng; Li, Ming

doi:10.7314/apjcp.2012.13.11.5599

Cited by 19 publications

(14 citation statements)

References 35 publications

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“…A recent report also found the similar finding in breast cancer in where only 7.76% of patients showed codon 12 mutations in breast cancer and associated with Her-2 (Pereira et al, 2013). Even in Chinese population where they found only 2.5% which much lower than pancreatic and colorectal cancers (Tong et al, 2012).…”

Section: Discussionsupporting

confidence: 56%

High Frequency of Codon 12 but not Codon 13 and 61 K-ras Gene Mutations in Invasive Ductal Carcinoma of Breast in a South Indian Population

Sushma

Prasad²,

Devi³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: Ras genes are thought to play an important role in human cancer since they have been found to be activated frequently in several types of tumors including breast cancer, where the overall incidence of K-RAS oncogene activation is 0-10%. Evaluation of K-RAS gene not only for mutational frequency but also for mutation types in this downstream signaling gene pathway is necessary to determine the mechanisms of action. The present study was conducted to test the hypothesis that K-RAS activation is involved in breast cancer risk of south Indian population. Materials and Methods: A total of 70 paired pathologically confirmed tumor and non-tumor tissues from the same breast cancer patients were analysed for most common K-RAS mutations of codon 12,13 and 61 by polymerase chain reaction followed by restriction digestion and direct nucleotide sequencing method. Results: We found that a high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in this study. Conclusions: Our study indicated that only codon 12 may be involved in initiating breast carcinogenesis in India.

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Section: Discussionsupporting

confidence: 56%

High Frequency of Codon 12 but not Codon 13 and 61 K-ras Gene Mutations in Invasive Ductal Carcinoma of Breast in a South Indian Population

Sushma

Prasad²,

Devi³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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“…As previously reported, the mutation rates and spectra of TP53 and PIK3CA are quite different among different populations. For PIK3CA mutations in Chinese population, the mutation rates were 12.3% (7/57) reported by Wang and colleagues (23) and 7.5% (9/120) reported by Tong and colleagues (24). For TP53 mutations, the frequency of mutation reported by Hao and colleagues (25) was 22.7% (10/44), which was consistent with the results from Fukushima and colleagues (26), who reported 20.0% (10/50) of the tumors harboring TP53 mutations in the Japanese population.…”

Section: Discussionmentioning

confidence: 67%

Favorable Prognostic Impact in Loss of TP53 and PIK3CA Mutations after Neoadjuvant Chemotherapy in Breast Cancer

Jiang

Bao

et al. 2014

Cancer Research

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We investigated the loss of somatic mutations in TP53 and PIK3CA in breast cancer tissue after neoadjuvant chemotherapy (NCT) and the clinical relevance of the observed mutation profiles. Samples were derived from three cohorts: Cohort 1 consisting of 206 patients undergoing NCT with matched pre-and postchemotherapy tumor tissues; Cohort 2 consisting of 158 additional patients undergoing NCT; and Cohort 3, consisting of 81 patients undergoing chemotherapy with prechemotherapy tumor tissues. In the first cohort, somatic mutations in TP53 or PIK3CA were identified in 24.8% of the pre-NCT tumor samples but in only 12.1% of the post-NCT tumor samples (P < 0.001). Patients with initial TP53 and PIK3CA mutations who became negative for the mutations after NCT had a higher Miller-Payne score (P ¼ 0.008), improved disease-free survival, and improved overall survival than those with no change or the opposite change. The association of loss of mutations in TP53 and PIK3CA and improved survival was successfully validated in the second cohort. In addition, 28.4% of the tumors showed intratumoral heterogeneity of somatic mutations in TP53 or PIK3CA, whereas 71.6% were homogeneous, either with or without the mutations. Our data reveal the novel concept that chemotherapy may reduce mutation frequency in patients with breast cancer. Furthermore, the loss of somatic mutations in TP53 and PIK3CA may be translated to biomarkers for prognosis via further verification, which may optimize the choice of sequential therapy and improve patient survival. Cancer Res; 74(13); 3399-407. Ó2014 AACR.

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“…Studies that included small numbers of MC demonstrated that mutated PIK3CA, which is found in 16-33% of IDCs, is not a common finding in MC (0-13%), supplementary material, Figure S8 [125,[152][153][154][155][156][157]. Mutations of BRAF and KRAS are not common in breast cancer (0-3% and 2-5%) and associations with MC have not been studied [65,158,159]. Unlike in colorectal MC, MSI is a rare phenomenon in MC of the breast, occurring only sporadically (0-3%) [160][161][162][163][164][165].…”

Section: Mucinous Breast Carcinomamentioning

confidence: 99%

The molecular background of mucinous carcinoma beyond MUC2

Hugen

Simons²,

Halilović³

et al. 2014

Clin J Pathol

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The increasing interest of the oncology community in tumour classification and prediction of outcome to targeted therapies has put emphasis on an improved identification of tumour types. Colorectal mucinous adenocarcinoma (MC) is a subtype that is characterized by the presence of abundant extracellular mucin that comprises at least 50% of the tumour volume and is found in 10-15% of colorectal cancer patients. MC development is poorly understood, however, the distinct clinical and pathological presentation of MC suggests a deviant development and molecular background. In this review we identify common molecular and genetic alterations in colorectal MC. MC is characterized by a high rate of MUC2 expression. Mutation rates in the therapeutically important RAS/RAF/MAPK and PI3K/AKT pathways are significantly higher in MC compared with non-mucinous adenocarcinoma. Furthermore, mucinous adenocarcinoma shows higher rates of microsatellite instability and is more frequently of the CpG island methylator phenotype. Although the majority of MCs arise from the large intestine, this subtype also develops in other organs, such as the stomach, pancreas, biliary tract, ovary, breast and lung. We compared findings from colorectal MC with tumour characteristics of MCs from other organs. In these organs, MCs show different mutation rates in the RAS/RAF/MAPK and PI3K/ AKT pathways as well, but a common mucinous pathway cannot be identified. Identification of conditions and molecular aberrations that are associated with MC generates insight into the aetiology of this subtype and improves understanding of resistance to therapies.

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Mutational Analysis of Key EGFR Pathway Genes in Chinese Breast Cancer Patients

Cited by 19 publications

References 35 publications

High Frequency of Codon 12 but not Codon 13 and 61 K-ras Gene Mutations in Invasive Ductal Carcinoma of Breast in a South Indian Population

High Frequency of Codon 12 but not Codon 13 and 61 K-ras Gene Mutations in Invasive Ductal Carcinoma of Breast in a South Indian Population

Favorable Prognostic Impact in Loss of TP53 and PIK3CA Mutations after Neoadjuvant Chemotherapy in Breast Cancer

The molecular background of mucinous carcinoma beyond MUC2

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