Spectrum of PIK3CA/AKT mutations across molecular subtypes of triple-negative breast cancer
| العنوان: | Spectrum of PIK3CA/AKT mutations across molecular subtypes of triple-negative breast cancer |
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| المؤلفون: | Ishita Loriya, Amanjit Bal, Siddhant Khare, Ashim Das, Shalmoli Bhattacharya, Gurpreet Singh, Sandeep Kumar |
| المصدر: | Breast Cancer Research and Treatment. 187:625-633 |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Class I Phosphatidylinositol 3-Kinases, medicine.medical_treatment, Breast Neoplasms, Triple Negative Breast Neoplasms, medicine.disease_cause, Targeted therapy, 03 medical and health sciences, Exon, Basal (phylogenetics), symbols.namesake, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Humans, Triple-negative breast cancer, Sanger sequencing, Mutation, business.industry, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Immunohistochemistry, Female, Neoplasm Recurrence, Local, business, Proto-Oncogene Proteins c-akt |
| الوصف: | The heterogeneity of triple-negative breast cancer (TNBC) confers variable response to chemotherapy that results in poor outcome and relapse. Due to lack of targeted therapy, there is a need to provide molecular classification of TNBC and identify probable therapeutic targets. We classified TNBC into surrogate molecular subtypes by immunohistochemistry and evaluated hotspot mutations (N = 80) in PIK3CA (exon 4, 9, and 20) and AKT1 (exon 2) in TNBC subtypes by Sanger sequencing. TNBCs were classified into Basal-like 1(BL1) (n = 20, 25%), Mesenchymal (n = 19, 23.75%), Luminal Androgen (LAR) (n = 12, 15%), Basal+Mesenchymal (Mixed type) (n = 10, 12.5%), and unclassified subtype (n = 19, 23.75%). PIK3CA mutations were observed in 16.25% (13/80) TNBC cases. PIK3CA mutations were more frequent in exon 20 (8.7%) than in exon 9 (5%) and exon 4 (2.5%). PIK3CA mutations were frequent in LAR subtype (33.3%) followed by unclassified type (31.5%), Mesenchymal (10.5%), and BL1 (5%) subtypes. Two hotspot mutations were found in AKT1 (T21I, E17K) in mixed and unclassified subtype. This study highlights the heterogeneity within TNBCs. Higher frequencies of PIK3CA mutations were noted in LAR subtypes and unclassified type, comparable to their incidence reported in literature in ER-positive tumors. The mutation status can be used as potential biomarker for PI3K inhibitors in TNBC subgroups. |
| تدمد: | 1573-7217 0167-6806 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42a4b2f6948d8dc83452d2cdb11036cTest https://doi.org/10.1007/s10549-021-06242-3Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....c42a4b2f6948d8dc83452d2cdb11036c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737217 01676806 |
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