PIK3CA mutations in breast cancer: A Tunisian series

Rekaya, Mariem Ben; Sassi, Farah; Saied, El; Kacem, Linda Bel Haj; Mansouri, Nada; Zarrouk‐Mahjoub, Sinda; Azouz, Saifeddine; Rammeh, Soumaya

doi:10.1371/journal.pone.0285413

Cited by 2 publications

(2 citation statements)

References 54 publications

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“…E542K and E545K on exon 9, encoding the helical domain (HD), and H1047R on exon 20, encoding the kinase domain (KD) [31]. Previous research has indicated that endocrine-resistant PIK3CA-mutant cases may potentially bene t from treatment with PI3K inhibitors, underscoring the signi cance of elucidating the prevalence of PIK3CA mutations among populations to inform potential future avenues in hormone receptor-positive breast cancer treatment [32].…”

Section: Introductionmentioning

confidence: 99%

“…Research underscores the signi cance of analyzing PIK3CA gene mutations due to their association with the onset and progression of breast cancers (BCs). These mutations are detected in 20-40% of BC patients [29,30,32]. Studies suggest that the presence of PIK3CA mutations can negatively impact disease-free survival (DFS) and pathological complete response (pCR) to targeted therapy and chemotherapy in patients with HER2-enriched and triple-negative breast cancer (TNBC) [33].…”

Section: Introductionmentioning

confidence: 99%

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Unveiling the genetic landscape: high frequency of pik3ca mutation in luminal a and b breast cancer within the Indonesian population

Prajoko,

Heriyanto,

Amalina

et al. 2024

Preprint

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Background: Breast cancer (BC) is a global health concern with significant mortality rates, necessitating a deep understanding of its molecular landscape. Objective: This study focuses on the prevalence of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutations in Luminal A and B BC within the Indonesian population. Luminal A and B BC, characterized by estrogen receptor (ER) and/or progesterone receptor (PR) positivity, face challenges in endocrine therapy due to acquired resistance, often mediated by PI3K/Akt/mTOR pathway activation. Methods: The study, conducted from 2019 to 2022, collected samples from diverse Indonesian regions, representing various islands. Histopathological analysis and immunohistochemistry classified samples into molecular subtypes. Results: Genetic analysis using PIK3CA mutation detection kits revealed a mutation frequency of 36.2%, with Luminal A BC exhibiting the highest mutation rate (46.1%). Notably, Luminal B HER-2 (positive) BC demonstrated a lower mutation frequency (19%). Statistical analyses highlighted correlations between PIK3CA mutations and molecular subtypes (p=0.01), with Luminal A and Luminal B HER-2 (negative) BC showing higher mutation frequencies. No significant associations were observed with age, tumor location, or histopathology diagnosis. Luminal A BC demonstrated a higher prevalence of PIK3CA mutations in patients over 50 years old (68.1%). Comparisons with existing literature and inconsistencies in PIK3CA mutation prevalence across different BC subtypes underline the need for population-specific research. Conclusion: The study emphasizes the importance of assessing PIK3CA mutations in BC management, offering insights for personalized therapies and potential advancements in understanding this complex disease within the Indonesian context.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Unveiling the genetic landscape: high frequency of pik3ca mutation in luminal a and b breast cancer within the Indonesian population

Prajoko,

Heriyanto,

Amalina

et al. 2024

Preprint

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PIK3CA mutations in endocrine-resistant breast cancer

Schagerholm,

Robertson,

Toosi

et al. 2024

Sci Rep

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Around 75% of breast cancer (BC) patients have tumors expressing the predictive biomarker estrogen receptor α (ER) and are offered endocrine therapy. One-third eventually develop endocrine resistance, a majority with retained ER expression. Mutations in the phosphatidylinositol bisphosphate 3-kinase (PI3K) catalytic subunit encoded by PIK3CA is a proposed resistance mechanism and a pharmacological target in the clinical setting. Here we explore the frequency of PIK3CA mutations in endocrine-resistant BC before and during treatment and correlate to clinical features. Patients with ER-positive (ER +), human epidermal growth factor receptor 2 (HER2)-negative primary BC with an ER + relapse within 5 years of ongoing endocrine therapy were retrospectively assessed. Tissue was collected from primary tumors (n = 58), relapse tumors (n = 54), and tumor-free lymph nodes (germline controls, n = 62). Extracted DNA was analyzed through panel sequencing. Somatic mutations were observed in 50% (31/62) of the patients, of which 29% occurred outside hotspot regions. The presence of PIK3CA mutations was significantly associated with nodal involvement and mutations were more frequent in relapse than primary tumors. Our study shows the different PIK3CA mutations in endocrine-resistant BC and their fluctuations during therapy. These results may aid investigations of response prediction, facilitating research deciphering the mechanisms of endocrine resistance.

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PIK3CA mutations in breast cancer: A Tunisian series

Cited by 2 publications

References 54 publications

Unveiling the genetic landscape: high frequency of pik3ca mutation in luminal a and b breast cancer within the Indonesian population

Unveiling the genetic landscape: high frequency of pik3ca mutation in luminal a and b breast cancer within the Indonesian population

PIK3CA mutations in endocrine-resistant breast cancer

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