scholarly journals The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia

2021 ◽  
Vol 23 (1) ◽  
pp. 61-67
Author(s):  
Tatiana N. Sokolova ◽  
Svetlana N. Aleksakhina ◽  
Grigoriy A. Yanus ◽  
Aleksandr V. Sultanbaev ◽  
Konstantin V. Menshikov ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Molecular Genetic ◽  
Morphological Characteristics ◽  
Breast Cancer Patients ◽  
Pik3ca Mutations ◽  
Specific Pcr ◽  
Estrogen Receptor Positive ◽  
Er Positive ◽  
Droplet Pcr

Relevance. PIK3CA belongs to the top three most frequently mutated genes in breast cancer (BC), especially in estrogen receptor (ER) positive, HER2 negative BC subtype. With an approval of selective PI3K-alpha inhibitor, alpelisib, this alteration has become actionable in ER+HER2- tumors. The frequency and spectrum of PIK3CA alterations in various cohorts is affected by a number of factors, including the distribution of BC expression subtypes, histological types, patient age, and even ethnicity. Aim. Aim of the current study was to characterize the frequency and spectrum of PIK3CA alterations in Russian BC patients. Materials and methods. The analysis of PIK3CA exon 7, 9 and 20 mutations was performed in a cohort of Russian ER+HER2- BC patients by a combination of high-resolution melting analysis, allele-specific PCR, and digital droplet PCR. Results. PIK3CA lesions were identified in 62/206 (30%) patients. Noteworthy, 59/62 (95%) of the identified variants were represented by the three most common p.E542K, p.E545K, and p.H1047R substitutions. The analysis of clinical and morphological characteristics revealed the trends towards association of PIK3CA mutations with older age and more frequent metastatic lung involvement. Conclusion. The obtained data on the frequency and spectrum of PIK3CA somatic aberrations can be helpful when organizing molecular genetic testing of breast cancer patients and using PI3K inhibitors in Russian population.

scholarly journals Toronto Workshop on Late Recurrence in Estrogen Receptor–Positive Breast Cancer: Part 1: Late Recurrence: Current Understanding, Clinical Considerations

2019 ◽  
Vol 3 (4) ◽  
Author(s):  
Ryan J O Dowling ◽  
Kevin Kalinsky ◽  
Daniel F Hayes ◽  
Francois-Clement Bidard ◽  
David W Cescon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
International Workshop ◽  
Recurrence Risk ◽  
Late Recurrence ◽  
Current Understanding ◽  
Breast Cancer Patients ◽  
Related Factors ◽  
Estrogen Receptor Positive ◽  
Positive Breast Cancer

Abstract Disease recurrence (locoregional, distant) exerts a significant clinical impact on the survival of estrogen receptor–positive breast cancer patients. Many of these recurrences occur late, more than 5 years after original diagnosis, and represent a major obstacle to the effective treatment of this disease. Indeed, methods to identify patients at risk of late recurrence and therapeutic strategies designed to avert or treat these recurrences are lacking. Therefore, an international workshop was convened in Toronto, Canada, in February 2018 to review the current understanding of late recurrence and to identify critical issues that require future study. In this article, the major issues surrounding late recurrence are defined and current approaches that may be applicable to this challenge are discussed. Specifically, diagnostic tests with potential utility in late-recurrence prediction are described as well as a variety of patient-related factors that may influence recurrence risk. Clinical and therapeutic approaches are also reviewed, with a focus on patient surveillance and the implementation of extended endocrine therapy in the context of late-recurrence prevention. Understanding and treating late recurrence in estrogen receptor–positive breast cancer is a major unmet clinical need. A concerted effort of basic and clinical research is required to confront late recurrence and improve disease management and patient survival.

scholarly journals Neoadjuvant letrozole for postmenopausal estrogen receptor-positive, HER2-negative breast cancer patients, a study from the Danish Breast Cancer Cooperative Group (DBCG)

2017 ◽  
Vol 57 (1) ◽  
pp. 31-37 ◽  
Author(s):  
Signe Korsgaard Skriver ◽  
Anne-Vibeke Laenkholm ◽  
Birgitte Bruun Rasmussen ◽  
Jürgen Handler ◽  
Bo Grundtmann ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Cancer Patients ◽  
Cooperative Group ◽  
Breast Cancer Patients ◽  
Estrogen Receptor Positive ◽  
Postmenopausal Estrogen

scholarly journals Analysis of ESR1 and PIK3CA mutations in plasma cell-free DNA from ER-positive breast cancer patients

Oncotarget ◽  
2017 ◽  
Vol 8 (32) ◽  
pp. 52142-52155 ◽  
Author(s):  
Takashi Takeshita ◽  
Yutaka Yamamoto ◽  
Mutsuko Yamamoto-Ibusuki ◽  
Mai Tomiguchi ◽  
Aiko Sueta ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Plasma Cell ◽  
Breast Cancer Patients ◽  
Cell Free Dna ◽  
Pik3ca Mutations ◽  
Free Dna ◽  
Er Positive ◽  
Positive Breast Cancer

scholarly journals Medical ovariectomy in menopausal breast cancer patients with high testosterone levels: a further step toward tailored therapy

2017 ◽  
Vol 24 (11) ◽  
pp. C21-C29 ◽  
Author(s):  
Giorgio Secreto ◽  
Paola Muti ◽  
Milena Sant ◽  
Elisabetta Meneghini ◽  
Vittorio Krogh
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Androgen Receptor ◽  
Growth Factor ◽  
Cancer Patients ◽  
Serum Testosterone ◽  
Late Relapse ◽  
Breast Cancer Patients ◽  
Estrogen Receptor Positive ◽  
Epidermal Growth

Five years of adjuvant therapy with anti-estrogens reduce the incidence of disease progression by about 50% in estrogen receptor-positive breast cancer patients, but late relapse can still occur after anti-estrogens have been discontinued. In these patients, excessive androgen production may account for renewed excessive estrogen formation and increased risks of late relapse. In the 50% of patients who do not benefit with anti-estrogens, the effect of therapy is limited by de novo or acquired resistance to treatment. Androgen receptor and epidermal growth factor receptor overexpression are recognized mechanisms of endocrine resistance suggesting the involvement of androgens as activators of the androgen receptor pathway and as stimulators of epidermal growth factor synthesis and function. Data from a series of prospective studies on operable breast cancer patients, showing high serum testosterone levels are associated to increased risk of recurrence, provide further support to a role for androgens in breast cancer progression. According to the above reported evidence, we proposed to counteract excessive androgen production in the adjuvant setting of estrogen receptor-positive patients and suggested selecting postmenopausal patients with elevated levels of serum testosterone, marker of ovarian hyperandrogenemia, for adjuvant treatment with a gonadotropins-releasing hormone analogue (medical oophorectomy) in addition to standard therapy with anti-estrogens. The proposed approach provides an attempt of personalized medicine that needs to be further investigated in clinical trials.

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