Germline and Somatic mutations in postmenopausal breast cancer patients

Nagy, Tauana; Maistro, Simone; Encinas, Giselly; Katayama, Maria Lúcia Hirata; Pereira, Gláucia Fernanda de Lima; Gaburo-Júnior, Nelson; Franco, Lucas Augusto Moysés; Gouvêa, Ana Carolina Ribeiro Chaves de; Estevez-Diz, Maria Del Pilar; Leite, Luiz Antonio Senna; Folgueira, Maria Aparecida Azevedo Koike

doi:10.6061/clinics/2021/e2837

Cited by 9 publications

(9 citation statements)

References 60 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…10,11 Specifically, PI3KCA W552* has been identified in patients with breast carcinoma. 12 The anaplastic lymphoma kinase (ALK) gene is frequently rearranged in a variety of tumors, including inflammatory myofibroblastic tumor, 13,14,15 and was not overexpressed in our case based on the negative immunohistochemistry result. Interestingly, the exact alteration that we identified (ALK P1469S) has been reported in Ewing sarcoma.…”

Section: Discussionmentioning

confidence: 71%

Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations

Ortega

Sparks

Nava

et al. 2022

The American Journal of Dermatopathology

View full text Add to dashboard Cite

Neurothekeoma, a lesion of possible fibrohistiocytic origin, is a rare, benign, superficial soft tissue tumor, histologically subclassified in 3 types: myxoid, cellular, or mixed. It clinically presents as a solitary, pink to brown nodule, ranging from 0.3 to 2.0 cm. Four point mutations (PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M) were identified by next-generation sequencing of a neurothekeoma presenting in the left inner thigh of a 53-year-old man. We highlight novel genetic alterations (SMO G461S and ERBB3 L77M) and previously known mutations (PI3KCA w552* and ALK P1469S) that play a role in other pathogenic pathways, but to the best of our knowledge, these have not yet been reported in neurothekeoma.

show abstract

Section: Discussionmentioning

confidence: 71%

Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations

Ortega

Sparks

Nava

et al. 2022

The American Journal of Dermatopathology

View full text Add to dashboard Cite

show abstract

“…Cancer is a disease of the genome [27]. The development of many tumors starts at the cell level through a process of somatic mutation that causes genetic variation/instability and arises through natural selection which acts as purifying selection that eliminates the deleterious mutations, or as positive selection, which maintains the functionally advantageous mutations, which allow, from a neoplastic perspective, aberrant proliferation, invasion, and metastasis [28][29][30]. Most tumoral clones share genomic rearrangements and cancer driver gene mutations, illustrating that such events may occur early in the cancer evolutionary process [31].…”

Section: Bc Is a Genomic Diseasementioning

confidence: 99%

“…Multiple BC genes are known to be associated with fertility, aging, longevity, environmental adaptation, and evolution, their roles extending from cells to individuals and to populations [37]. Highly penetrant breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) are found in a wide variety of organisms [38], also being the most common germline mutated genes, while the phosphatidylinositol-3-kinase (PIK3CA) is the second most common somatic mutated gene in BC patients, just after TP53 [30]. Furthermore, BRCA1/BRCA2 downregulation and PIK3CA overexpression may be targeted for BC therapy [30].…”

Section: Bc Is a Genomic Diseasementioning

confidence: 99%

Onco-Breastomics: An Eco-Evo-Devo Holistic Approach

Neagu,

Whitham,

Bruno

et al. 2024

IJMS

View full text Add to dashboard Cite

Known as a diverse collection of neoplastic diseases, breast cancer (BC) can be hyperbolically characterized as a dynamic pseudo-organ, a living organism able to build a complex, open, hierarchically organized, self-sustainable, and self-renewable tumor system, a population, a species, a local community, a biocenosis, or an evolving dynamical ecosystem (i.e., immune or metabolic ecosystem) that emphasizes both developmental continuity and spatio-temporal change. Moreover, a cancer cell community, also known as an oncobiota, has been described as non-sexually reproducing species, as well as a migratory or invasive species that expresses intelligent behavior, or an endangered or parasite species that fights to survive, to optimize its features inside the host’s ecosystem, or that is able to exploit or to disrupt its host circadian cycle for improving the own proliferation and spreading. BC tumorigenesis has also been compared with the early embryo and placenta development that may suggest new strategies for research and therapy. Furthermore, BC has also been characterized as an environmental disease or as an ecological disorder. Many mechanisms of cancer progression have been explained by principles of ecology, developmental biology, and evolutionary paradigms. Many authors have discussed ecological, developmental, and evolutionary strategies for more successful anti-cancer therapies, or for understanding the ecological, developmental, and evolutionary bases of BC exploitable vulnerabilities. Herein, we used the integrated framework of three well known ecological theories: the Bronfenbrenner’s theory of human development, the Vannote’s River Continuum Concept (RCC), and the Ecological Evolutionary Developmental Biology (Eco-Evo-Devo) theory, to explain and understand several eco-evo-devo-based principles that govern BC progression. Multi-omics fields, taken together as onco-breastomics, offer better opportunities to integrate, analyze, and interpret large amounts of complex heterogeneous data, such as various and big-omics data obtained by multiple investigative modalities, for understanding the eco-evo-devo-based principles that drive BC progression and treatment. These integrative eco-evo-devo theories can help clinicians better diagnose and treat BC, for example, by using non-invasive biomarkers in liquid-biopsies that have emerged from integrated omics-based data that accurately reflect the biomolecular landscape of the primary tumor in order to avoid mutilating preventive surgery, like bilateral mastectomy. From the perspective of preventive, personalized, and participatory medicine, these hypotheses may help patients to think about this disease as a process governed by natural rules, to understand the possible causes of the disease, and to gain control on their own health.

show abstract

“…Breast cancer affects women of all ages. However, the incidence of breast cancer increases with age, with a peak incidence at 45-64 years ( 4 ). There are many factors associated with the risk of breast cancer ( 5 , 6 ).…”

Section: Introductionmentioning

confidence: 99%

Association between diabetes status and breast cancer in US adults: findings from the US National Health and Nutrition Examination Survey

et al. 2023

View full text Add to dashboard Cite

ObjectivesThe aim of this study was to investigate the association between diabetes status and the risk of breast cancer among adult Americans, exploring the impact of BMI, age, and race on this relationship.MethodsA cross-sectional analysis of 8,249 individuals from the National Health and Nutrition Examination Survey (NHANES) was conducted. Diabetes was categorized as type 2 diabetes and prediabetes, with both conditions diagnosed according to the ADA 2014 guidelines. The association between diabetes status and breast cancer risk was explored using multiple logistic regression analysis.ResultsPatients with diabetes had higher odds of breast cancer (OR: 1.51; 95% CI 1.00 to 2.28), Using the two-piecewise linear regression model, it was observed that there is a threshold effect in the risk of breast cancer occurrence at the age of 52 years. Specifically, the risk of breast cancer is relatively low before the age of 52 but increases significantly after this age.ConclusionsThis study identified a significant association between diabetes status and breast cancer risk among adult Americans. We also found a threshold effect in breast cancer occurrence at the age of 52. Age was significantly associated with breast cancer risk in both Non-Hispanic White and Non-Hispanic Black individuals. These findings underscore the importance of diabetes management, maintaining a healthy BMI, and age-related risk considerations in reducing breast cancer risk.

show abstract

Germline and Somatic mutations in postmenopausal breast cancer patients

Cited by 9 publications

References 60 publications

Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations

Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations

Onco-Breastomics: An Eco-Evo-Devo Holistic Approach

Association between diabetes status and breast cancer in US adults: findings from the US National Health and Nutrition Examination Survey

Contact Info

Product

Resources

About