Talking Genes in Breast and Pancreatic Malignancies

Barbara, Mary; Tsen, Adrianne; Tenner, Laura; Rosenkranz, Laura

doi:10.5455/msm.2019.31.146-149

Cited by 4 publications

(3 citation statements)

References 33 publications

(40 reference statements)

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“…Familial pancreatic cancer mutations residues are located mostly on BRCA1, BRCA2, p16, PALB2 genes. BRCA2 mutations are highly associated with familial and sporadic pancreatic cancers ( 90 ).…”

Section: Cancer Related Candidate Genes With Potential Of Ngs Panel Amentioning

confidence: 99%

Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice

Gašperšič

Paska

2020

Biochem. med. (Online)

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Personalized medicine is a developing field of medicine that has gained in importance in recent decades. New diagnostic tests based on the analysis of circulating cell-free DNA (cfDNA) were developed as a tool of diagnosing different cancer types. By detecting the subpopulation of mutated DNA from cancer cells, it is possible to detect the presence of a specific tumour in early stages of the disease. Mutation analysis is performed by quantitative polymerase chain reaction (qPCR) or the next generation sequencing (NGS), however, cfDNA protocols need to be modified carefully in preanalytical, analytical, and postanalytical stages. To further improve treatment of cancer the Food and Drug Administration approved more than 20 companion diagnostic tests that combine cancer drugs with highly efficient genetic diagnostic tools. Tools detect mutations in the DNA originating from cancer cells directly through the subpopulation of cfDNA, the circular tumour DNA (ctDNA) analysis or with visualization of cells through intracellular DNA probes. A large number of ctDNA tests in clinical studies demonstrate the importance of new findings in the field of cancer diagnosis. We describe the innovations in personalized medicine: techniques for detecting ctDNA and genomic DNA (gDNA) mutations approved Food and Drug Administration companion genetic diagnostics, candidate genes for assembling the cancer NGS panels, and a brief mention of the multitude of cfDNA currently in clinical trials. Additionally, an overview of the development steps of the diagnostic tools will refresh and expand the knowledge of clinics and geneticists for research opportunities beyond the development phases.

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Section: Cancer Related Candidate Genes With Potential Of Ngs Panel Amentioning

confidence: 99%

Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice

Gašperšič

Paska

2020

Biochem. med. (Online)

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“…Breast cancer is the most common neoplasm among women and the second leading cause of death for them. According to the American Cancer Society, approximately 1 in 8 women (13%) are diagnosed with invasive breast cancer, and 1 in 39 women (3%) will die from it [1][2][3]. Breast cancer exhibits genetic heterogeneity, displaying a variety of clinical manifestations with distinct outcomes and therapeutic responses.…”

Section: Introductionmentioning

confidence: 99%

Metachronous Mucinous Breast Carcinoma and Mucinous Pancreatic Cystadenoma in a Patient With Metabolic Comorbidities- Case Report and Minireview

Alexescu,

Obada,

Cozma

et al. 2023

Preprint

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Mucinous breast carcinoma is a rare subtype of mammary neoplasm encountered in medical practice. It represents approximately 1-6% of all breast cancers and is more common in postmenopausal women. There are two subtypes of mucinous breast carcinoma: pure and mixed. We report the case of a 73-year-old Caucasian woman diagnosed with mucinous pancreatic cystadenoma in 2007. She underwent a surgical procedure involving pancreatectomy of the body and tail, along with multiple known cardiovascular and metabolic comorbidities. In November 2019, during a clinical-biological evaluation for associated diseases, a mucinous carcinoma of the right breast was accidentally detected and later confirmed through further investigations. For treatment, a surgical procedure was performed involving lower right quadrantectomy with right axillary lymph node dissection. The postoperative clinical course was favorable. In conclusion, we present the case of a patient diagnosed with mixed mucinous breast carcinoma, without axillary lymph node invasion. Postmenopausal women with diabetes, overweight, and obesity have an increased susceptibility to breast cancer, with our patient having all these risk factors. To date, no study has demonstrated the genetic or radiation implication in the occurrence of mucinous carcinomas, nor the possible development of mucinous carcinomas in series in the same patient. Current data are insufficient to provide recommendations for the screening of malignant mucinous tumors in subjects with significant cardiometabolic risk factors.

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“…One of the tumors where WAVE3 has been heavily investigated is breast cancer. Breast cancer is the second leading cause of cancer-related deaths in women in the United States and worldwide (32)(33)(34)(35). Breast cancer causes more than 40,000 deaths in the United States annually (33,36,37).…”

Section: Introductionmentioning

confidence: 99%

Elucidating the molecular signaling pathways of WAVE3

Kansakar¹,

Wang²,

Markovic³

et al. 2020

Ann Transl Med

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Cancer metastasis is a complex, multistep process that requires tumor cells to evade from the original site and form new tumors at a distant site or a different organ, often via bloodstream or the lymphatic system. Metastasis is responsible for more than 90% of cancer-related deaths. WAVE3 belongs to the Wiskott-Aldrich syndrome protein (WASP) family, which regulate actin cytoskeleton remodeling as well as several aspects of cell migration, invasion, and metastasis. In fact, WAVE3 has been established as a driver of tumor progression and metastasis in cancers from several origins, including triple negative breast cancers (TNBCs), which are classified as the most lethal subtype of breast cancer, due to their resistance to standard of care therapy and highly metastatic behavior. In this review, we will attempt to summarize the recent advances that have been made to understand how WAVE3 contributes to the molecular mechanisms that control cancer progression and metastasis. We will also review the signaling pathways that are involved in the regulation of WAVE3 expression and function to identify potential therapeutic options targeted against WAVE3 for the treatment of patients with metastatic tumors.

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Talking Genes in Breast and Pancreatic Malignancies

Cited by 4 publications

References 33 publications

Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice

Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice

Metachronous Mucinous Breast Carcinoma and Mucinous Pancreatic Cystadenoma in a Patient With Metabolic Comorbidities- Case Report and Minireview

Elucidating the molecular signaling pathways of WAVE3

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