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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Metastasis02:30

Metastasis

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Metastasis is the spread of cancer cells from the original site to distant locations in the body. Cancer cells can spread via blood vessels (hematogenous) as well as lymph vessels in the body.
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
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Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
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Tumor Progression02:07

Tumor Progression

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Related Experiment Video

Updated: Jul 6, 2025

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
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In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

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Somatic BRCA Mutation in Metastatic Breast Cancer.

Tristan B Minick1, Robert A Norman2

  • 1Dermatology, University of Florida, Gainesville, USA.

Cureus
|January 1, 2024
PubMed
Summary
This summary is machine-generated.

Metastatic breast cancer recurrence was treated effectively with olaparib (Lynparza) in a patient with BRCA2-deficient tumors, demonstrating a new therapeutic avenue for advanced disease.

Keywords:
brca gene mutationbreast cancer metastasiscancer genomicsskin lesion biopsywide-excision

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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Multicentric invasive ductal breast carcinoma with lobular features presents a complex clinical challenge.
  • Metastatic breast carcinoma requires effective treatment strategies to prevent recurrence and manage disease progression.

Observation:

  • A 65-year-old female presented with new, asymptomatic raised erythematous lesions on her right upper arm.
  • Biopsies confirmed metastatic breast carcinoma in both lesions.

Findings:

  • FoundationOne testing revealed BRCA2 loss in the tumor, despite negative germline BRCA1/2 mutation results.
  • Treatment with olaparib (Lynparza) resulted in no additional recurrences over two years.

Implications:

  • PARP inhibitors like olaparib may be effective for metastatic breast cancer with somatic BRCA2 loss, even without germline mutations.
  • Targeted therapy based on tumor genetic profile offers a promising approach for managing advanced breast cancer.
  • This case highlights the importance of comprehensive genomic testing in guiding treatment decisions for recurrent metastatic breast cancer.