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GlossaryOncogenic Mutations

changes in DNA that can lead to cancer

Oncogenic mutations, also known as cancer-causing mutations, are changes in the DNA that can transform a normal cell into a cancerous one. These mutations often occur in genes that regulate cell growth, division, and death, such as oncogenes and tumor suppressor genes, leading to uncontrolled cell proliferation and tumor formation.

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Oncogenic Ras Mutation Induces Spatiotemporally Specific Tissue Deformation Through Converting Fluctuated Into Sustained ERK Activation

research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation

July 2022 in “Journal of Investigative Dermatology”

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

Oncogenic Kras Induces Spatiotemporally Specific Tissue Deformation Through Converting Pulsatile Into Sustained ERK Activation

research Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation

September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.

research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

23 citations , March 2017 in “JAAD case reports”

The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.

research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma

November 2021

Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.

research The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development

125 citations , February 2007 in “The EMBO Journal”

Fgfr2b helps maintain healthy skin and prevent cancer.

research Plasticity of differentiated cells in wound repair and tumorigenesis, part II: skin and intestine

40 citations , August 2018 in “Disease Models & Mechanisms”

Mature cells can re-enter the cell cycle and potentially lead to cancer.

research Mommy — where do tumors come from?

16 citations , May 2011 in “The Journal of clinical investigation/The journal of clinical investigation”

Some skin tumors may start from hair follicle stem cells.

research Clonal analysis of stem cells in differentiation and disease

11 citations , July 2016 in “Current Opinion in Cell Biology”

New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.

research Skin Stem Cells: At the Frontier Between the Laboratory and Clinical Practice. Part 1: Epidermal Stem Cells

2 citations , November 2015 in “Actas Dermo-Sifiliográficas”

Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.

research The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome

September 2023 in “Frontiers in cell and developmental biology”

Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.

research Hair(y) Matters in Melanoma Biology

7 citations , May 2020 in “Trends in molecular medicine”

The document concludes that the immune-inhibitory environment of the hair follicle may prevent melanoma development.

research Author response: Dynamics of nevus development implicate cell cooperation in the growth arrest of transformed melanocytes

September 2020

Moles may stop growing because of cell cooperation, not just because of aging cells.

research Decision letter: Dynamics of nevus development implicate cell cooperation in the growth arrest of transformed melanocytes

August 2020

Moles may stop growing due to cell cooperation, not just because of individual cell aging.

research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma

July 2025 in “Journal of Investigative Dermatology”

Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.

research Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis

13 citations , January 2023 in “Annual Review of Cancer Biology”

Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.

research Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermisin vivo

2 citations , November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.

research Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma

August 2021

The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.

research 131 Mutational landscape of extramammary Paget disease

April 2018 in “Journal of Investigative Dermatology”

The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.

research Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development

19 citations , May 2016 in “Biology Direct”

A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.

research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma

50 citations , February 2007 in “The Journal of Pathology”

Somatic BHD mutations are rare in Japanese renal tumors.

research Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes

3 citations , October 2024 in “All Life”

New treatments targeting genetic mutations in lung cancer are needed for better outcomes.

research Abstract 4385: Live-imaging the interface between homeostasis and cancer initiation

July 2016 in “Cancer research”

Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.

research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters

6 citations , May 2016 in “Experimental Dermatology”

The type of tumor suppressor gene lost affects the behavior of skin cancer.

research LB1031 Immune Cell-Mediated Amplification of Stem Cell Activation in Hairy Melanocytic Nevus via Osteopontin-CD44 Axis

1 citations , July 2024 in “Journal of Investigative Dermatology”

Immune cells boost stem cell activity in hairy moles, causing more hair growth.

research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands

7 citations , January 2025 in “Journal of Experimental & Clinical Cancer Research”

PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.

research Intestinal Stem Cell Imaging in Colorectal Cancer Screening

3 citations , November 2013 in “Journal of Stem Cells and Regenerative Medicine”

Imaging intestinal stem cells might help detect early signs of colorectal cancer.

research News in brief

June 2011 in “Expert Review of Dermatology”

Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.