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Genetic Tumor Syndromes

Genetic tumor syndromes encompass a group of inherited disorders that predispose individuals to the development of various types of tumors. These syndromes arise from specific genetic mutations or chromosomal abnormalities that are passed down through generations. At our company, we are committed to driving innovation in the development of therapies and animal models for genetic tumor syndromes.

Introduction to Genetic Tumor Syndromes

Genetic tumor syndromes, also known as hereditary cancer syndromes, refer to a group of inherited disorders characterized by an increased risk of developing specific types of tumors. These syndromes are caused by genetic mutations or chromosomal abnormalities that disrupt normal cellular processes involved in tumor suppression, DNA repair, or cell cycle regulation. These mutations are typically present in every cell of the affected individual's body, making them more susceptible to tumor development compared to the general population.

Classification of Genetic Tumor Syndromes

• Fanconi Anemia
  Fanconi anemia is an uncommon hereditary condition characterized by bone marrow failure, congenital anomalies, and an augmented susceptibility to the development of hematologic and solid tumors. It stems from genetic mutations affecting the genes associated with the Fanconi anemia pathway, which plays a crucial role in DNA repair and preservation of genomic stability. Individuals afflicted with Fanconi anemia exhibit an impaired capacity to repair DNA damage, resulting in chromosomal abnormalities and an elevated predisposition to cancer.
• Bloom Syndrome
  Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, sun-sensitive skin changes, and an increased risk of cancer. It results from mutations in the BLM gene, which encodes a DNA helicase involved in DNA repair processes. The loss of functional BLM protein leads to genomic instability, chromosomal rearrangements, and an elevated predisposition to cancer.
• Ataxia-telangiectasia Syndrome
  Ataxia-telangiectasia syndrome, also known as Louis-Bar syndrome, is a rare autosomal recessive disorder characterized by neurodegeneration, immunodeficiency, and an increased susceptibility to cancer. It arises from mutations in the ATM gene, which plays a critical role in DNA damage response and cell cycle regulation. Defects in ATM function impair DNA repair mechanisms and lead to the accumulation of DNA damage, genomic instability, and an elevated risk of cancer.
• RASopathies
  RASopathies encompass a group of genetic syndromes caused by mutations in genes involved in the RASpathway, a crucial signaling pathway involved in cell growth and differentiation. These syndromes include Noonan syndrome, Costello syndrome, and cardiofaciocutaneous syndrome, among others. RASopathies are characterized by a wide range of manifestations, including developmental delays, facial dysmorphisms, cardiac abnormalities, and an increased risk of certain cancers.

Therapy Development of Genetic Tumor Syndromes

At our company, we are committed to advancing the field of genetic tumor syndromes and developing diagnostics as well as effective therapies for these rare diseases. Our multidisciplinary team of experts, including geneticists, rare disease experts, and drug development experts, collaborate to identify and target the underlying genetic abnormalities in these syndromes.

Our Therapy Development Platforms

In addition to therapy development, we also specialize in the development of animal models for genetic tumor syndromes. Our expertise in genetically modified animal models enables us to create accurate representations of these syndromes, facilitating the testing and refinement of potential therapies in a preclinical setting, including pharmacokinetic analysis and drug safety evaluation.

Animal Model Development Services

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

• Tsui, Vanessa, and Wayne Crismani. "The Fanconi anemia pathway and fertility." Trends in Genetics 35.3 (2019): 199-214.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

• Myeloid Proliferations and Neoplasms
• Histiocytic and Dendritic Cell Neoplasms
• B-cell Lymphoid Proliferations and Lymphomas
• T-cell and NK-cell Lymphoid Proliferations and Lymphomas
• Stroma-derived Neoplasms of Lymphoid Tissues