Содержание
- 2. Mutations: Somatic and Germline Mutation in egg or sperm Nonheritable Somatic mutations Occur in nongermline tissues
- 3. Tumors Are Clonal Malignant cells
- 4. Somatic Mutations Diabetic islet cell Normal islet cell Normal lung cell Lung cancer cell Many years
- 5. De Novo Mutations New mutation in germ cell No family history of hereditary cancer De novo
- 6. теория двойного удара или двойной мутации В 1971 году Альфред Кнудсон предложил гипотезу, известную сейчас как
- 9. ОНКОГЕН — это ген, продукт которого может стимулировать образование злокачественной опухоли. Мутации, вызывающие активацию онкогенов, повышают
- 10. Протоонкоген — это обычный ген, который может стать онкогеном из-за мутаций или повышения экспрессии. Многие протоонкогены
- 11. Протоонкоген может стать онкогеном путем относительно незначительной модификации его естественной функции. три основных пути активации: 1.
- 12. Abnormal Cell Growth: Oncogenes Proto-oncogene to oncogene 1st mutation (leads to accelerated cell division) Normal genes
- 13. Tumor Suppressor Genes 1st mutation (leads to accelerated cell division) Normal genes (regulate cell growth) Tumor
- 14. Mutations in Tumor Suppressor Genes 1st mutation (susceptible carrier) Active oncogene No brakes! Active oncogene Normal
- 15. Two-Hit Hypothesis If first hit is a germline mutation, second somatic mutation more likely to enable
- 16. Regulatory Mutations Chromosome 17 Messenger RNA Her2 gene Her2 gene amplification Overexpression Her2 protein Her2 protein
- 17. Translocation of Bcr-Abl Genes Fusion protein with tyrosine kinase activity (q+) Ph (22q–) bcr-abl abl bcr
- 18. Different Locus, Different Allele, Same Phenotype Chromosome 17 BRCA1 BRCA2 Locus (spot on gene) Allele (gene)
- 19. Founder Effect in Ashkenazi Jewish Population An estimated 1 in 40 Ashkenazi Jews carries a BRCA1
- 20. Mutations in Cancer Susceptibility Genes: BRCA1 Nonsense/Frameshift Missense Splice-site Protein has role in genomic stability ~500
- 21. Mutations in Cancer Susceptibility Genes: BRCA2 Nonsense/Frameshift Missense Protein has role in genomic stability ~300 different
- 22. Autosomal Dominant Inheritance Equally transmitted by men and women No skipped generations Each child has a
- 23. Examples of Dominantly Inherited Cancer Syndromes
- 24. Autosomal Recessive Inheritance Two germline mutations (one from each parent) to develop disease Equally transmitted by
- 25. Some Recessively Inherited Cancer Syndromes
- 26. Other Genetic Conditions Linked to Increased Cancer Risk
- 27. Repair Failure Cancer Aging Inborn disease (Transient) cell cycle arrest Apoptosis (cell death) Nucleotide-excision repair (NER)
- 28. Cancer Susceptibility: Much Still Unknown
- 29. How do people know if they should consider genetic testing for BRCA1 and BRCA2 mutations? For
- 30. Li-Fraumeni Syndrome Li-Fraumeni Syndrome (LFS) was first described in 1969 by Drs. Frederick Li and Joseph
- 31. Classic Li-Fraumeni Syndrome (LFS): Three features must be present in a family to fit the classic
- 32. Li-Fraumeni-Like Syndrome (LFL): A person with any childhood cancer or sarcoma, brain tumor, or adrenal cortical
- 33. What Causes LFS? Changes in a “tumor suppressor” gene called “TP53” were discovered in 1990 as
- 34. Risk of Cancer in Patients with LFS The lifetime risk of cancer – all types combined
- 35. For now, in persons with a TP53 gene mutation, we can try to find cancers as
- 36. Cowden syndrome mutations in the PTEN gene Cowden syndrome is a disorder characterized by multiple noncancerous,
- 37. Cowden syndrome mutations in the PTEN gene (TSG) Cowden syndrome is associated with an increased risk
- 38. Что такое ОНКОГЕН ? 1.ген, стимулирующий образование опухоли 2. гены, предохраняющие клетки от ракового перерождения 3.
- 40. Скачать презентацию