ONCOLOGIA E GENETICA MEDICA APPLICATA ALLA MIDWIFERY

6 CFU - 2° Semester

Teaching Staff

PAOLO VIGNERI - Module ONCOLOGIA MEDICA - MED/06 - 2 CFU

Email: paolo.vigneri@unict.it
Office: A.O.U. Policlinico "G. Rodolico - S. Marco" - Via S. Sofia, 78 - Padiglione 8/D2
Phone: 095-3781516
Office Hours: da concordare per e-mail

CORRADO ROMANO - Module Medical Genetics - MED/03 - 2 CFU

Email: corrado.romano@unict.it
Office: Dipartimento Biometec/Via Santa Sofia n°97 95123 Catania
Phone: +39-095-4781189
Office Hours: Mercoledì dalle 12 alle 13 previo appuntamento telefonico

ANNA MARIA GRASSO - Module SCIENZE INFERMIERISTICHE E OSTETRICHE - MED/47 - 2 CFU

Email: grasso_annamaria@yahoo.it
Office: edificio 3 piano quarto
Phone: 3478830032
Office Hours: lunedì dalle ore 13.15 alle ore 13.45

Learning Objectives

ONCOLOGIA MEDICA
Students will have to describe the main mechanisms underlying cancer pathogenesis and will have to define the appropriate procedures required for the diagnosis of female patients diagnosed with cancers of the breast, the ovary, the uterus and the cervix. Description of the general clinical setting of these diseases will also be required as well as a critical description of the management strategies employed for pregnant patients undergoing cytotoxic chemotherapy for a concomitant neoplastic disease. Critical emphasis will be dedicated to the identification and the management of Hereditary Breast and Ovarian Cancer (HBOC) Syndrome
Medical Genetics
At the end of the course, students should be able to:

Describe the types of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, genomic imprinting and unstable repeat expansion. Understand the molecular basis of developmental and cancer genetics. Know the basic principles of Genetic counselling.
SCIENZE INFERMIERISTICHE E OSTETRICHE
The goal of the project is the first time that the European Union has been given the opportunity to do so.

Course Structure

ONCOLOGIA MEDICA
Frontal Teaching and Interactive Discussion

FRONTAL LESSONS
Medical Genetics
frontal teaching.

Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus
SCIENZE INFERMIERISTICHE E OSTETRICHE
FRONTAL LESSONS

IF IT IS NECESSARY FOR THE SITUATION OF UNCERTAINTY LINKED TO COVID-19 EVEN IN MIXED MODE

Detailed Course Content

ONCOLOGIA MEDICA
Tumor Biology
- Oncogenes, Tumor Suppressor Genes
- Stochastic Cancerogenesis and Cancer Stem Cells
Epidemiology and Cancer Prevention

· Incidence, Prevalence and Mortality Rates in Oncology

· Risk Factors for the Most Common Tumors

· Primary, Secondary and Tertiary Prevention

Treatment of the Most Common Forms of Female Cancer

· Breast Cancer

· Ovarian Cancer

· Cancer of the Uterus and the Cervix

Pregnancy Management in Women with Cancer

· Conventional Chemotherapeutic Drugs

Treatment of the Most Common Forms of Female Cancer

· Breast Cancer

· Ovarian Cancer

· Cancer of the Uterus and the Cervix

Hereditary Breast and Ovarian Cancer

· BRCA1 and BRCA2 genes

· Correlation between alterations in BRCA1 and BRCA2 genes and Breast Cancer
Medical Genetics
1. Genetic and genomic variations and their causes
  1. Concepts of polymorphism and mutation and their evolutionary significance
  2. Functional Classification of sequence mutations
  3. Costitutional and somatic mutations
1. Inheritance patterns of Mendelian and sex-linked genetic diseases
  1. Dominant, recessive and sex-linked alleles
  2. Pseusodominant and digenic inheritance
  3. Penetrance and expressivity
  4. Mosaicism
  5. Genomic imprinting
  6. Anticipation and repeat expansion diseases
1. Other patterns of inheritance
  1. Mitochondrial inheritance
  2. Polygenic and multifactorial inheritance
  3. Models of multifactorial diseases
  4. The genetic basis of complex diseases
1. Population Genetics
  1. the Hardy-Weinberg equilibrium and its deviations
  2. Founder effect and genetic drift
1. The chromosomal basis of genetic diseases
  1. Abnormalities of chromosome number and meiotic non-disjunction
    1. Turner syndrome , Down syndrome , Edwards syndrome, Patau syndrome
  2. Abnormalities of chromosomal structure
    1. Translocations, Inversions, deletions, duplications
    2. The plasticity of human genome : The copy number variants
    3. Mechanisms of of copy number variants formation
  3. Uniparental disomy
    1. Trisomic e monosomic rescue
  4. Technical approaches for chromosome structure analysis
    1. Karyotype
    2. FISH
    3. Array-CGH and SNP-array
1. Developmental Genetics
  1. Abnormalities of the signaling pathways: FGF, SSH, Wnt e TGF-β
  2. Transcription factors
1. Cancer genetics
  1. Tumor Suppressor genes
  2. Oncogenes
  3. Hereditary cancer
1. Genetic counselling
  1. Definition and principles
  2. Recurrence risk , the bayesian method
1. New techniques in molecular genetics
a. Array-CGH

b. Next generation sequencing

c. Non invasive prenatal testing
SCIENZE INFERMIERISTICHE E OSTETRICHE
WOMAN ASSISTANCE WITH GYNECOLOGICAL PATHOLOGIES
SECONDARY AND TERTIARY PRIMARY PREVENTION
SUPPORTING THE WOMAN WITH MALIGNA PATHOLOGY
INSTRUMENTAL SURVEY

Textbook Information

ONCOLOGIA MEDICA
Collegio degli Oncologi Medici Italiani - Manuale di Oncologia Medica - 2018 - Edizioni Minerva Medica
Medical Genetics
Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier

Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier
SCIENZE INFERMIERISTICHE E OSTETRICHE
LADEWING-LONDON-DAVIDSON "PICCIN MATERNITY ASSISTANCE"

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