Genetic Factors in Cancer Quiz

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Questions and Answers

What is a key characteristic of inheritable tumors?

They have no relation to genetic predisposition.

They are usually induced by lifestyle choices.

They are due to genetic mutations passed through families. (correct)

They arise from environmental factors only.

Which gene is primarily associated with Li-Fraumeni Syndrome (LFS)?

TP53 (correct)

RET

APC

BRCA1

Which of the following cancers is NOT associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome?

Pancreatic cancer

Breast cancer

Ovarian cancer

Lung cancer (correct)

What is the inheritance pattern of Familial Adenomatous Polyposis (FAP)?

Autosomal dominant Signup and view all the answers

Which cancer has a nearly 100% risk without intervention for individuals with Multiple Endocrine Neoplasia Type 2A (MEN2A)?

Medullary thyroid cancer Signup and view all the answers

What is the primary aim of genetic counseling?

To provide psychological support and resources. Signup and view all the answers

Which of the following is considered a hallmark of cancer?

Metastasis Signup and view all the answers

What type of therapies does a multimodal approach to cancer treatment NOT include?

Homeopathy Signup and view all the answers

Which genetic mutation is involved in Hereditary Breast and Ovarian Cancer (HBOC)?

BRCA1 Signup and view all the answers

What is the primary intention behind terminal sedation in palliative care?

To relieve intractable pain Signup and view all the answers

Which imaging technology is most commonly used for tumor staging in cancer treatment?

PET-CT Signup and view all the answers

What does a complete response in cancer treatment assessment indicate?

No evidence of tumor Signup and view all the answers

In the context of cancer therapy, what is the role of a geneticist on the diagnosis team?

Identify mutations for targeted therapy Signup and view all the answers

What is required for euthanasia to be legally performed in some jurisdictions?

Ethical evaluation and explicit patient consent Signup and view all the answers

What is the primary purpose of clinical/diagnostic genetic tests?

To confirm a genetic disease in symptomatic individuals Signup and view all the answers

What is a key feature of predictive/presymptomatic tests?

They identify carriers at risk of developing a disease. Signup and view all the answers

Which element is NOT required under the legal framework (Portugal - Law 12/2005) for genetic testing?

Mandatory follow-up genetic tests Signup and view all the answers

Which ethical principle emphasizes an individual’s right to make their own decisions regarding genetic testing?

Autonomy Signup and view all the answers

What is the primary ethical dilemma associated with predictive testing in children?

The potential psychological harm of results Signup and view all the answers

Which of the following is a characteristic of Huntington's disease as mentioned in predictive testing?

It has a 100% penetrance with certainty of developing symptoms. Signup and view all the answers

What is an important aspect of sharing genetic information with relatives?

It can lead to conflicts between confidentiality and preventing harm. Signup and view all the answers

What is NOT a preventive option available for hereditary breast and ovarian cancer (HBOC)?

Improved DNA sequencing technologies Signup and view all the answers

Which principle of biomedical ethics focuses on fair access to genetic testing?

Justice Signup and view all the answers

What is the primary function of the male reproductive system?

Production, storage, and delivery of sperm Signup and view all the answers

Where are the seminiferous tubules located?

In the lobules of the testis Signup and view all the answers

Which cells in the testis are responsible for producing testosterone?

Leydig cells Signup and view all the answers

What role do the bulbourethral glands play in the male reproductive system?

Lubricating the urethra Signup and view all the answers

What characterizes the structure of the penis?

Three erectile bodies Signup and view all the answers

How does the pampiniform plexus assist the male reproductive system?

Helps with temperature regulation Signup and view all the answers

What is the function of the seminal vesicles?

Providing nourishment to sperm Signup and view all the answers

What is the mechanism of action of platinum salts like Cisplatin and Carboplatin?

Form DNA crosslinks causing strand breakage Signup and view all the answers

Which type of inhibitors specifically target cyclin-dependent kinases?

CDK4/6 inhibitors Signup and view all the answers

What is the role of Trastuzumab (Herceptin) in cancer treatment?

Blocks HER2 signaling Signup and view all the answers

Which drug is a Top I inhibitor used for managing DNA damage?

Irinotecan Signup and view all the answers

What effect do Taxanes, such as Paclitaxel, have on cancer cells?

Prevent spindle disassembly Signup and view all the answers

Which of the following statements is true regarding immune checkpoint inhibitors like PD-1/PD-L1 blockade?

Promotes T-cell activation Signup and view all the answers

What is the primary action of drugs targeting EGFR mutations in lung cancer?

Inhibit cell signaling Signup and view all the answers

Which drug is specifically a MEK inhibitor used in cancer treatment?

Trametinib Signup and view all the answers

What type of signaling pathways are frequently hyperactivated in cancers like colorectal cancer?

RAS-RAF-MEK-ERK pathway Signup and view all the answers

Study Notes

Male Reproductive System Overview

The male reproductive system produces, stores, and delivers sperm, and secretes testosterone.
The penis' structure includes the urinary bladder, prostate, prostate urethra, bulbourethral gland, and spongy urethra. The scrotum houses the testicles.

Testis Anatomy and Components

Located in the scrotum, outside the abdominal cavity, to maintain optimal temperature for spermatogenesis.
Encased in the tunica vaginalis, supported by the scrotal ligament.
Divided into lobules containing seminiferous tubules where sperm production occurs.
Rete testis and mediastinum are key structures for sperm transport.

Microscopic Features of Testis

Seminiferous tubules are the site of spermatogenesis.
Interstitial (Leydig) cells produce testosterone.
Sertoli cells provide nourishment and structural support for developing sperm

Blood Supply to Testis

Testicular arteries and veins form the pampiniform plexus, which aids in temperature regulation.

Spermatic Pathway

Epididymis: Coiled duct where sperm mature and gain motility
Ductus (Vas) Deferens: Transports sperm from the epididymis to the ejaculatory ducts.
Ejaculatory Duct: Formed by the union of the vas deferens and seminal vesicle duct, emptying into the urethra.

Accessory Glands

Prostate: Produces prostatic fluid, contributing to semen volume and enhancing sperm motility.
Seminal Vesicles: Secrete fructose-rich fluid for sperm energy.
Bulbourethral Glands: Produce mucus to lubricate the urethra and neutralize acidity.

External Genitalia

Penis: Comprised of erectile bodies (corpora cavernosa and corpus spongiosum); the corpus spongiosum surrounds the urethra. Blood supply is from superficial and deep arterial systems. The scrotum is the protective sac housing the testes and regulating temperature.

Functions Summary

Spermatogenesis: Sperm production
Hormone production: Testosterone production
Semen production: Contributions from accessory glands
Clinical correlation: Disorders of the testis, prostate disorders, and infertility

Child Development Overview

Child development encompasses physical, cognitive, emotional, and social changes from birth to adolescence.
Influences include genetic, environmental, and cultural factors.
Developmental milestones assessment tools are important.

Key Domains of Child Development

Physical Development: Growth in height, weight, and motor skills; milestones include rolling over, sitting, walking, grasping.
Cognitive Development: Development of thinking, problem-solving, and understanding, including memory, learning, and language. Social/emotional development: Relationship/emotional building, empathy, attachment, social play.

Bayley Scales of Infant and Toddler Development (Bayley-III)

Standardized tool for assessing developmental progress in 1-42 month olds.
Consists of five domains: Cognitive, language, motor, social-emotional, and adaptive behaviors.
Used for monitoring development, detecting delays, and guiding interventions.

Benefits and Limitations of Bayley Scales

Benefits: Comprehensive assessment across multiple domains, standardized scoring, early delay identification, parental insight.
Limitations: Trained professionals for administration, time-consuming, child's mood/environmental factors during testing could influence performance.

Brain in Puberty

Adolescence is a transitional developmental phase between childhood and adulthood.
Key characteristics include physical changes (puberty), cognitive shifts (abstract thinking), behavioral changes (risk-taking), and environmental influences (peer influence).

Stages of Adolescence

Early Adolescence (10-14 years): Dominated by physical changes and high emotional sensitivity.
Middle Adolescence (15-17 years): Intensified focus on social interactions and identity formation
Late Adolescence (18-21+ years): Prefrontal cortex matures, leading to improved impulse control and decision-making.

Brain Development During Adolescence

Grey Matter Changes (Synaptic Pruning): The brain eliminates unused neural connections increasing efficiency. Begins in the sensorimotor areas and progresses to the prefrontal area.
White Matter Changes (Myelination): Axons are coated with myelin, which improves signal transmission speed and efficiency. White matter volume increases in areas like the corpus callosum.
Brain Regions in Development: PFC, Limbic System play critical roles in adolescence.

Behavioral Implications of Adolescent Brain Development

Impulsivity and Risk-Taking: Limbic system hyperactivity and underdeveloped PFC lead to prioritization of short-term rewards over long-term consequences.
Emotional Sensitivity: Heightened amygdala activity results in stronger emotional responses and peer interactions are critical.
Decision-Making Under Stress: Stress disrupts adolescent decision-making due to immature stress response systems.
Substance Use: Adolescent substance use exploits the developing reward system and elevates the risk of dependency and later cognitive impairments (Alcohol, Cannabis, Nicotine, and other parties drugs impact adolescent development).

Sexually Transmitted Infections (STIs)

STIs are infections caused by bacteria, viruses, or parasites, transmitted primarily through sexual contact.
They can also be transmitted vertically from mother to child during pregnancy or delivery.
STIs affect women and younger adults disproportionately.

STI Classification

Bacterial STIs: Chlamydia, Gonorrhea, Syphilis (often asymptomatic)
Viral STIs: Human Papillomavirus (HPV), Hepatitis B, Herpes Simplex Virus (HSV).
Methods: STI diagnosis using clinical examinations and laboratory tests

STI Diagnosis and Treatment

Diagnosis: Clinical examination and lab tests (microscopy, culture, NAATs, serology)
Treatment: Varies by STI type; often antibiotics for bacterial STIs, antivirals for viral STIs; partners of infected individuals must also be treated.

STI Prevention

Safe Sex Practices: Consistent condom use, limiting sexual partners.
Vaccination: HPV and HBV vaccines
Health Education: Community awareness campaigns encouraging early testing and treatment.

Cancer Overview & Tumor Classification

Cancer is a disease characterized by uncontrolled cell growth, arising from genetic mutations in normal cells, resulting in neoplasms (tumors).
Benign Tumors: Non-invasive, localized growths.
Malignant Tumors: Invasive growths with potential for metastasis, leading to systemic damage.

Tumorigenesis

Initiating Factors: Endogenous (DNA replication errors, ROS) and exogenous (radiation, chemicals, viruses) mutagens damage DNA..
Hereditary Syndromes: Inherited syndromes increase cancer risks due to gene mutations.

Hallmarks of Cancer

Sustaining Proliferative Signaling: Activation of growth factor pathways
Evading Growth Suppressors: Loss of tumor suppressor genes
Resisting Cell Death: Anti-apoptotic factors block programmed cell death.
Enabling Replicative Immortality: Telomerase activation prevents telomere shortening, preventing cellular senescence.
Inducing Angiogenesis: Tumors promote blood vessel formation (VEGF production) ensuring nutrient and oxygen supply.
Activating Invasion and Metastasis: EMT and increased mobility, invasiveness (MMPs, integrins, loss of cell adhesion).

Emerging Hallmarks of Cancer

Genome Instability and Mutation: Accumulation of mutations due to defective DNA repair mechanisms.
Deregulating Cellular Metabolism: Warburg effect (increased glycolysis)
Tumor-Promoting Inflammation: Immune cells promote tumor growth.
Avoiding Immune Destruction: Tumor cells avoid immune surveillance.

Cancer Diagnosis and Treatment

Diagnostic Tools: Imaging, biopsy, molecular testing (mutations),
Local Treatments: Surgery, radiation,
Systemic Treatments: Chemotherapy, targeted therapy, hormonal therapy, immunotherapy.

Inheritable Tumors

Inherited mutations passed through families increase susceptibility to cancer.
Key Syndromes: HBOC, FAP, LFS.
Genetic screening and counseling are critical for individuals with family histories of these conditions.

Neoplasia and Molecular Pathology

Neoplasia Overview: Disorder of cell growth (abnormal mass of tissue—cells grow and divide excessively; cells fail to die on time).
Classification of Neoplasms (by origin and behavior): Ectoderm/Endoderm, Mesoderm, Mixed tumors, Blastomas.
Key Features of Malignancy: Invasion, metastasis, angiogenesis.
Hallmarks of Cancer: Sustaining Proliferative Signaling, Evading Growth Suppressors, Resisting Cell Death, Enabling Replicative Immortality, Inducing Angiogenesis, Activating Invasion & Metastasis, Immune evasion, metabolic deregulation. (These are listed in the document for easier location if required).

Molecular Basis of Oncology Treatments

Treatments are rooted in cancer biology and target key processes (DNA synthesis, cell cycle, tumor-host interactions).
Pillars of cancer therapy: Surgery, radiotherapy, chemotherapy, targeted therapy, immunotherapy.

Multidisciplinary Approach in Oncology

Definition: Collaboration of healthcare professionals across various specialties (surgery, oncology, pathology, radiology, etc.) to optimize cancer care and outcomes.
Key Teams: Pathologists, radiologists, geneticists, and surgical/medical oncologists, nurses, nutritionists, and psychologists.
Note:* This summary covers the provided documents, and is intended for study purposes only. Consult with qualified medical professionals for diagnosis and treatment.

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Description

Test your knowledge on the genetic aspects of cancer, including inheritable tumors, associated syndromes, and genetic counseling. This quiz covers key concepts related to Li-Fraumeni Syndrome, Hereditary Breast and Ovarian Cancer, and other cancer syndromes. Challenge yourself to identify inheritance patterns and hallmark characteristics of cancer.