GPT 2.10 Notes Flashcards
(23 cards)
What is the role of BRCA genes in cancer development?
BRCA1/2 are tumor suppressor genes involved in DNA repair; mutations increase breast and ovarian cancer risk
What is the role of APC gene in cancer development?
APC is a tumor suppressor gene regulating Wnt signaling; mutations cause familial adenomatous polyposis and colorectal cancer
How do aberrant DNA repair pathways contribute to cancer?
Defective repair leads to accumulation of mutations, genomic instability, and tumorigenesis
How is molecular biology applied to clinical genetics in breast cancer?
Genetic testing for BRCA mutations guides risk assessment and preventive strategies
How is molecular biology applied in familial colorectal cancer?
Testing for APC mutations and mismatch repair gene defects in Lynch syndrome
What are key pathological differences between benign and malignant neoplasia?
Benign: well-differentiated, slow growth, no invasion; Malignant: poorly differentiated, invasive, metastatic
What is the pathophysiology of colorectal cancer (CRC)?
Accumulation of genetic mutations leads to dysplasia and adenocarcinoma
What are common causes of sporadic CRC?
Age, diet, smoking, inflammation, somatic mutations
What are familial CRC syndromes?
Familial adenomatous polyposis (APC mutation), Lynch syndrome (mismatch repair defects)
What are clinical features of CRC?
Change in bowel habits, bleeding, anemia, weight loss, abdominal pain
What tests are used in CRC screening?
Fecal immunochemical test (FIT), colonoscopy for positive tests or high risk
What are diagnostic investigations for CRC?
Colonoscopy with biopsy, CT colonography, carcinoembryonic antigen (CEA) levels
How is CRC staged?
TNM staging (Tumor size, Node involvement, Metastasis)
How does CRC staging affect management?
Early stages: surgery; advanced: chemo/radiotherapy; metastatic: palliative
What is the pathophysiology of breast cancer?
Uncontrolled proliferation of mammary epithelial cells due to genetic and hormonal factors
What are causes of sporadic breast cancer?
Age, hormones, lifestyle, somatic mutations
What are familial breast cancer syndromes?
BRCA1/2 mutations, Li-Fraumeni syndrome
What are clinical features of breast cancer?
Lump, skin changes, nipple discharge, lymphadenopathy
What tests are used in breast cancer screening?
Mammography
What investigations diagnose breast cancer?
Ultrasound, mammogram, biopsy, MRI
How is breast cancer staged?
TNM system considering tumor size, lymph nodes, metastasis
How does breast cancer staging impact management?
Determines surgery, chemotherapy, radiotherapy, hormonal therapy
How do management strategies differ between breast and colorectal cancer?
Breast cancer includes hormonal therapy; CRC relies more on chemo and surgery
