Oncology Flashcards
p53 - associated cancers
Tumor suppressor gene - loss of function results in an increased risk of cancer
Common to many cancers, Li-Fraumeni syndrome
APC - associated cancers
Tumor suppressor gene - loss of function results in an increased risk of cancer
Adenomatous Polyposis Coli
Colorectal cancer
BRAC 1 - associated cancer
Breast and ovarian cancer
Tumor suppressor gene - loss of function results in an increased risk of cancer
BRAC 2 - associated cancer
Breast and Ovarian
Tumor suppressor gene - loss of function results in an increased risk of cancer
NF1 - associated cancer
Neurofibromatosis
Tumor suppressor gene - loss of function results in an increased risk of cancer
Rb gene - associated cancer
Rb = retinoblastoma
Tumor suppressor gene - loss of function results in an increased risk of cancer
WT1 gene - associated cancer
Wilm’s Tumor
- nephroblastoma; most common kidney cancer in children
Tumor suppressor gene - loss of function results in an increased risk of cancer
RET - associated cancer
MEN 2
PABL2 - associated cancer
Breast cancer
Partner and localiser of the BRAC2 gene
PTEN - associated cancer
Cowden syndrome - growth of multiple hamartomas and increased risk of breast, thyroid and endometrial cancer
3 targetable mutations in NSLC?
EGFR
ALK
ROS
EGFR mutation in NSCLC
Classic phenotype - young, female, Asian, never smoked
Next generation sequencing (NGS) on tumour sample
Treat with Tyrosine Kinase Inhibitors: Afatinib
Mechanisms of resistance to TKI in NSCLC
EGFR T790M mutation - Rx with Osimertinib
HER 2 amplification
MET amplification
Small-cell transformation
NSCLC and ALK rearrangements
Anaolastic lymphoma kinase (ALK)
ALK rearrangements in 5% of NSCLC
Non smokers: EGFR and KRAS wild-type
Detected by FISH
Treat with TKI: crizotinib, ceritinib, alectinib
Alectinib most efficacious and best CNS penetrance
Rare moderate breast cancer risk alleles
ATM FANC C FANC M BLM PALB2 CHEK2 BRIP1
Polyp associated colorectal cancer risk
FAP - APC gene mutation (chromosome 5q)
MutYH - phenotypically similar to FAP
Peutz -Jeghers Syndrome (STK11)
HPS
Non polyp associated colorectal cancer risk
Lynch syndrome: MLH1 MSH2, MSH6, PMS2
Familial CRC Syndrome X
Peutz -Jegher Syndrome
STK11 gene (autosomal dominant) Hamartomatous polyposis Kip, buccal, palm pigmentation Small intestine - intrasusseption in kids Increased risk CRC and breast cancer
Lynch syndrome
Hereditary non-polyposis colorectal cancer
Germaine mutation in DNA mismatch repair gene
Autosomal dominant
CRC, endometrial, ovarian
First: test tumor for evidence of DNA MMR defect
- microsatellite instability testing using PCR
- immunohistochemistry staining 4 MMR proteins
Second: Germaine testing for MMR gene mutation
