Random Genetic Mutation Review Flashcards
Defect in Osteogenesis Imperfecta
defect in type I collagen
Name the genetic Mutation and defect
- bowed long bones
- joint hyper-mobility
- blue sclera
- hearing loss by age 50
Osteogenesis imperfecta
defect in type I collagen
Defect in type 1 Collagen
Osteogenesis imperfecta
Where is BRCA2 located, inheritance pattern, what does it code for
- Chromosome 13
- defect inherited in autosomal dominant fashion
- tumor suppressor gene when no defect is present
associated cancers with p53 mutation
Li-Fraumeni syndrome: breast, sarcoma, brain, leukemia, adrenal
associated cancers with PTEN mutation
Cowden Syndrome: breast, endometrial, thyroid
Where is BRCA1 located
chromosome 17
what does PTEN code for
phosphate and tensin analog tumor suppression gene
Genetic Mutations associated with Lynch Syndrome
MSH1
MLH1
MSH6
PMS2
Cancers associated with Lynch Syndrome
Colon Ovary Endometrium Breast Stomach
which type of cancer has the highest rate of RAS mutations?
Pancreatic cancer
protein marker expressed in schwannomas, neurofibroma, and melanoma
S-100
which genetic abnormality leads to the development of malignant hyperthermia from certain inhaled anesthetics?
a mutation in the ryanodine receptor type 1 gene
multiple papillary lesions on the lip, breast lump, family history of thyroid cancer
Cowden Syndrome
PTEN mutation
STK11 mutation
Peutz-Jeghers syndrome
TP53 mutation
Li-Fraumeni syndrome
CDH1 mutation
Diffuse Gastric Cancer
Patient with CDH1 mutation, needs what kind of prophylactic surgery?
Total gastrectomy between ages of 18-40
they have a high risk of developing diffuse gastric cancer
mutation within 5q21, what gene is it?
APC gene
- patient has familial adenomatous polyposis
When do you start endoscopic surveillance for APC carriers?
between age 20-25 or when colon polyps first appear, whichever is first
when do you start colonoscopy for APC carriers?
every 1-2 years starting at age 10-15
defect in MEN type I
MEN1
defect in MENIIA
mutation in RET proto-oncogene
Defect in MENIIB
mutation in RET proto-oncogene
characteristics of MENI
3 Ps
- parathyroid hyperplasia
- pancreatic islet tumors
- pituitary adenomas (prolactinomas)
screening tests for MENI
- metabolic panel (specifically looking at calcium)
- gastrin level
- prolactin level
screening tests for MENIIA and MENIIB
- calcitonin
- plasma metanephrines
most common cancers in lynch syndrome
- colorectal
- gastric
- endometrial + ovarian in women
