• Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/13

Click to flip

13 Cards in this Set

  • Front
  • Back
Sporadic cancers
Mutations that trigger tumorgenisis in somatic cells and therefore are not inherited. Acquired over a persons lifetime via carcinogens and such. Majority of cancers are these.
Inherited Cancers
Mutation present in germline results in inherited predisposition towards developing cancer. Cancer always occurs as a multistep genetic process.
4 things which make one suspect hereditary cancer.
1) Diagnosis before age 50
2) 2 or more primary cancer diagnoses in same individual
3) Multiple people in family with same or related tumors
4) Presence of physical features associated with an inherited cancer syndrome.
2 major breast cancer genes and % that are genetic
BRCA1 or 2.
5-10% genetic
% chance of breast or ovarian cancer with BRCA1 mutation? BRCA2?
BRCA1:
Breast = 50-85%
Ovarian = 40-50%
BRCA2:
Breast: = 50-85%
Ovarian = 10-20%
Red flags for BRCA1/2 mutations
1) Breast cancer diagnosis before age 50
2) Bilateral
3) Male breast cancer
4) personal/family history of ovarian cancer
5) Ashkenazi Jews (2% of women have mutation)
Screening for breast cancer
1) Monthly breast self exam
2) Clinical breast exam 2 times a year
3) Annual mammogram and breast MRI
3 reasons why you dont do genetic tests on children (under 18) for adult on set disorders
1) No risk for childhood malignancies
2) Would not change medical management
3) Takes away child's autonomy (they might not want to know)
Cowden Syndrome
Caused by a mutation in PTEN gene. Have 50% increased risk for breast cancer. Also increase in thyroid and uterine cancers. Also have:
-large head
-goiter
-skin probs
-intestinal polyps
-cognitive impairment
Li-Fraumeni syndrome
Caused by mutation in TP53. Increased risk for breast cancer, brain tumors, osteocarcenoma, and lots of others cancers. Lifetime cancer risk is 85-90%, 50% before the age of 40
Lynch Syndrome
Autosomal dominant disorder. 80% risk of colon cancer, typically before 50. Increased risk for endometrial, ovarian. Tumors usually in ascending colon and less polyps than standard colon cancer.
5 different mismatch repair genes can cause syndrome. MLH1 and MSH2 are most common.
90% have microsatellite instability (MSI).
Familial Adenomatous polyposis (FAP)
Mutation in APC gene. Autosomal dominant. Precancerous polyps develop at 16. Hundreds of them. 1005 risk of colon cancer if colonectomy isnt performed. Also at risk for upper gi and liver cancers as well as thyroid.
Retinal pigmentation can be diagnostic.
Genetic testing of children is appropriate.
Genetic information non-discrimination act (GINA)
Prohibits health insurance and employment discrimination based on genetic information or test results. Does not protect against discrimination in life insurance, disability, or long term care insurance.