Study your flashcards anywhere!

Download the official Cram app for free >

  • 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

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


Play button


Play button




Click to flip

72 Cards in this Set

  • Front
  • Back
What are 7 risk factors for Breast Cancer?
Family history
Early menarche
Estrogen use
Late menopause
Why is nulliparity associated with breast cancer risk?
Because there is increased exposure to estrogen
What germline mutation is the cause of Li Fraumeni syndrome?
TP53 (tumor suppressor)
If women with TP53 mutations survive the associated childhood cancers, what is their risk of developing breast cancer?
What percent of inherited breast cancer is associated with BRCA1 and BRCA2 mutations?
What is the gene mutation associated with Cowden syndrome?
What is the gene mutation associated witu Muir-Torre syndrome?
What is the gene mutation associated with Peutz-Jeghers syndrome?
What exactly is the role of the genes that are mutated in Fanconi's anemia?
Their encoded proteins play an important role in cross-linkage DNA-repair pathways.
What is the result of TP53 mutations?
Inability to repair cross-linkage, and replication of those mistakes.
Why are BRCA1/2 more associated with breast cancer than Fanconi's genes?
We don't know yet
What chromosome is BRCA1 tumor suppressor gene on?
What chromosome is BRCA2 tumor suppressor gene on?
What is the genetic inheritance pattern of both BRCA1 and 2?
Autosomal dominant
What is the role of BRCA1 and 2 encoded proteins?
Genomic stability
What is the difference between a nondeleterious and a deleterious gene mutation?
Nondeleterious is not associated with a disease, deleterious is one that is.
What is the risk of getting primary breast cancer if you have a BRCA1-associated mutation?
What puts you at a much higher risk of getting BRCA-1 associated breast cancer?
Having a non-hereditary breast cancer in the other breast first.
What other cancer does the presence of a BRCA1 mutation put you at risk for?
Ovarian cancer
What increased risk is associated with BRCA2 that is not with BRCA1 mutations?
Male breast cancer
What happens in women with BRCA1-2 mutations as they age?
Their risk of breast and ovarian cancer increases dramatically.
Which gene is associated with a HIGHER risk for ovarian cancer?
What are the 3 cancers associated with BRCA2?
-Male breast cancer
For wich BRCA gene are breast cancers most likely to be estrogen receptor POSITIVE?
What is the prognosis for hereditary breast cancer?
Same as for sporadic breast cancer
What type of tumors are hereditary ovarian cancers usually?
Papillary serous
What is the prognosis for hereditary ovarian tumors like?
Better than for sporadic ovarian cancers.
On what chromosome and gene are the germline mutations that cuase Li-Fraumeni syndrome?
Ch 17
TP53 gene
How common is Li-Fraumeni?
Very rare
What is the lifetime risk of cancer in women vs males with TP53 mutations?
Women: 90%
Males: 70%
on what chromosome is the PTEN gene?
Chromosome 10
What syndrome is associated with PTEN mutations?
What is the transmission of Cowden PTEN mutations?
Auto dominant
What are the cancers associated with Cowden's syndrome?
Breast and Thyroid
What is seen in almost all patients with Cowden's syndrome?
Hamartomas in the GI tract
What percent of all ovarian cancers are hereditary?
What is the most common gene associated with hereditary ovarian cancer?
What are the 2nd and 3rd most common genes associated with hereditary ovarian cancer?
2. BRCA2
3. HNPCC genes
What is HNPCC?
What are the 2 very important risk factors for CRC?
-Family history of it
-Hereditary syndrome
What is the normal lifetime risk of CRC in the general population?
What is the lifetime risk of CRC in patients with a personal history of colon neoplasia?
What is the normal lifetime risk of CRC in patients with IBD?
What is the normal lifetime risk of CRC in patients with the HNPCC mutation?
What is the normal lifetime risk of CRC in patients with Familial adenomatous polyposis?
What are the 3 main clinical features of HNPCC?
-Early/variable diagnosis age (~45)
-Tumor site in Proximal colon
-Extracolonic cancers may be seen
What are the 7 extracolonic cancers associated with HNPCC?
Bile ducts
Urinary tract
Small bowel
Sebaceous skin tumors
What is the progression from adenoma to carcinoma like in HNPCC?
How do the colonic adenomas in HNPCC compare to those in the general sporadic population's?
-More villous
-Occur at younger age
What are the tumors in HNPCC like?
-Poorly differentiated
-Increased mucinous and signet cell carcinomas
What type of inheritance is seen in HNPCC?
Autosomal dominant
What is the penetrance of HNPCC? What does that mean?
If you have the genetic mutation there is a 80% likelihood of developing the cancer.
What gene family do those mutated in HNPCC belong to?
Mismatch Repair - MMR
What does it mean to say that there is genetic heterogeneity in HNPCC?
There are several different genetic mutations on different chromosomes that result in the same disease phenotypes.
What is the hallmark of colon cancer in HNPCC?
Microsatellite instability
What is MSI caused by?
Mismatch repair failure
What percent of sporadic versus HNPCC tumors have microsatellite instabilities?
Sporadic: 10-15%
HNPCC: 95%
When is a microsatellite (MSI) assay useful? How is it useful?
-Useful in Sporadic colon cancer as a prognostic indicator
How many chromosomes and genes are associated with HNPCC?
5 genes on 3 chromosomes
What are the chromosomes associated with HNPCC?
2, 3, and 7
What are the most common genes mutated in HNPCC?
MLH1 and MSH2
What are the 2 types of cancer most associated with HNPCC gene mutations?
Is breast cancer a part of HNPCC?
What disease is a variant of HNPCC associated with MSH2 or MLH1 mutations?
Muir-Torre syndrome
What are the 3 typical features of Muir-Torre syndrome?
-Sebaceous gland tumors
What gene/chromosome are associated with Peutz-Jeghers syndrome?
-STK11 gene
-Chromosome 19
What are the 2 prominent features of Peutz-Jeghers syndrome?
-GI hamartomas
-Characteristic pigmentation on the lips
If you see a colon just carpeted with adenomas, what do you think?>
Familial adenomatous polyposis
What does untreated polyposis lead to?
100% guarantee of cancer
What is CHRPE?
Congenital hereditary retinal pigment epithelium
What is the inheritance pattern for FAP?
Auto dominant
What is the gene/chromosome associated with FAP?
-APC tumor suppressor gene
-Chromosome 5q