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72 Cards in this Set
- Front
- Back
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What are 7 risk factors for Breast Cancer?
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FEELDAN
Family history Early menarche Estrogen use Late menopause Diet Aging Nulliparity |
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Why is nulliparity associated with breast cancer risk?
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Because there is increased exposure to estrogen
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What germline mutation is the cause of Li Fraumeni syndrome?
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TP53 (tumor suppressor)
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If women with TP53 mutations survive the associated childhood cancers, what is their risk of developing breast cancer?
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90%
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What percent of inherited breast cancer is associated with BRCA1 and BRCA2 mutations?
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20%
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What is the gene mutation associated with Cowden syndrome?
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PTEN
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What is the gene mutation associated witu Muir-Torre syndrome?
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MSH2, MLH1
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What is the gene mutation associated with Peutz-Jeghers syndrome?
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STK11
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What exactly is the role of the genes that are mutated in Fanconi's anemia?
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Their encoded proteins play an important role in cross-linkage DNA-repair pathways.
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What is the result of TP53 mutations?
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Inability to repair cross-linkage, and replication of those mistakes.
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Why are BRCA1/2 more associated with breast cancer than Fanconi's genes?
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We don't know yet
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What chromosome is BRCA1 tumor suppressor gene on?
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17
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What chromosome is BRCA2 tumor suppressor gene on?
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13
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What is the genetic inheritance pattern of both BRCA1 and 2?
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Autosomal dominant
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What is the role of BRCA1 and 2 encoded proteins?
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Genomic stability
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What is the difference between a nondeleterious and a deleterious gene mutation?
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Nondeleterious is not associated with a disease, deleterious is one that is.
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What is the risk of getting primary breast cancer if you have a BRCA1-associated mutation?
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50-85%
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What puts you at a much higher risk of getting BRCA-1 associated breast cancer?
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Having a non-hereditary breast cancer in the other breast first.
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What other cancer does the presence of a BRCA1 mutation put you at risk for?
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Ovarian cancer
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What increased risk is associated with BRCA2 that is not with BRCA1 mutations?
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Male breast cancer
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What happens in women with BRCA1-2 mutations as they age?
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Their risk of breast and ovarian cancer increases dramatically.
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Which gene is associated with a HIGHER risk for ovarian cancer?
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BRCA1
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What are the 3 cancers associated with BRCA2?
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-Male breast cancer
-Prostate -Pancreatic |
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For wich BRCA gene are breast cancers most likely to be estrogen receptor POSITIVE?
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BRCA2
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What is the prognosis for hereditary breast cancer?
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Same as for sporadic breast cancer
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What type of tumors are hereditary ovarian cancers usually?
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Papillary serous
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What is the prognosis for hereditary ovarian tumors like?
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Better than for sporadic ovarian cancers.
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On what chromosome and gene are the germline mutations that cuase Li-Fraumeni syndrome?
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Ch 17
TP53 gene |
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How common is Li-Fraumeni?
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Very rare
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What is the lifetime risk of cancer in women vs males with TP53 mutations?
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Women: 90%
Males: 70% |
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on what chromosome is the PTEN gene?
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Chromosome 10
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What syndrome is associated with PTEN mutations?
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Cowden
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What is the transmission of Cowden PTEN mutations?
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Auto dominant
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What are the cancers associated with Cowden's syndrome?
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Breast and Thyroid
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What is seen in almost all patients with Cowden's syndrome?
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Hamartomas in the GI tract
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What percent of all ovarian cancers are hereditary?
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5%
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What is the most common gene associated with hereditary ovarian cancer?
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BRCA1
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What are the 2nd and 3rd most common genes associated with hereditary ovarian cancer?
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2. BRCA2
3. HNPCC genes |
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What is HNPCC?
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Hereditary
Nonpolyposis Colorectal Cancer |
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What are the 2 very important risk factors for CRC?
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-Family history of it
-Hereditary syndrome |
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What is the normal lifetime risk of CRC in the general population?
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5%
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What is the lifetime risk of CRC in patients with a personal history of colon neoplasia?
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15-20%
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What is the normal lifetime risk of CRC in patients with IBD?
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15-40%
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What is the normal lifetime risk of CRC in patients with the HNPCC mutation?
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70-80%
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What is the normal lifetime risk of CRC in patients with Familial adenomatous polyposis?
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>95%
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What are the 3 main clinical features of HNPCC?
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-Early/variable diagnosis age (~45)
-Tumor site in Proximal colon -Extracolonic cancers may be seen |
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What are the 7 extracolonic cancers associated with HNPCC?
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EOSBUSS
Endometrium Ovary Stomach Bile ducts Urinary tract Small bowel Sebaceous skin tumors |
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What is the progression from adenoma to carcinoma like in HNPCC?
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Rapid
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How do the colonic adenomas in HNPCC compare to those in the general sporadic population's?
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-Larger
-More villous -Occur at younger age |
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What are the tumors in HNPCC like?
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-Poorly differentiated
-Increased mucinous and signet cell carcinomas |
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What type of inheritance is seen in HNPCC?
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Autosomal dominant
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What is the penetrance of HNPCC? What does that mean?
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If you have the genetic mutation there is a 80% likelihood of developing the cancer.
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What gene family do those mutated in HNPCC belong to?
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Mismatch Repair - MMR
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What does it mean to say that there is genetic heterogeneity in HNPCC?
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There are several different genetic mutations on different chromosomes that result in the same disease phenotypes.
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What is the hallmark of colon cancer in HNPCC?
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Microsatellite instability
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What is MSI caused by?
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Mismatch repair failure
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What percent of sporadic versus HNPCC tumors have microsatellite instabilities?
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Sporadic: 10-15%
HNPCC: 95% |
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When is a microsatellite (MSI) assay useful? How is it useful?
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-Useful in Sporadic colon cancer as a prognostic indicator
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How many chromosomes and genes are associated with HNPCC?
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5 genes on 3 chromosomes
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What are the chromosomes associated with HNPCC?
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2, 3, and 7
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What are the most common genes mutated in HNPCC?
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MLH1 and MSH2
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What are the 2 types of cancer most associated with HNPCC gene mutations?
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-Colorectal
-Endometrial |
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Is breast cancer a part of HNPCC?
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No
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What disease is a variant of HNPCC associated with MSH2 or MLH1 mutations?
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Muir-Torre syndrome
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What are the 3 typical features of Muir-Torre syndrome?
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-HNPCC
-Sebaceous gland tumors -Keratoacanthomas |
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What gene/chromosome are associated with Peutz-Jeghers syndrome?
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-STK11 gene
-Chromosome 19 |
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What are the 2 prominent features of Peutz-Jeghers syndrome?
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-GI hamartomas
-Characteristic pigmentation on the lips |
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If you see a colon just carpeted with adenomas, what do you think?>
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Familial adenomatous polyposis
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What does untreated polyposis lead to?
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100% guarantee of cancer
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What is CHRPE?
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Congenital hereditary retinal pigment epithelium
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What is the inheritance pattern for FAP?
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Auto dominant
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What is the gene/chromosome associated with FAP?
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-APC tumor suppressor gene
-Chromosome 5q |
