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19 Cards in this Set

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  • Back
Risk factors for non-melanoma skin CA.
Risk factors for melanoma?
Skin CA: personal h/o sun exposure, actinic keratosis, white race, high liftetime # severe sunburns, family h/o

melanoma: large # moles >2 mm, presence atypical moles, light hair, actinic lentigines, heavy sun exposure, growth of mole , and easy sunburns
Recommendations for breast CA screening?
mammo q1-2 yrs begin age 40.
Yearly after age 50. Annual CBE.
Recommendations for colorectal cancer screening?
Women >age 50 = Colonoscopy q10 yrs OR FOBT yrly or Flex sig q5 or FOBT qyrly + flexible sigmoid in 5 yrs, double contrast bariium enema in q5.
What percent of breast and ovarian cancer is due to hereditary risk?
What types of genes are BRCA 1 and 2?
Tumor suppressor genes important in the repair of damaged DNA
Explain the two hit hypothesis for inherited cancer syndromes?
Each cell inherits a germline mutation in one allele (first hit); a second hit it at leats one cell in the target organ is enough for malignancy.
What percent of mutations in families with hereditary breast cancer are not found by standard BRCA 1 or 2 testing?
What is the lifetime risk of breast CA in the general population? in BRCA1? in men with BRCA2?
general population: 12.5%
BRCA1: 50-85%. early onset more common.
Men w/ BRCA2: 6% risk breast CA and 3-4fold increase in risk of prostate CA. Also assoc with slight incr pancreatic CA.
Lifetime risk of epithelial ovarian CA in BRCA 1 and 2 carriers? in the general population?
BRCA1: 16-44%, BRCA2: 10-20%/
general population: 1.7%
what are the patterns of ER/PR/Her 2 receptor status in BRCA 1 and 2?
BRCA 1: more often triple neg (ER/PR/HER2 neg), high grade ductal CA
BRCA2: more likely triple+
What are the characteristics of Li-Fraumeni syndrome?
germline p53 mutation, bone/soft tissue sarcomas, leukemia, brain tumors, adrenocortical ca, breast cancer. 50% risk of cancer by 35 and 70-90% lifetime risk of ca.
Characteristics of cowden syndrome?
multiple hamartomas, thyroid disease, uterine leimyomata, macrocephaly, mental retardation, breast ca.
Characteristics of Peutz-Jeghers syndrome?
benign GI polyps, abnormal pigmentation, incr risk breast ca, ovarian sex cord stromal tumors, adenoCA of cervix
Recommended breast CA screening in BRCA carriers?
monthly self br exam beginning 18 yrs
2-4 x annual CBE beggining age 25
annual mammo and MRI age 25 (usually 1 q6 mo)
Recommended ovarian ca screening in BRCA carriers?
annual pelvic age 25-35
annual TVUS w/ color doppler begin age 25-35
annual CA-125 begin age 25-35.
Does ppx oophorectomy in BRCA carriers improve the risk of breast ca?
Yes, reduces risk by 50%, high risk reduction in BRCA2
HNPCC/Lynch Syndrome characteristics?
80% lifetime risk of colon CA
60% lifetime risk endometrial CA
12% risk of ovarian ca by age 70
Other: transitional cell ca of the ureter/renal pelvis and adenocarcinomas of GI tract
What is the mutation type in HNPCC? What genes are implicated? what histologic finding are they assoc with?
Mismatch repair
assoc w/ microsatellite instability
Recommended screening in Lynch/HNPCC?
annual colonoscopy starting age 25 or 5 years before earliers age of cancer dx in family
annual endometrial ca screening beginning age 25-35 (annual pelvic exam, EMB, or TVUS)