Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
95 Cards in this Set
- Front
- Back
|
What is hormonal therapy for breast cancer?
|
Some breast cacners overexpress estrogen and progesterone receptors. Treat with Tamoxifen and Aromatase inhibitors--Arimidex, Femara, Aromasin
|
|
|
2 syndromes assoc. with cancer risk due to chromosome instability
|
ataxia telangiectasia
Fanconi anemia |
|
|
Cancers assoc. with Fanconi anemia
|
head and neck cancer
leukemia |
|
|
Frequency among AJs of the 3 BRCA mutations
|
185delAG(BRCA1)=1%
5382insC(BRCA1)=.15% 6174delT(BRCA2)=1.5% |
|
|
True or False: Relative risks are not additive or multiplicative.
|
True.
|
|
|
Limitations of the Gail model
|
No 2nd degree relatives
No paternal family history No age of onset, bilateral, multiple, or other cancer types Does not account for predisposition genes Based on Caucasian women with regular screening |
|
|
Limitations of the Claus model
|
Breast cancer only, no other cancers
No bilateral, multiple cancers Only 2 relatives No other personal risk factors |
|
|
Using risk models, what is the cutoff for chemoprevention recommendation?
|
1.67 five-year-risk
|
|
|
What is BRCAPRO?
|
Computerized statistical Bayesian model that calculates BRCA carrier probability based on:
History of breast and ovarian cancer and age of onset for proband, first, and 2nd degree relatives current age/age at death of unaffected relatives |
|
|
What percent of heritable retinoblastoma cases have a family history?
|
20%
|
|
|
Classic Li-Fraumeni criteria
|
1. A proband with sarcoma under 45 AND
2. A FDR with any cancer under 45 AND 3. First or second degree relative with any cancer under 45 or sarcoma at any age |
|
|
Li-Fraumeni is thought to account for what % of all breast cancer cases?
|
less than 1%
|
|
|
Li-Fraumeni is thought to account for what % of all childhood brain tumor cases?
|
2-10%= red flag
|
|
|
What % of families meeting Li-Fraumeni criteria have identifiable p53 mutations?
|
70%
|
|
|
Incidence of Cowden syndrome
|
1 in 200,000, may be more
|
|
|
Major and minor diagnostic criteria for Cowden
|
Major:
Breast cancer thyroid cancer (usually follicular) macrocephaly lhermitte-duclos endometrial cancer Minor: other thyroid lesions MR lipomas fibromas hamartomatous intestinal polyps GU tumors/malformations |
|
|
Surveillance for PTEN syndromes
|
annual physical exam at 18
mammogram at 30-35, clin exam at 25 colonoscopy at 50 annual urinalysis annual thyroid exam, baseline u/s at 18 annual uterine biopsy at 35, transvg u/s after menopause |
|
|
What gene, besides PTEn, can cause Bannayan-Riley-Ruvalcaba?
|
BMPR1A, others
|
|
|
Features of Bannayan-Riley-Ruvalcaba?
|
hamaratomatous polyps of GI tract
macrocephaly lipomas thyroid problems freckled penis |
|
|
Tumors common to Proteus syndrome
|
bilateral ovarian cystaenomas
parotid adenoma |
|
|
Why is Proteus often misdiagnosed?
|
mosaic distribution
|
|
|
Features and gene assoc. with MEN1
|
MEN1 gene, chromosome 11
tumors of 3P's: anterior Pituitary Pancreatic islet cells Parathyroid ...and adrenal cortex |
|
|
Features and gene assoc. with MEN2A
|
RET on chr 10
Thyroid C cells (Medullary) adrenal medulla parathyroid |
|
|
Penetrance of MEN1
|
50% by age 20, 100% by age 60
|
|
|
What tends to be the earlies endocrine problem in MEN1?
|
hyperparathyroidism...hypercalcemia, kidney stones
|
|
|
Of all medullary thyroid carcinomas, what % are sporadic?
What % are due to MEN2A? |
75% sporadic
20-25% MEN2A |
|
|
MEN2A lifetime cancer risks:
medullary thyroid carcinomas? pheochromocytomas? hyperparathyroidism? |
medullary thyroid carcinomas= 95-100%
pheochromocytomas= 50% hyperparathyroidism= 15-30% |
|
|
Developmental abnormalities assoc. with MEN2B
|
megacolon
mucosal neuromas ganglioneuromatosis Marfanoid habitu typical facies-big lips, tongue tumors |
|
|
Medullary thyroid cancer plus pheochromocytomas plus hyperparathyroidism--what syndrome?
|
MEN2A
|
|
|
Average lifetime risk of gastric cancer
|
1 in 113
|
|
|
Name 5 syndromes assoc. with familial gastric cancer
|
HNPCC
FAP Li-Fraumeni Peutz-Jeghers Hereditary diffuse gastric cancer (BRCA2) |
|
|
Hereditary pancreatic cancer accounts for what % of cases?
|
2%
|
|
|
Syndromes assoc. with pancreatic cancer
|
HNPCC
Peutx-Jeghers FAMMM FAP? Ataxia telangiectasia? Familial pancreatic carcinoma |
|
|
Hereditary renal cell carcinoma accounts for what % of cases?
|
3%
|
|
|
Types and percentages of renal cell carcinoma
|
clear cell=75%
papillary=10-15% chromophobe= 5% Oncocytoma= 3-5% |
|
|
Features of von Hippel-Lindau
|
CNS and retinal hemangioblastomas, renal cysts. pheochromocytomas, pancreatic tumors
|
|
|
Type of renal cell carcinoma assoc. with Birt-Hogg-Dube
|
oncocytic-chromophobe renal cell carcinoma
|
|
|
Gene assoc with Birt-Hogg-Dube
|
folliculin
|
|
|
Genes involved in Beckwith-Weidemann
|
IGF2 (paternal)
H19 (maternal) CDKN1C (mom) KCNQ1 (mom) KCNQ10T1 (dad) |
|
|
What % of Beckwith -Weidemann is inherited?
|
10-15%
|
|
|
Beckwith -Weidemann, when inherited, is usually due to mutations in what gene?
|
CDKN1C
|
|
|
Beckwith -Weidemann, when inherited, is usually from which parent?
|
mom
|
|
|
Hypomethylation of what gene can lead to Beckwith-Weidemann?
|
LIT1
|
|
|
In a female proband with a CDKN1 mutation, what is the risk of Beckwith-Weidemann to offspring? What if the proband is male?
|
female=50% male=less than 50%
due to preferential maternal transmission and incomplete penetrance |
|
|
X-linked overgrowth syndrome
|
Simpson-Golabi-Behmel
Xq26 GPC3 gene |
|
|
What features are shared btwn Beckwith-Weidemann and Simpson-Golabi-Behmel? Which are unique to SGB?
|
shared=macrosomia, macroglossia, visceromegaly, renal anomalies
SGB only=cleft lip, skeletal and cardiac anomalies, supernumerary nipples |
|
|
Cancer risks assoc.with Beckwith-Weidemann
|
Wilms tumor
hepatoblastoma' adrenocortical carcinoma neuroblastoma rhabdomayosarcoma gonadoblastoma |
|
|
Cancer screening protocol for Beckwith-Weidemann
|
Abdominal u/s every 3 mos until 4 years
renal u/s ages 4-8 blood AFP every 6 weeks until age3 4 |
|
|
Wilms tumor screening for WAGR kids
|
renal u/s every 3 months until age 8
|
|
|
Cumulative risk of renal failure in WAGR kids
|
38%
|
|
|
Syndromes assoc. with Wilms tumor development
|
Denys-Drash
WAGR Beckwith=Weidemann Simpson-Golabi-Behmel Familial Wilms |
|
|
3 loci assoc.with familial Wilms tumor
|
11p13
17q12-21 19q13 |
|
|
Size and location of RB1 gene
|
27 exons
13q14 |
|
|
Lifetime risk of other cancers assoc with retinoblastoma mutations. What cancers?
|
6-10%
osteosarcoma, soft tissue sarcoma, melanoma |
|
|
What % or retinoblastoma is heritable?
|
heritable =40%
nonheritable=60% |
|
|
Of all heritable retinoblastoma, what % is bilateral?
|
80% bilateral
20% unilateral 1-5% trilateral |
|
|
Of patients with unilateral retinoblastoma, what % have a germline mutation?
|
10-15%
|
|
|
Function of normal PTEN gene product
|
Regulates cell cycle arrest and apoptosis
|
|
|
Brain tumor assoc. with PTEN syndromes
|
Lhermitte-Duclos disease:
cerebellar dysplastic gangliocytomas |
|
|
What features should be assoc. with a cancer syndrome for testing to be offered to kids?
|
well-defined syndrome
high penetrance, early onset single gene, not many assay with high sensitivity and specificity results will affect treatment |
|
|
Advantages of genetic testing for cancer syndromes
|
Identify those at risk
Eliminate those not at risk Come up with screening plan, cancer surveillance early cancer treatment Plan cancer prevention Look for 2nd cancers |
|
|
Disdvantages of genetic testing for cancer syndromes
|
expensive
anxiety provvoking may be technically hard time-consuming may not identify all mutations Impact of some mutations unknown (VOUS) survivor guilt/victim issues insurance issues |
|
|
Where are dermoid cysts usually found?
|
ovaries, spine, midline, or skin around head and neck
|
|
|
What is a desmoid tumor?
|
Hard, potato-like, benign tumor due to fibroblast overgrowth
|
|
|
What syndrome:
pilomatricomas epidermal cysts osteomas and desmoid tumors CHRPE intestinal polyps |
Gardner (FAP)
|
|
|
3 genes assoc. with Muir-Torre
|
MSH2
MLH1 FHIT |
|
|
Features of Gorlin syndrome
|
jaw cysts
basal cell carcinomas plantar and palmar pits skeletal anomalies neoplasms/hamartomas |
|
|
Surveillance options for HNPCC
|
colonoscopy at 20-25, repeat every 1-2 years
transvag u/s and endometrial biopsy annually starting at 25-35 urinalysis with cytology annually at 20-25 |
|
|
Cancers assoc. with Peutz-Jeghers
|
colon cancer
small bowel ovary sex cords pancreas lung |
|
|
Another name for STK11 gene
|
LKB1
|
|
|
Name 2 hamartomatous polyp syndromes
|
Peutz-Jeghers
juvenile polyposis syndrome |
|
|
Genes assoc.with juvenile polyposis syndrome
|
BMPR1A, MADH4
|
|
|
Renal cell cancer syndrome associated with benign skin/smooth muscle tumors
|
Hereditary Leiomyomatosis and REnal Cell Cancer (HLRCC)
|
|
|
Gene and protein assoc. with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)?
|
FH
fumarate hydratase |
|
|
Features of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
|
benign skin tumors with smooth muscle involved
uterine fibroids renal tumors (10-16%)-papillary |
|
|
Name 3 genetic syndromes with nerve-based tumors
|
NF1, NF2, schwannomatosis
|
|
|
Gene and location assoc. with Schwannomatosis
|
INI1
22q11 |
|
|
Features of NF1
|
Malignant peripheral nerve sheath tumors
Plexiform neurofibromas Optic gliomas cafe-au-lait spots Lisch nodules bone dysplasia dermal neurofibromas |
|
|
Features of NF2
|
Schwannomas
Meningiomas Spinal cord gliomas |
|
|
What % of NF1 patients have neurofibromas by puberty?
|
80%
|
|
|
What % of kids with NF1 have LD?
|
30-65%
|
|
|
Gene assoc. with NF-1-like syndrome
|
SPRED1
|
|
|
Features of NF-1-like syndrome
|
cafe-au-lait spots
axillary freckling macrocephaly No Lisch nodules, neurofibromas, ANS tumors Noonan-like dysmorphology DD |
|
|
Hallmark features of NF2
|
bilateral vestibular schwannomas, causing hearing loss, tinnitus, imbalance
|
|
|
Features of NF2
|
vestibular schwannomas
meningiomas gliomas ependymomas symptoms appear btwn 17-21 |
|
|
What % of NF2 patients are de novo?
|
50%
|
|
|
Screening for NF2
|
annual eye exam
annual neuro exam annual hearing eval at age 10-12: cranial MRI spinal MRI |
|
|
Features of Schwannomatosis
|
mult. cutaneous and spinal schwannomas
NO vestibular schwannomas tumors of peripheral nerve sheath |
|
|
Genes associated with Schwannomatosis
|
NF2
SMARCB1 IGLC1 INI1 |
|
|
Features of Tuberous Sclerosis
|
Skin: hypomelanotic macules
facial angiofibromas shagreen patches ungual fibromas Brain: cortical tubers subependymal nodules giant cell astrocytomas seizures Renal: angiomyolipomas cysts Cardiac: Rhabdomyoma |
|
|
Cancers associated with MEN1
|
Parathyroid, pituitary, pancreatic islet cells tumors.
Also foregut carcinoid, thyroid and adrenocortical adenoma, ependymoma |
|
|
What and where is the gene associated with MEN1?
|
MEN1 gene on 11q13
menin protein |
|
|
Most common cancers of MEN2
|
Medullary thyroid carcinoma
medullary adrenal tumor (pheochromocytoma) parathyroid hyperplasia |
|
|
Gene for MEN2, and location
|
RET protooncogene
10q11.2 |
|
|
What is FAMMM?
|
Familial Atypical Mole Malignant Melanoma syndrome, or Hereditary Dysplastic Nevus syndrome
|
