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Amount of people that get cancer in a lifetime
1/3
Amount of women that get breast cancer
1/8
Frequency of colon cancer in Americans
1/20
Children that get cancer before 15
1/250
MEN type 1, cancers and gene
pituitary, parathyroid, pancreatic islet (foregut carcinoid, thyroid, adrenocortical adenoma, ependymoma, MEN1 11q13
MEN2, cancers and gene
medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia, Rett 10q11.23
FAMMM
1p=?
9p= CDKN2; p16, 12q, CDK4 
neurofibroma criteria for NF
1 plexiform neurofibroma or 2 other neurofibromas
freckling in NF?
axillary or inguinal freckling
eye manifestations in NF
lisch nodules or optic pathway tumor
main tumor in NF2
bilateral vestibular schwannoma
other tumors in NF2
meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
cancer is a somatic mosaicism
occurs in a single cell that proliferates to produce other cancers
Boveri's hypothesis
all tumors have abnormal genes/chromosomes
chromosome 8 trimosaic
preleukemia
11 del q13
Aniridia and Wilms tumor
13 delq14
retino-.pinealoblastoma, osteosarcoma
trisomy 21
acute leukemia
turner syndrome
endometrial adenosquamous carcinoma
Klinefelter
nongonadal germ cell tumor and breast ca.
Y present in sex chromosome disorder
gonadoblasomta needs to be rules out
12;13 translocation
familial retinoblastoma
8;N
familial renal cell carcinoma
11;N
familial Wilms tumor
14;22
familial meningioma
philadelphia chromosome
9;22 transfusion, CML, bcrable
how can 9;22 be treated
gleevec
chromosome 15;17 translocation
progranulocyte leukemia, PMLRARA, sensitive to retinoic acid therapy
key age of cancer onset in li-fraumeni
45
phakomatosis
congenital malformations, tumor like tendencies, pigmentary patches, tissues of ectodermal origin, some mesodermal and endodermal origin
% of adults with NF1 with lisch nodules
100
location of NF1
17q
location of NF2
22q
eye findings in NF2
cataracts
dental pits
tuberous sclerosis
subependymal hamartomas, retinal hamartomas
tuberous sclerosis
intracardiac rhabdomyoma
tuberous sclerosis
genes of TS1 and 2
TS1 and TS2
VHL cancers
angiomas of the retina, adrenal and liver, hemangioblastoma of the spine, and erebellar, pheochromocytoma, carcinomas of the kidney, pancreas (acinar and islet cell), endolymphatic sac tumors, cysts of the kidneys, broad ligaments, pancreas, epididymis,
location of VHL
chromosome 3
POST WINE STAINS
sturge weber or KTW
hemihypertrophy, gigantism, lymphoma, lipomatosis, skull hyperostosis , renal and lung cysts, hyperpigmentation, plantar hyperkeratoses
proteus syndrome
NBCCC (GORLIN)
basal cell carcinoma, pits of palms and soles, cysts of jaws and plananges, ribanomalies, medulloblastoma, obarian fibroma or cancer
NBCCC gene
PTCH chromosome 9
cancers of cowden syndrome
thyroid, breast, colon
3 skin findings in cowden
warty papules at mucocutaneous junctions, papillomas in the mouth and tongue, palmar umbilicatous hyperkeratoses
slight short stature, long philtrum, saddlebag scrotum, widows peak, linear dimple
aarskog
constrictions, amputations, clefts
amniotic band disruption sequence
sister chromatid recombination
bloom syndrome
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