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27 Cards in this Set

  • Front
  • Back
mendilan mut
DOM, bilateral, early onset
sporadic mut
reccessive, unilateral, late onset
breast cancer-stats
1-12
1-3 (if someone has it under 40 in fam)
5-10% is single gene
DCIS
High risk for breast cancer if untreated)

non-invasive (unless u dont treat)
LCIS
pre-cancerous
risk for bilateral b-cancer
BRCA1 and BRCA2
-what kind of cancer
%'s
Hereditary Breast Ovarian

50% of herditary b-cancer
90% of familiar segregaton

TP53
Li-Fraumeni Syndrome
PTEN
Cowden Syndrome

papllia around mouf
Peutz Jeghers Syndrome-gene
STK11
Bilateral breast cancer is a slight predictor for

same with male b-cancer
BRCA1 and BRCA2 mutations
Chrome for BRCA1
17
Chome for BRAC2
13
Men b-cancer?
BRAC2
Biallelic mutations of BRCA2 gene
casue what type of anemia
Fanconi Anemia (FA)

Microcephaly, congenital heart disease
Aplastic anemia (Bone marrow fails to produce blood cells including red an white as well as platelets)

LOCUS hertogenity
Gene test results (Positive)
you def got that shit
Gene test results (Variant of uncertain significance
)
got some missense...dont know if its one of the problems
Gene test (negative-Known family istory)
TRUE negative (but your chances dont go to zero)
Gene test (negative-unknown family istory)
Mutation unknown within the family – this results is considered as an uninformative result, remember the testing does not detect 100% of mutations
colon rectal cancer-stats
3rd most common w/ men
RF for CRC
adenomas - beign tumors
High-fat, low-fiber diet
Aging
FAP
1%
more then 100 polyps
AD
FAP gene
APC
5q chrom
FAP - polyps
w/ 100 polyps
90% penetrances

Upper GI probs too

untreatd poly 100% cancer
HPNCC - LYNCH syndrome
5%
early onset 20's
FEW POLYPS
right side colon damage
HPNCC - GENE
MMR - mismatch repair

or

TSG's
MSH2, MLH1, MSH6, PMS2
microsat check for which disorder
HPNCC
95% multiple loci
Peutz-Jeghers syndrome (PJS)
Hamartomatous (benign tumor like) polyps of GI tract as early as 1st decade

small intestines

Mucocutaneous hyperpigmentation - on lips