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27 Cards in this Set
- Front
- Back
mendilan mut
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DOM, bilateral, early onset
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sporadic mut
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reccessive, unilateral, late onset
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breast cancer-stats
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1-12
1-3 (if someone has it under 40 in fam) 5-10% is single gene |
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DCIS
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High risk for breast cancer if untreated)
non-invasive (unless u dont treat) |
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LCIS
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pre-cancerous
risk for bilateral b-cancer |
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BRCA1 and BRCA2
-what kind of cancer %'s |
Hereditary Breast Ovarian
50% of herditary b-cancer 90% of familiar segregaton |
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TP53
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Li-Fraumeni Syndrome
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PTEN
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Cowden Syndrome
papllia around mouf |
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Peutz Jeghers Syndrome-gene
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STK11
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Bilateral breast cancer is a slight predictor for
same with male b-cancer |
BRCA1 and BRCA2 mutations
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Chrome for BRCA1
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17
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Chome for BRAC2
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13
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Men b-cancer?
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BRAC2
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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 |
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Gene test results (Positive)
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you def got that shit
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Gene test results (Variant of uncertain significance
) |
got some missense...dont know if its one of the problems
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Gene test (negative-Known family istory)
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TRUE negative (but your chances dont go to zero)
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Gene test (negative-unknown family istory)
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Mutation unknown within the family – this results is considered as an uninformative result, remember the testing does not detect 100% of mutations
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colon rectal cancer-stats
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3rd most common w/ men
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RF for CRC
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adenomas - beign tumors
High-fat, low-fiber diet Aging |
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FAP
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1%
more then 100 polyps AD |
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FAP gene
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APC
5q chrom |
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FAP - polyps
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w/ 100 polyps
90% penetrances Upper GI probs too untreatd poly 100% cancer |
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HPNCC - LYNCH syndrome
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5%
early onset 20's FEW POLYPS right side colon damage |
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HPNCC - GENE
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MMR - mismatch repair
or TSG's MSH2, MLH1, MSH6, PMS2 |
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microsat check for which disorder
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HPNCC
95% multiple loci |
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Peutz-Jeghers syndrome (PJS)
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Hamartomatous (benign tumor like) polyps of GI tract as early as 1st decade
small intestines Mucocutaneous hyperpigmentation - on lips |