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pparalpha
Li-Fraunemi syndrome = SBLA (sarcoma, breast, leukemia, adrenal gland syndrome) and occurs because of an autosomal dominant inherited mutation of p53
APC: linked to FAP (colorectal cancer)
RET: linked to papillary thyroid cancer, MEN 2A, MEN 2B
RB1: retinoblastoma
+11
privatejoker
The thing that threw me off was that the only connection in her FH to the above SBLA reference was the mention of a paternal cousin with adrenocortical carcinoma. The other two mentioned had brain cancers, which seem completely outside the scope of the above mnemonic. Then again, as mentioned elsewhere, I suppose the best policy on these is just to rule out the absolute wrong answers.
I swear, the NBME is lying when they tell us to choose the "best" answer on some of these. What they actually mean in practice is for us to choose the least shitty.
+17
dbg
^ this guy cracked the code. nbme ur doomed.
+10
cienfuegos
@privatejoker: I feel the pain. Quick FYI: UW includes brain in the associated tumors.
+3
hyperfukus
we can just make her thing SBBLA and hopefully never get this wrong again
+9
jakeperalta
@privatejoker: according to UW, Li Fraumeni includes SABBB(sarcoma/adrenocortical/breast/brain/blood(leukemia))
+2
ac3
side note: RB1 = retinoblastoma with an increased risk of osteosarcoma
+
lukin4answer
TP53 associated with SBLA + Brain tumor + Anaplastic Thyroid ca + Transitional cell ca.
-UW
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an1
Li Fraumeni in sketchy path includes brain, breast, bone and adrenals
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kevin
leukemia not lung, sorry
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submitted by โneonem(630)
Sounds like a case of Li-Fraumeni syndrome - since p53 is a tumor suppressor for a bunch of cell types, mutations in this gene (as in LFS) result in a myriad of familial tumor types.