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NBME 23 Answers

nbme23/Block 3/Question#21

A 60-year-old woman comes to the physician 1 week ...

Amplification

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Per FA (pg. 636): Concerning breast cancer...

"Amplification/overexpression of estrogen/ progesterone receptors or c-erbB2 (HER2, an EGF receptor) is common; ER ⊝, PR ⊝, and HER2/neu ⊝ form more aggressive."

sympathetikey  FA 2019 +1  
meningitis  Why others not it: Anticipation: Trinucleotide repeats; CAG (Huntington), CTG (Myotonic dyst), GAA (ataxia telangiectasia), CGG(Fragile X) Chromosomal rearrangement: Many but can think of Trisomy 21, BCR-Abl, etc Imprinting: Prader willi, angelman Loss of heterozygosity: loss of a single parent's contribution to part of its genome. A common occurrence in cancer, it often indicates the presence of tumor suppressor gene in the lost region. +1  
kai  trinucleotide repeats are not associated with breast cancer Neither are chromosomal rearrangements BRCA1,2 tumor supressor genes are associated with breast cancer, which is why I chose E, but I guess I should have bought the new First Aid.......... +  
charcot_bouchard  GAA is Freidrich Ataxia +1  




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submitted by sweetmed(44),

Gene amplification is an increase in the number of copies of a gene without a proportional increase in other genes. This can result from duplication of a region of DNA that contains a gene through errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements.