ABSITE mutations questions and answers with solutions 2025

ABSITE mutations questions and answers with
solutions 2025
Mutation which confers a higher risk of rectal pouch cancer recurrence in FAP patients -
O O O O O O O O O O O O O O



ANSWER Codon 1309
O O O




Mutation which confers a worse prognosis w neuroblastoma - ANSWER N-myc
O O O O O O O O O O




(also neuron specific enolase, inc LDH, diploid)
O O O O O O




(Tx: neoadj doxorubicin, rsxn)
O O O




Mutation associated with: O O




FAP - ANSWER APC gene (ch 29)
O O O O O O




Mutation associated with: O O




Diffuse type gastric cancer - ANSWER CDH1 (prophylactic gastrectomy age 18-40)
O O O O O O O O O O




Mutation associated with: O O




Lynch syndrome - ANSWER SMAD4
O O O O




Mgmt of patient w CDH-1 mutation - ANSWER High risk of diffuse type gastric cancer -
O O O O O O O O O O O O O O O



prophylactic gastrectomy @ age 18-40
O O O O O




Mutation in Li Fraumeni (childhood sarcoma, breast ca, brain tumor, leukemia, adrenal ca) -
O O O O O O O O O O O O O



ANSWER p53
O O O




(ch 17, involved in cell cycle arrest (normal gene induces cell cycle arrest and apoptosis. Abnorm
O O O O O O O O O O O O O O O



al gene allows unrestrained cell growth)
O O O O O

, Genes associated w colon cancer - ANSWER APC (MC, ch5, initial step in ca dev, FAP)
O O O O O O O O O O O O O O O




DCC

p53

K-ras



Gene involved in the initial step of dev of colon cancer - ANSWER APC (ch5, MC, FAP)
O O O O O O O O O O O O O O O O




MC gene defect in colon CA - ANSWER APC (ch5, initial step in colon ca, FAP)
O O O O O O O O O O O O O O O




Colon cancer mutation predictive of poor response to chemo - ANSWER kras
O O O O O O O O O O O




Syndrome w MutL homolog 1 (MLH-1)
O O O O O




a) tx if colon ca
O O O O




b) tx if rectal ca - ANSWER Lynch syndrome
O O O O O O O O




a) total abdominal colectomy w ileorectal anastomosis -
O O O O O O O



need annual proctoscopy due to risk of metachronous lesions
O O O O O O O O O




b) total proctocolectomy w ileal pouch anal anastomosis or end ileostomy)
O O O O O O O O O O




Mutations seen w Lynch syndrome - ANSWER MLH1
O O O O O O O




MSH2

PMS2

MSH6



What is the protein function of the following gene?
O O O O O O O O




a) BRCA1 - ANSWER Complexes with RNA polymerase in transcription
O O O O O O O O O