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Old 08-23-2012
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Question multiple cancers...diagnosis?

q) a 40 yr old woman presents to her gynecologist after finding a lump in her breast during monthly self-examination.her older sister,who just turned 45 was recently diagnosed with breast cancer.. mammography findings confrirms presence of 3.2 cm density with irregular margins in right breast..the gynecologist offers a biopsy and the mass turned out to be malignant..the pt. is in distraught to learn yet another cancer diagnosis in her family..she herself treated 18 months earlier for adrenocortical cancer. additionally,she ha younger brother 29 yr old diagnosed with ALL as a child and a 37 yr old sister who diagnosed with ovarian cancer 2 yrs ago..the increased susceptibility of cancers is caused by mutation in....?
a) APC
B) BRCA 1
C) RB
D) WT 1
E) P53


little explanation is beneficial.......
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Old 08-23-2012
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Ee...P53 mutation(it's a tumor suppresor gene just like Rb)
Germline mutation leads to Li fraumeni syndrome causing multiple malignancies.

Germline mutation of Rb only cause high risk of retinoblastoma and osteosarcoma
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Old 08-23-2012
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Default my answer

my answer is E) P53 - to me associated with so many malignancies that rarely indicative (at least on the exam) for 1 particular

a) APC - colon ca, endometrial ca, small bowel ca, ureter, renal, general pelvis ca. (Lynch syndrome)
B) BRCA 1 - breast ca., ovary
C) RB - retinoblastoma, chondrosarcoma/osteosarcoma
D) WT 1 - Wilms tumor
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Old 08-23-2012
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Confused between (B) & (E)
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Old 08-23-2012
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Post E is the answer

yeah the answer is e) p53.......i had little confusion when i read it....as the key gave the answer as RB gene.....i hope the key must be wrong....
and for B option.....BRCA 1(17 q chr.) mutation can get breast and ovarian ca...but leukemias are way too rare....
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