abstract
BACKGROUND:
Adrenocortical carcinoma (ACC) may rarely be a component of inherited cancer syndromes
such as Li-Fraumeni syndrome and Beckwith-Wiedemann syndrome. ACC
caused by a BRCA2 mutation has never been reported.
METHODS:
Nucleotide
sequencing of BRCA2 in lymphocyte and tumoral DNA of a 50-year-old male
who presented with an androgen-secreting ACC and a strong family
history of breast, ovarian, and pancreatic cancers.
RESULTS:
A
germline BRCA2 2 bp heterozygous deletion at nucleotide 8765
(8765delAG) leading to a frameshift mutation (p.Glu2846GlyfsX23) was
detected. Only the BRCA2 deleted allele was retained in the ACC tumoral
DNA compared with the control DNA supporting a loss of heterozygosity in
the tumor.
CONCLUSION:
This
is the first reported case of a patient with ACC associated with a
BRCA2 germline mutation. Loss of heterozygosity in ACC DNA suggests a
causal link with the BRCA2 8765delAG mutation.
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