First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.
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.


CONCLUSIONS
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.
Division of Endocrinology Department of Pathology Division of Clinical Genetics, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada.
Nada
N
El Ghorayeb
Solange
S
Grunenwald
Serge
S
Nolet
Vanessa
V
Primeau
Stéphanie
S
Côté
Christine M
CM
Maugard
André
A
Lacroix
Louis
L
Gaboury
Isabelle
I
Bourdeau
D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D018268:Adrenocortical Carcinoma / Q000235:genetics*; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree