Open AccessFirst case report of an adrenocortical carcinoma caused by a BRCA2 mutation
Author(s) -
Nada El Ghorayeb,
Solange Grunenwald,
Serge Nolet,
Vanessa Primeau,
Stéphanie Côté,
Christine M. Maugard,
André Lacroix,
Louis Gaboury,
Isabelle Bourdeau
Publication year - 2016
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000004756
Subject(s) - frameshift mutation , loss of heterozygosity , medicine , adrenocortical carcinoma , germline mutation , mutation , germline , cancer research , genetics , allele , biology , gene
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.