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

ABSTRACT: 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.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.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.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.

SUBMITTER: El Ghorayeb N

PROVIDER: S-EPMC5023896 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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

El Ghorayeb Nada N Grunenwald Solange S Nolet Serge S Primeau Vanessa V Côté Stéphanie S Maugard Christine M CM Lacroix André A Gaboury Louis L Bourdeau Isabelle I

Medicine 20160901 36

<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>A germline BRCA2 2 bp heterozygous deletion at ...[more]

PMID: 27603373

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