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Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?
To the Editor:
A recent editorial by Axilbund1 accompanies two important studies of hereditary multiple gene panel tests conducted in patients with breast cancer (BC).2,3 In one study, by Tung et al,2 488 women with incident BC were tested with a commercial non–BC-specific 25-gene panel. Mutations were identified in 10.7%
patients, including 4.6% outside of BRCA1/2 in predominantly moderate penetrance BC genes, such as CHEK2, ATM, and BRIP1. Of interest, 4 (7.3%) mutations were in genes not associated with BC, including one mutation each in the Lynch syndrome
(LS) genes, MSH6 and PMS2. In the second study, Thompson et al3 used case-control analysis of nearly 4,000 BRCA1/2-negative BC cases and controls and showed that mutation frequency was significantly increased for just two of 18 genes (PALB2 and TP53) included on a commercial hereditary BC panel. Strikingly, the rate of mutations in controls was more than one half that
of cases (2.3% v 4.0%), and mutation
carriers were identified among controls for 12 of 18 genes. Together,
these studies demonstrate the improved
diagnostic breadth offered by panel tests, and,
yet, the high rate of mutations among control participants casts doubt
on
the power of panel tests enriched in moderate
penetrance genes to effectively distinguish between those patients who
will
develop BC from those who will not...
Michael J. Hall
Patents, Royalties, Other Intellectual Property: Shares a patent with several Fox Chase investigators for a novel method to investigate hereditary colorectal cancer genes
(Inst)
Travel, Accommodations, Expenses: PAREXEL International, Myriad Genetics
Other Relationship: Myriad Genetics, Foundation Medicine, Invitae
Elias Obeid
Consulting or Advisory Role: Merck Sharpe and Dohm
Research Funding: Myriad Genetics, Merck, Genentech, Pfizer
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