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We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in  ATM  with somatic loss of the variant allele. Another proband had a nonsense variant in  PALB2  with somatic loss of the variant allele. Both variants were absent in a relative with FPC. These findings question the causal mechanisms of  ATM  and  PALB2  in these families and highlight challenges in identifying the causes of familial cancer syndromes using exome sequencing.

Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer