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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639869 | PMC |
| http://dx.doi.org/10.1186/1479-7364-7-11 | DOI Listing |
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