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. © 2013 Grant et al.
CITATION STYLE
Grant, R. C., Al-Sukhni, W., Borgida, A. E., Holter, S., Kanji, Z. S., McPherson, T., … Gallinger, S. (2013). Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. Human Genomics, 7(1). https://doi.org/10.1186/1479-7364-7-11
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