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Hum Genomics. 2013 Apr 5;7:11. doi: 10.1186/1479-7364-7-11.

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

Author information

1
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada.

Abstract

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.

PMID:
23561644
PMCID:
PMC3639869
DOI:
10.1186/1479-7364-7-11
[Indexed for MEDLINE]
Free PMC Article

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