Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
Open Access
- 5 April 2013
- journal article
- Published by Springer Science and Business Media LLC in Human Genomics
- Vol. 7 (1), 11
- https://doi.org/10.1186/1479-7364-7-11
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.Keywords
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