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.
Original language | English (US) |
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Article number | 11 |
Journal | Human Genomics |
Volume | 7 |
Issue number | 1 |
DOIs | |
State | Published - 2013 |
Externally published | Yes |
Keywords
- Carcinogenesis
- Genetic counseling
- Germline variants
- Hereditary cancer
- Pancreas cancer
ASJC Scopus subject areas
- Molecular Medicine
- Molecular Biology
- Genetics
- Drug Discovery