期刊
HUMAN GENOMICS
卷 7, 期 -, 页码 -出版社
BIOMED CENTRAL LTD
DOI: 10.1186/1479-7364-7-11
关键词
Hereditary cancer; Pancreas cancer; Germline variants; Genetic counseling; Carcinogenesis
资金
- Pancreatic Cancer Genetic Epidemiology (PACGENE) consortium (National Institutes of Health) [5R01CA097075-09]
- Pancreatic Cancer Canada Foundation
- W. Garfield Weston Foundation
- Ministry of Economic Development and Innovation, Ontario Canada
- NATIONAL CANCER INSTITUTE [R01CA097075] Funding Source: NIH RePORTER
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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