Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic ca...
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
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 c...
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Full title
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3639869
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3639869
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ISSN
1473-9542
E-ISSN
1479-7364
DOI
10.1186/1479-7364-7-11
