Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic can...
Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
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London: BioMed Central Ltd
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Language
English
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London: BioMed Central Ltd
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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 qu...
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Full title
Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer
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TN_cdi_proquest_journals_1802505564
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1802505564
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ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/1479-7364-7-11
