Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
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.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2013 |
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Erschienen: |
2013 |
Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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Enthalten in: |
Human genomics - 7(2013) vom: 05. Apr., Seite 11 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Grant, Robert C [VerfasserIn] |
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Links: |
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Anmerkungen: |
Date Completed 26.11.2013 Date Revised 21.03.2022 published: Electronic Citation Status MEDLINE |
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doi: |
10.1186/1479-7364-7-11 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM226442764 |
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520 | |a 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 | ||
650 | 4 | |a Journal Article | |
650 | 4 | |a Research Support, N.I.H., Extramural | |
650 | 4 | |a Research Support, Non-U.S. Gov't | |
650 | 7 | |a Codon, Nonsense |2 NLM | |
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650 | 7 | |a Nuclear Proteins |2 NLM | |
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700 | 1 | |a Al-Sukhni, Wigdan |e verfasserin |4 aut | |
700 | 1 | |a Borgida, Ayelet E |e verfasserin |4 aut | |
700 | 1 | |a Holter, Spring |e verfasserin |4 aut | |
700 | 1 | |a Kanji, Zaheer S |e verfasserin |4 aut | |
700 | 1 | |a McPherson, Treasa |e verfasserin |4 aut | |
700 | 1 | |a Whelan, Emily |e verfasserin |4 aut | |
700 | 1 | |a Serra, Stefano |e verfasserin |4 aut | |
700 | 1 | |a Trinh, Quang M |e verfasserin |4 aut | |
700 | 1 | |a Peltekova, Vanya |e verfasserin |4 aut | |
700 | 1 | |a Stein, Lincoln D |e verfasserin |4 aut | |
700 | 1 | |a McPherson, John D |e verfasserin |4 aut | |
700 | 1 | |a Gallinger, Steven |e verfasserin |4 aut | |
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