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...

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Detalles Bibliográficos
Autores principales: Grant, Robert C, Al-Sukhni, Wigdan, Borgida, Ayelet E, Holter, Spring, Kanji, Zaheer S, McPherson, Treasa, Whelan, Emily, Serra, Stefano, Trinh, Quang M, Peltekova, Vanya, Stein, Lincoln D, McPherson, John D, Gallinger, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639869/
https://www.ncbi.nlm.nih.gov/pubmed/23561644
http://dx.doi.org/10.1186/1479-7364-7-11

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