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BioMed Central, Human Genomics, 1(7), p. 11

DOI: 10.1186/1479-7364-7-11

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Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

Journal article published in 2013 by Robert C. Grant, Wigdan Al-Sukhni, Ayelet E. Borgida, Spring Holter, Zaheer S. Kanji, Treasa McPherson, Emily Whelan, Stefano Serra, Quang M. Trinh ORCID, Vanya Peltekova, Lincoln D. Stein, John D. McPherson, Steven Gallinger
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.