Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer

Robert C. Grant, Wigdan Al-Sukhni, Ayelet E. Borgida, Spring Holter, Zaheer S. Kanji, Treasa McPherson, Emily Whelan, Stefano Serra, Quang M. Trinh, Vanya Peltekova, Lincoln D. Stein, John Douglas Mcpherson, Steven Gallinger

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish (US)
Article number11
JournalHuman Genomics
Volume7
Issue number1
DOIs
StatePublished - 2013
Externally publishedYes

Keywords

  • Carcinogenesis
  • Genetic counseling
  • Germline variants
  • Hereditary cancer
  • Pancreas cancer

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery

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