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

doi:10.1186/1479-7364-7-11

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 journal › Article › peer-review

25 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 language	English (US)
Article number	11
Journal	Human Genomics
Volume	7
Issue number	1
DOIs	https://doi.org/10.1186/1479-7364-7-11
State	Published - 2013
Externally published	Yes

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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Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. / 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 Douglas; Gallinger, Steven.

In: Human Genomics, Vol. 7, No. 1, 11, 2013.

Research output: Contribution to journal › Article › peer-review

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 Douglas ; Gallinger, Steven. / Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. In: Human Genomics. 2013 ; Vol. 7, No. 1.

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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.",

keywords = "Carcinogenesis, Genetic counseling, Germline variants, Hereditary cancer, Pancreas cancer",

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

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AU - Borgida, Ayelet E.

AU - Holter, Spring

AU - Kanji, Zaheer S.

AU - McPherson, Treasa

AU - Whelan, Emily

AU - Serra, Stefano

AU - Trinh, Quang M.

AU - Peltekova, Vanya

AU - Stein, Lincoln D.

AU - Mcpherson, John Douglas

AU - Gallinger, Steven

PY - 2013

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N2 - 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.

AB - 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.

KW - Carcinogenesis

KW - Genetic counseling

KW - Germline variants

KW - Hereditary cancer

KW - Pancreas cancer

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

Abstract

Keywords

ASJC Scopus subject areas

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