ATM mutations in patients with hereditary pancreatic cancer.

Cancer Discovery
Nicholas J RobertsAlison P Klein

Abstract

Pancreatic cancers are the fourth most-common cause of cancer-related deaths in the Western world, with >200,000 cases reported in 2010. Although up to 10% of these cases occur in familial patterns, the hereditary basis for predisposition in the vast majority of affected families is unknown. We used next-generation sequencing, including whole-genome and whole-exome analyses, and identified heterozygous, constitutional, ataxia telangiectasia mutated (ATM) gene mutations in 2 kindreds with familial pancreatic cancer. Mutations segregated with disease in both kindreds and tumor analysis demonstrated LOH of the wild-type allele. By using sequence analysis of an additional 166 familial pancreatic cancer probands, we identified 4 additional patients with deleterious mutations in the ATM gene, whereas we identified no deleterious mutations in 190 spouse controls (P = 0.046). When we considered only the mostly severely affected families with 3 or more pancreatic cancer cases, 4 deleterious mutations were found in 87 families (P = 0.009). Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition. The genes responsible for the majority of cases of familial pancreatic ductal aden...Continue Reading

References

May 21, 1987·The New England Journal of Medicine·M SwiftC L Chase
Mar 1, 1997·Nature Genetics·M G FitzGeraldD A Haber
Feb 5, 1999·BMJ : British Medical Journal·M Swift, Y Su
May 20, 1999·American Journal of Human Genetics·S N TeraokaP Concannon
May 19, 2000·American Journal of Medical Genetics·A Li, M Swift
Jun 19, 2001·International Journal of Cancer. Journal International Du Cancer·B Geoffroy-PerezN Andrieu
Sep 29, 2005·Journal of Clinical Pathology·A M R Taylor, P J Byrd
Apr 15, 2006·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Gloria M PetersenAlison P Klein
Sep 9, 2006·Science·Tobias SjöblomVictor E Velculescu
Oct 25, 2006·Breast Cancer Research and Treatment·Jana ProkopcovaPetr Pohlreich
Sep 25, 2008·Nature Reviews. Molecular Cell Biology·Martin F Lavin
Apr 8, 2009·Genome Medicine·Peter D StensonDavid N Cooper
Jun 26, 2009·The New England Journal of Medicine·Peter C FongJohann S de Bono
Jan 14, 2010·Journal of the National Cancer Institute·Kieran A BruneAlison P Klein
Aug 13, 2011·Nature·Alice H BergerPier Paolo Pandolfi

❮ Previous
Next ❯

Citations

Feb 10, 2018·Nature Communications·Alison P KleinLaufey T Amundadottir
Feb 19, 2019·Médecine sciences : M/S·Odile Cohen-Haguenauer
Mar 19, 2019·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Toshiya AbeMichael Goggins
Dec 12, 2012·Nature Reviews. Cancer·Alison P Klein
May 18, 2019·American Society of Clinical Oncology Educational Book·Robert Pilarski
Oct 30, 2012·Nature·Andrew V BiankinSean M Grimmond
Jun 18, 2019·Pancreas·Gong-Qing ShenGareth Morris-Stiff
Oct 13, 2012·Advances in Anatomic Pathology·Oliver G McDonaldRalph H Hruban
Dec 1, 2012·Science Translational Medicine·Rebecca J LearyVictor E Velculescu
Aug 21, 2013·International Journal of Colorectal Disease·Volker FendrichDetlef K Bartsch
Aug 30, 2014·World Journal of Gastroenterology : WJG·Andrew E BeckerAimee L Lucas
Aug 26, 2014·World Journal of Gastroenterology : WJG·Paola Ghiorzo
Aug 3, 2017·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Koji ShindoMichael Goggins
Sep 16, 2017·Advances in Anatomic Pathology·Matthäus FelsensteinLaura D Wood
Aug 16, 2016·Pancreas·Mark Steven MillerJo Ann S Rinaudo
Mar 19, 2020·Cancers·Nicholas R JetteSusan P Lees-Miller
Oct 27, 2017·Oncotarget·Rille PihlakMairéad G McNamara
Oct 13, 2016·Oncotarget·Erina TakaiToru Furukawa
Apr 4, 2020·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Nadine M TungDana Zakalik
Nov 29, 2012·The Cancer Journal·Sheila SolomonDavid C Whitcomb
Jul 10, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Danielle HutchingsRalph H Hruban
Dec 5, 2012·Hereditary Cancer in Clinical Practice·Grzegorz KurzawskiRodney J Scott
Dec 20, 2017·Expert Review of Anticancer Therapy·Anteneh A TesfayePhilip A Philip
Sep 21, 2019·Nature Reviews. Disease Primers·A Malcolm R TaylorGrant S Stewart
Feb 28, 2017·International Journal of Cancer. Journal International Du Cancer·Bin ZhouHan-Xiang Zhan
May 11, 2013·Journal of Hepato-biliary-pancreatic Sciences·Mark J CowleyAndrew V Biankin
Nov 28, 2013·Annual Review of Medicine·Juliann Chmielecki, Matthew Meyerson
Jan 22, 2014·The Cancer Journal·Robert W Cowan, Anirban Maitra
Feb 22, 2014·Cell Death & Disease·R Blum, Y Kloog
Sep 23, 2014·Carcinogenesis·Jason W HoskinsLaufey T Amundadottir
May 6, 2015·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Spring HolterSteven Gallinger

❮ Previous
Next ❯

Related Concepts

Related Feeds

Carcinoma, Ductal

Ductal carcinoma is a malignant neoplasm involving the ductal systems of any of a number of organs, such as the mammary glands, pancreas, prostate or lacrimal gland. Discover the latest research on ductal carcinoma here.

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Related Papers

Cancer Discovery
Janine L Bakker, Johan P de Winter
The Surgical Clinics of North America
Johan Hansson
Journal of the National Cancer Institute
S D IsaacsP C Walsh
World Journal of Gastroenterology : WJG
Paola Ghiorzo
© 2021 Meta ULC. All rights reserved