Differential analysis of mutations in the Jewish population and their implications for diseases

Genetics Research
Yaron EinhornNoam Shomron

Abstract

Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian). We targeted American College of Medical Genetics incidental finding recommended genes and the Catalogue of Somatic Mutations in Cancer (COSMIC) germline cancer-related genes. We identified previously known disease-causing variants and discovered potentially deleterious variants in known disease-causing genes that are population specific or substantially more prevalent in the AJP, such as in the ATP and HGFAC genes associated with colorectal cancer and pancreatic cancer, respectively. Additionally, we tested the advantage of utilizing the database of the AJP when assigning pathogenicity to rare variants of independent whole-exome sequencing data of 49 Ashkenazi Jew early-...Continue Reading

References

Nov 1, 1994·Journal of Medical Genetics·B Z GartyY L Danon
May 15, 1997·The New England Journal of Medicine·J P StruewingM A Tucker
Sep 19, 2003·American Journal of Human Genetics·Doron M BeharMichael E Weale
Jun 23, 2004·American Journal of Human Genetics·Montgomery Slatkin
Nov 2, 2004·Familial Cancer·David I Kutler, Arleen D Auerbach
Oct 29, 2005·Nature·UNKNOWN International HapMap Consortium
Jan 27, 2006·The New England Journal of Medicine·Laurie J OzeliusSusan B Bressman
May 27, 2006·Molecular Systems Biology·G M Church
Aug 19, 2006·Human Mutation·Rachel RobinsonPhilip Hopkins
Sep 26, 2006·Oncogene·C G Mathew
May 21, 2009·Annual Review of Genomics and Human Genetics·Guy RosnerAvi Orr-Urtreger
Nov 20, 2009·Breast Cancer Research and Treatment·Marijke WasielewskiMieke Schutte
Dec 24, 2009·Journal of the National Cancer Institute·Laura BagliettoMark A Jenkins
May 21, 2010·The New England Journal of Medicine·Alan D D'Andrea
Aug 28, 2010·Proceedings of the National Academy of Sciences of the United States of America·Steven M BrayStephen T Warren
Jan 17, 2012·American Journal of Human Genetics·Peter M VisscherJian Yang
Nov 2, 2012·The Journal of Clinical Investigation·Joel T HaasRobert V Farese
Nov 7, 2012·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Jan 3, 2013·Annals of Neurology·Yi-Chung LeeBing-Wen Soong
Feb 26, 2013·International Journal of Cancer. Journal International Du Cancer·K Paszkowska-SzczurT Dębniak
Mar 21, 2013·Breast Cancer Research : BCR·Aung Ko WinMark A Jenkins
Apr 4, 2013·European Journal of Human Genetics : EJHG·Alina HilgerMarkus Draaken
Aug 31, 2013·PLoS Genetics·Slavé PetrovskiDavid B Goldstein
Oct 10, 2013·Nature Communications·Marta D CostaMartin B Richards
Jun 2, 2014·Nature Genetics·Yufei WangChristopher I Amos
Jul 1, 2014·Nature Genetics·UNKNOWN Genome of the Netherlands Consortium
Mar 26, 2015·Nature Genetics·Daniel F GudbjartssonKari Stefansson
Apr 4, 2015·Journal of the National Cancer Institute·Manon Delahaye-SourdeixJames D McKay
Aug 22, 2015·Nature Communications·Masao NagasakiMasayuki Yamamoto
Sep 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brett BaskovichCarole Oddoux
Oct 4, 2015·Nature·UNKNOWN 1000 Genomes Project ConsortiumGonçalo R Abecasis
Nov 21, 2015·Journal of the National Cancer Institute·Huong D MeeksDavid E Goldgar
Nov 4, 2016·Cancer Discovery·Joseph VijaiKenneth Offit

❮ Previous
Next ❯

Citations

Jan 1, 2020·BMC Medical Genomics·Dvir DaharySimon Fishilevich
Feb 18, 2021·NPJ Precision Oncology·Yanhong LiuChristopher I Amos

❮ Previous
Next ❯

Methods Mentioned

BETA
Exome Sequencing

Software Mentioned

Complete Genomics
GATK
Clinvar
Genome Analysis Toolkit ( GATK )
COSMIC
VarElect
MetaLR

Related Concepts

Related Feeds

Cancer Incidence & Mortality

Cancer has emerged as a global concern due to its increase in incidence and mortality. Efforts are underway to evaluate and develop action plans to reduce the global burden of cancer. Currently, lung cancer, breast cancer and prostate cancer are the leading causes of cancer mortality. Here is the latest research on cancer incidence and mortality.