Yvonne I. Chekaluk, MSc, MB(ASCP)

PhD Scientist, Partners Institutional Review Board

Brigham and Women’s Hospital
Department of Obstetrics and Gynecology
77 Avenue Louis Pasteur, NRB 160
Boston, MA  02115

You can find Yvonne’s profile on LinkedIn

Having spent 25 years in Human Resource Management as a Project Manager overseeing information technology implementations, Yvonne endeavored in a career change by pursuing a Masters of Science, Molecular Genetics degree.  She did her graduate research studies in Translational Medicine with Dr. David J. Kwiatkowski at Brigham and Women’s Hospital / Harvard Medical School where she investigated human Transitional Cell Carcinomas and correlated these findings with T-stage.  Yvonne continued her genetics career at Memorial Sloan Kettering Cancer Center where she contributed to the development of the MSK-IMPACT 400-gene cancer panel and multiple CLIA -Lab genetic cancer tests.  She is a licensed New York State Department of Education, Oncology Molecular Genetics Technologist and certified by the American Society of Clinical Pathology in Molecular Genetics.  She moved to Houston, Texas where she project led lab automation at MD Anderson’s Cancer Center Molecular Diagnostic Laboratory.  Yvonne considers herself a New Englander even though she grew up in the Midwest.  Missing the East Coast and the Boston area tremendously, she recently moved back and accepted the Project Manager position with Dr. Cynthia Morton overseeing the SEQaBOO (SEQuencing a Baby for an Optimal Outcome) clinical research study.  The study will perform whole genome sequencing to identify the full spectrum of pathogenic variations in neonates with hearing loss.  The study hopes to integrate genomic sequencing results with standard care of management for infants with hearing loss and ascertain its clinical impact through annual surveys that will explore general health and speech and language development.

Yvonne is excited to be back in Boston and in the academic world again where she feels she can make a difference in personalized medicine!


Guest Lecturer, Kitasato School of Medicine, Toyko, Japan. Next “Gen” Sequencing; The Role of TSC2 in LAM, August, 2011


Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing, publication date May 19, 2017, BMC Medical Genomics

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development, PLOS Genetics August 8, 2016

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing’, PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637

BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line, PMC4382119. The Journal of Molecular Diagnostics, jmd.amjpathol.org April 2015

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 1;24(7):1836-42. doi: 10.1093/hmg/ddu597

Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload, Cardiovasc Pathol. 2015 Mar-Apr;24(2):80-93. doi: 10.1016/j.carpath.2014.10.005

Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res. 2014 Apr 1;20(7):1873-83. doi: 10.1158/1078-0432.CCR-13-0759

Robust detection of whole and partial gene copy number aberrations (CNA) in targeted capture-based sequence data. Journal of Molecular Diagnostics, Volume 16, Issue 6, p764-765, published 2014-11-01

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Mol Genet. 2014 Apr 15;23 (8):2023-9. doi: 10.1093/hmg/ddt597

Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS One. 2013 Apr 4;8(4):e60927. doi:10.1371/journal.pone.

TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol. 2013 May; 230(1): 17-27. doi: 10.1002/path.4176. Epub 2013 Mar 21 May 2013

 Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2013 Mar 15; 187(6): 663–665. doi: 10.1164

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. E1070–E1079 | PNAS | November 8, 2011 | vol. 108 | no. 45 

Bladder Cancer Genomics: Mutations, Deletions, and Amplifications. Graduate Theses Paper 76. http://scholarworks.umb.edu/masters_theses/76 December 2011


Comprehensive genetic analysis of renal angiomyolipoma and lymphangioleiomyomatosis reveals consistent bi-allelic inactivation of TSC2/TSC1 and very few other somatic mutations. Brigham and Women’s Hospital, BRI Lung Center Research Symposium, May 6, 2016

Automation of Post-Cycle Sequencing. MD Anderson Cancer Center Celebration of Performance Improvement Session, October, 2015

Detection of aberrant splicing products in HMeso01A harboring the BAP1 c.2054 A>T (p.E685V) mutation. Memorial Sloan Kettering Cancer Center, Cancer Biology and Genetics (CBG) Program, 2015 March 2014

Validation of a Targeted, Hybrid Capture-based Sequencing Panel (MSK-IMPACT) for the Comprehensive Detection of Mutations in Cancer Predisposition Genes and Significant Prevalence. 2015 ClinGen/DECIPHER Meeting, Conference, May 27 2015, Washington D.C. May 2015

Robust detection of whole and partial gene copy number aberrations (CNA) in targeted capture-based sequence data. AMP 2014 Annual Meeting and 20th Anniversary Celebration, National Harbor, MD, November 12-15, 2014

Molecular pathogenesis of Tuberous Sclerosis Complex (TSC) in patients with no mutation identified in TSC1 or TSC2. American Society of Human Genetics Conference, San Diego, CA, October 18-22, 2014 October 2014

LAM genome analysis reveals that TSC2 mutations appear universal while other mutation events are rare, suggesting that TSC2 mutation is the only pathogenic event needed for LAM development. The LAM Foundation, HMS, Boston, MA, February 2013

Novel microfluidic technology and biology based approach for isolation and characterization of circulating cells from the peripheral blood of patients with Lymphangioleiomyomatosis. AACR 102nd Annual Meeting 2001, April 2-6, 2011, Orlando, FL, doi: 10.1158/1538-7445.AM2011-1571, Cancer Res April 15, 2011 71

Genetic studies on AML and LAM indicate consistent involvement of TSC2. LAM Treatment Alliance, Harvard Medical School, March 24, 2011

Production and Purification of Fragments to Study Protein Partnerships. National IDeA Symposium of Biomedical Research Excellence, Washington DC, August 5, 2008, Grant # P20, RR016457 from NCRR/NIH August 2008