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RNA testing increases the diagnostic yield in an unresolved cohort of patients with paired Lynch Syndrome DNA testing

Oncology

Date:
Sunday, Nov 3, 2019 8:00am – 12:00pm

Conference:
CGA-IGC 2019

Authors:
Kelly Fulk, Holly Laduca, Rachid Karam, PhD, Felicia Hernandez, Noriko Yokoyama, Kyle Allen, Tyler Landrith, Virginia Speare, Elizabeth Chao, Carla Mason, Beth Souders, Blair R. Conner, Ritter Hagadorn, Bhuvan Molparia, Ashley Cass, Rebekah Krukenberg

Collaborators:

Community Health Network
University of California, Irvine
Impact of multigene panel testing on medical management: Preliminary results of a pre- and post-genetic testing clinician survey

Oncology

Date:
Sunday, Nov 3, 2019 8:00am – 12:00pm

Conference:
CGA-IGC 2019

Authors:
Kirsten Blanco, Holly Laduca, Mary Helen Black, Kyle Allen, Jill Dolinsky, Carolyn Horton

Collaborators:

Apex Systems

Abstract
Possible founder mutation in CDKN2A in the Latino population

Oncology

Date:
Sunday, Nov 3, 2019 8:00am – 12:00pm

Conference:
CGA-IGC 2019

Authors:
Marcy Richardson, Kathryn A. Mraz

Collaborators:

University of Texas Health Science Center at Houston

Abstract
Accounting for splicing effects in known missense variants improves in silico prediction of deleterious effect

Oncology

Session:
#1454

Date:
Friday, Oct 18, 2019 1:00pm – 3:00pm

Conference:
—

Authors:
Mary Helen Black, Shuwei Li, Dajun Qian, Jacob Clifford, Alexander Tchourbanov, Hsiao-Mei Lu, Zhanyang Zhu

Abstract
RNA-seq identifies structural variants in hereditary cancer genes

Oncology

Session:
#2449

Date:
Thursday, Oct 17, 2019 2:00pm – 4:00pm

Conference:
—

Authors:
Marcy Richardson, Felicia Hernandez, Tyler Landrith, Brigette Tippin Davis, Rachid Karam, PhD, Blair R. Conner, T. McBride

Abstract
Leveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes

Oncology

Session:
#990

Date:
Wednesday, Oct 16, 2019 2:00pm – 4:00pm

Conference:
—

Authors:
Shuwei Li, Stephanie Gutierrez, Tina Pesaran, MA, MS, CGC, Holly Laduca, Elizabeth Chao, Mary Helen Black, Dajun Qian, Bryony A. Thompson, Hsiao-Mei Lu

Abstract
Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients

Oncology

Session:
#1514

Date:
Monday, Jun 3, 2019 1:15pm – 4:15pm

Conference:
—

Authors:
Holly Laduca, Nancy Niguidula, Stephanie Gutierrez, Amal Yussuf, Brigette Tippin Davis, Elizabeth Chao, Tina Pesaran, MA, MS, CGC, Jill Dolinsky, Fergus Couch, Siddhartha Yadav, Eric C. Polley, Hermela Shimelis, Chunling Hu, Jenna Lilyquist, Jie Na, Kun Y Lee, Steven N. Hart, David E. Goldgar
Neurodevelopmental defects due to haploinsufficiency of KMT2E

Clinical Genomics

Date:
Thursday, May 30, 2019 5:15pm – 6:45pm

Conference:
—

Authors:
Deepali Shinde, Sha Tang, Kelly Radtke, Samin Sajan, Rachel Saunders, Vikas Bhambhani, Sarah L. Dugan

Collaborators:

Children's Hospital and Clinics of Minnesota
University of Utah
Neurodevelopmental defects due to haploinsufficiency of KMT2E

Clinical Genomics

Date:
Wednesday, May 29, 2019 8:00am – 12:00pm

Conference:
—

Authors:
Samin Sajan

Poster
Exome secondary findings identify an incidental FH prevalence rate of 1 in 500

Clinical Genomics

Session:
#354

Date:
Saturday, May 18, 2019 11:10am – 11:25am

Conference:
—

Authors:
Kirsten Blanco, Tami Johnston, Jill Dolinsky, Andy Castro, Benjamin Feldmann, Zöe Powis

… …

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RNA testing increases the diagnostic yield in an unresolved cohort of patients with paired Lynch Syndrome DNA testing

Impact of multigene panel testing on medical management: Preliminary results of a pre- and post-genetic testing clinician survey

Possible founder mutation in CDKN2A in the Latino population

Accounting for splicing effects in known missense variants improves in silico prediction of deleterious effect

RNA-seq identifies structural variants in hereditary cancer genes

Leveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes

Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients

Neurodevelopmental defects due to haploinsufficiency of KMT2E

Neurodevelopmental defects due to haploinsufficiency of KMT2E

Exome secondary findings identify an incidental FH prevalence rate of 1 in 500

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