Page 101 - ASHG 2012 Annual Meeting Program Guide

90
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
(
SESSION 33, continued)
130
/12:00
M694V
mutation in Armenian-Americans:
A ten-year retrospective study of
MEFV
mutations
testing for familial Mediterranean fever at UCLA.
F. S. Ong, H. Vakil, Y. Xue, K. H. Shah, J. Z. Kuo, K. E.
Bernstein, D. L. Rimoin, J. I. Rotter, J. L. Deignan, K.
Das, W. W. Grody.
131
/12:15
Clinical features of individuals with
Floating-Harbor syndrome due to mutations in
SRCAP
.
S. M. Nikkel, A. Dauber, R. L. Hood, M.
Feingold, M. Connolly, M. J. M. Nowaczyk, S. M.
White, A. Afenjar, F. Brancati, I. Cordeiro, A. Destrée,
F. Forzano, E. M. Honey, D. Héron, C. M. Jacob, S.
G. Kant, U. Kini, E. Kirk, E. Lemos Silveira-Lucas, L.
Silveira Lucas, L. Audi Delaney, B. Santos da Cunha,
V. Mericq, K. Pope, S. Price, J. M. Wit, D. E. Bulman,
K. M. Boycott, FORGE Canada Consortium.
132
/12:30
A prospective natural history study of
DICER1
-
related familial pleuropulmonary blastoma
syndrome shows incomplete penetrance, pleiotropy
and variable expressivity.
D. R. Stewart, L. Doros,
G. Glenn, A. Bauer, G. Williams, A. Carr, J. Ivanovich,
R. Kase, L. Harney, K. A. Schultz, C. P. Kratz, L. P.
Dehner, D. A. Hill, Y. Messinger.
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 34 – Cancer Genetics II: Clinical Translation
Room 124, Lower Level North, Moscone Center
Moderators
:
Robert Pilarski, The Ohio State Univ.;
Stephen Thibodeau, Mayo Clin.
133
/10:30
Clinical implementation of a cancer care
model based on comprehensive molecular profiling
of tumor-normal pairs.
J. C. Taylor, K. Kaur, S.
Henderson, E. Domingo, A. Cutts, J. Woods, C.
Motley, B. Dougherty, M. Middleton, B. Hassan, Y.
Wang, E. Beasley, M. Naley, I. Tomlinson, A. Schuh,
TSB LifeTech Consortium.
134
/10:45
Clinical implementation of single
nucleotide polymorphism microarrays in pediatric
cancer and non-malignant hematologic disorders.
X. Lu, Y. Zhao, S. Gurusiddappa, C. Lau, J. Shohet,
P. Rao, K. Rabin, S. E. Plon.
135
/11:00
A prospective clinical trial to evaluate
DNA sequencing as a diagnostic tool to guide
cancer therapy.
A. M. K. Brown, P. L. Bedard, B. Tran,
J. Dancey, E. Winquist, S. J. Hotte, G. Goss, S. Welch,
T. Zhang, L. Stein, V. Ferretti, S. Watt, W. Jiao, K. Ng,
P. Shaw, B. G. Neel, T. J. Hudson, J. D. McPherson, S.
Kamel-Reid, L. Siu.
136
/11:15
Whole genome sequencing of a highly
aggressive melanoma identified
BRAFL597
mutants associated with sensitivity to MEK
inhibitors.
Z. Zhao, K. B. Dahlman, J. Xia, H.
Hutchinson, C. Ng, D. Hucks, P. Jia, M. Atefi, Z. Su,
S. Branch, P. Lyle, D. J. Hicks, V. Bozon, J. A. Glaspy,
J. L. Netterville, C. L. Vnencak-Jones, J. Sosman,
A. Ribas, W. Pao.
137
/11:30
Identification of novel mechanisms of
drug resistance in
BRCA1
-
deficient cancer by
exome and RNA sequencing.
K. K. Dhillon,
T. Taniguchi.
138
/11:45
BRCA1
and
BRCA2
mutational spectrum
in a normal population: Implications for clinical
diagnostics and incidental findings.
E. Ruark, K.
W. Lau, A. Renwick, E. Ramsay, F. Zhang, S. Seal, N.
Rahman.
139
/12:00
Targeted re-sequencing of 10 ovarian
cancer candidate genes in 2,240 cases and 355
controls.
H. Song, M. Cieck, J. Cunningham, B.
Fridley, E. Dicks, P. Harrington, S. Ramus, S. Gayther,
E. Goode, P. Pharoah.
140
/12:15
Enhanced detection of low-level mosaic
mutations in
RB1
gene in sporadic unilateral RB by
ion torrent semiconductor sequencing: Risk of
second cancer.
Z. Chen, S. Walther, K. Moran,
D. Gerhart, T. Ganguly, A. Ganguly.