Page 267 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
T SNV calls using RNA-seq complements Exome-
seq variant calling in tumor cell lines.
S. Wong, P. Ebert,
S. Bray, J. Calley, T. Barber.
F Novel genetic and epigenetic alterations in the
von Hippel-Lindau gene in a cohort of sporadic renal
cell carcinoma patients from Pakistan.
A. Abid, S. Ajaz,
S. Firasat, S. Shahid, A. Shehzad, G. Sultan, R. Mohsin, A.
Hashmi, M. Mubarak, S. A. A. Naqvi, S. A. H. Rizvi, S. Q.
Mehdi, S. Khaliq.
W Exome sequencing of cancer cell lines
uncovers mutations not reported in commonly used
COSMIC and CCLE databases.
S. Bray, K. Yu, Y.
Webster, S. Wong, Y. Yue, I. Wulur, T. Barber.
T Hierarchical models of mutational recurrence
and allelic burden in prostate cancer.
R. Cowper, N.
Sinnott-Armstrong, M. Lupien, M. Kellis.
F Genomic characterization of invasive cervical
cancer in Guatemala and Venezuela: Common
activation of the PIK3CA pathway.
M. Dean, E.
Gharzouzi, E. Alvirez-Freites, G. Villagran, G. Calabrese, J.
Sawitzke, H. Lou, J. Boland, S. Chanock, M. Yeager.
W Whole genome sequencing of high-grade
treatment-naïve prostate tumors.
B. J. Decker, D. M.
Karyadi, E. Karlins, L. S. Tillmans, S. N. Thibodeau, E. A.
T Genomic landscape of 2 gastric cancer cases.
D. Esser, N. Holze, J. Haag, S. Krüger, V. Warneke, S.
Schreiber, C. Röcken, P. Rosenstiel.
F The application of next-generation sequencing
for mutation analysis of myeloproliferative neoplasms
patients in the state of Qatar.
Q. Fernandes, N. Al-Dewik,
Y. K. Naidu, B. Cassinat, J. J. Kiladjian, H. El Ayoubi, N.
Hammadi, G. Perkins, M. Yassin.
W Massive parallel sequencing of
Detection of deleterious mutations and variant
of unknown significance in b east cancer patients from
Colombia, South America.
L. Galeano Petro, G. Guevara
Pardo, H. Groot De Restrepo, D. Restrepo Montoya.
T Understanding the significance of individual
tumor genetic heterogeneity by developing next-
generation genetic databases as advanced analysis
B. Gottlieb, L. K. Beitel, M. Trifiro.
F Utilizing publically available NGS tumor
data to identify novel oncology targeted therapies.
D. Greenawalt, J. Bradford, M. Wappett, A. Dulak,
K. Vasudevan, K. Jacques, S. Guichard, J. Dry.
W Mutation status of p53 in head and neck
squamous cell carcinoma.
E. Gunduz, G. Nas, M. Acar,
S. Dede, K. Erdog˘ an, C. Moroski Erkul, M. Gunduz.
T Next-generation sequencing of paired drug-
sensitive and resistant cell lines identifies spectrum of
DNA changes associated with drug resistance.
P. Jia,
H. Jin, C. B. Meador, J. Xia, K. Ohashi, L. Liu, V. Pirazzoli,
K. B. Dahlman, K. Politi, F. Michor, Z. Zhao, W. Pao.
T Clinical characteristics and genotype-phenotype
correlations in a large cohort of Brazilian Li-Fraumeni
syndrome patients.
M. Achatz, C. Sagne, P. Ashton-
Prolla, V. Marcel, A. Nobrega, J. Hall, P. Hainaut.
F Identification of
in Mexican patients with inherited breast and ovarian
cancer by full-exon pyrosequencing.
R. M. Alvarez, F.
Vaca, V. Fragoso, S. Vidal, L. A. Herrera, D. Cantu, J. E.
Bargallo, A. Mohar, C. G. Perez.
W Exome sequencing identifies potential
new candidate genes for unexplained colorectal
adenomatous polyposis.
S. Aretz, D. Drichel, M. Kerick,
J. Altmueller, A. Laner, S. Horpaopan, S. Vogt, T. Becker, P.
Nuernberg, S. Perner, E. Holinski-Feder, M. M. Noethen, P.
Hofmann, B. Timmermann, M. Schweiger, I. Spier.
T Prevalence of
mutations in hereditary
breast/ovarian cancer families and sporadic triple
negative breast cancer patients from Algeria.
F. Cherbal, R. Bakour, W. Abdou, C. Mehemmai, K. Gassi,
H. Gaceb, K. Boualga, N. Kanoun-Zitouni, W. Benbrahim.
F Combination of founder mutation screening and
genomic capture using BROCA yield high rate of loss
of function mutations in early onset and familial breast
and ovarian cancer in Greece.
F. Fostira, T. Walsh,
S. Casadei, M. K. Lee, A. Vratimos, G. Fountzilas,
I. Konstantopoulou, M.-C. King, D. Yannoukakos.
W A constitutional translocation disrupting
associated with bilateral renal angiomyolipomas.
A. Lehman, M. Steinraths, Z. Zong, L. Brown, K. Mungall,
K. M. Nip, I. Birol.
T An unusual case of Lynch syndrome — Should
chromosome analysis be offered routinely in the
investigation of this condition?
A. Murray, E. Kirk,
M. Prothero, D. Barrell, S. Rolleston, S. Palmer-Smith,
P. Thompson.
F Germline
mutations in uveal melanoma
patients with a personal and/or family history of renal
cell carcinoma.
R. Pilarski, C. M. Cebulla, O. Saqr, K. Rai,
J. B. Massengill, F. H. Davidorf, M. H. Abdel-Rahman.
W Combined effect of germline mutations in
and DNA mismatch repair genes on risk of
colorectal cancer.
A. K. Win, J. P. Young, D. D. Buchanan,
S. P. Cleary, H. Kim, J. G. Dowty, R. J. MacInnis,
T. Burnett, L. Le Marchand, P. A. Newcomb, R. W. Haile,
N. M. Lindor, J. L. Hopper, S. Gallinger, M. A. Jenkins.
T Towards scoring all 35,397 possible missense
variants of
for activity.
L. M. Starita, J. O. Kitzman,
J. G. Gullingsrud, J. D. Parvin, J. Shendure, S. Fields.
F Clinical presentation of patients with mutations
in the
regions associated with AFAP.
P. Kaushik,
K. Moyes, C. Arnell, M. Landon, R. Wenstrup.
W High sensitive detection of colorectal cancer
mutations using third generation sequencing.
G. Russo,
A. Patrignani, L. Poveda, F. Hoehn, R. Schlapbach, A. Garvin.