Page 170 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
159
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
Sakamoto, R. Pogue, R. W. Pereira.
1203
W Comprehensive germline susceptibility variant
discovery in ovarian cancer using exome sequencing
data.
L. Ding, K. Johnson, K. Kanchi, M. Mclellan, C. Lu,
Q. Zhang, D. Koboldt, C. Kandoth, T. Graubert, T. Ley, E.
Mardis, R. Wilson.
1204
T Whole-exome sequencing of four patients with
critera of familial hyperplastic polyposis.
C. Garrec,
S. Küry, P. Lindenbaum, V. Vidal, F. Airaud, J. Chettrit, E.
Cauchin, J. F. Mosnier, S. Bézieau.
1205
F RAD51 paralogs mutation screening in
breast and ovarian cancer families.
L. Golmard,
V. Caux-Moncoutier, G. Davy, E. Al Ageeli, B. Poirot,
C. Tirapo, D. Michaux, C. Barbaroux, C. Dubois
d’Enghien, L. Castéra, M.-H. Stern, C. Houdayer, D.
Stoppa-Lyonnet.
1206
W
MLH1
,
MSH2
and
MSH6
mutations identified by
DNA sequencing and MLPA analysis: Experience from
the Colon Cancer Family Registry.
S. R. Gunawardena,
M. S. DeRycke, N. M. Lindor, M. A. Jenkins, J. L.
Hopper, D. D. Buchanan, S. Gallinger, P. Newcomb, L.
LeMarchand, R. W. Haile, S. N. Thibodeau, Colon Cancer
Family Registry.
1207
T Whole-exome sequencing of a rare case of
familial childhood acute lymphoblastic leukemia.
J.
Healy, C. Richer, J. F. Spinella, V. Saillour, R. Vidal, E.
Bareke, S. Busche, B. Ge, T. Pastinen, D. Sinnett.
1208
F Comprehensive
BRCA1
and
BRCA2
mutational
profile in Lithuania.
R. Janavicius, V. Rudaitis, L.
Griskevicius.
1209
W A broad re-sequencing study of 409 genes
in NCI-60 cell lines using the Ion Ampliseq™
Comprehensive Cancer Panel and Ion PGM™
semiconductor sequencing reveals previously
unreported cell line-specific mutations.
B. S. G. Kong,
M. Shannon, I. Casuga, D. Joun, S. M. Chen, C.-Y. Li, D.
Ruff, R. Bennett.
1210
T Germline sequencing for aggressive prostate
carcinoma.
D. Larson, D. Koboldt, E. Appelbaum, M.
O’Laughlin, R. Fulton, J. Haslag-Minoff, I. Borecki, A.
Kibel, R. Wilson, E. Mardis.
1211
F A next-generation sequencing diagnostic
panel to test all cancer susceptibility genes.
S. S.
Mahamdallie, E. Ruark, K.-W. Lau, A. Renwick, S. Seal, E.
Ramsay, S. Hanks, J. Douglas, N. Rahman.
1212
W New germline
MET
variants inhereditary
papillary type 1 renal carcinomas within the French
population.
E. Rouleau, C. Lefol, S. Caputo, V. Verkarre,
C. Guy, F. Copigny, C. Maugard, O. Caron, F. Eisinger, P.
Berthet, Y.-J. Bignon, J. Chiesa, A. David, T. Frebourg,
S. Giraud, S. Lejeune, J.-M. Limacher, H. Zattara, S.
Deveaux, I. Bieche, S. Richard, R. Lidereau.
1213
T Rare mutations in
XRCC2
confer increased risk
of breast cancer.
M. Southey, D. J. Park, F. Lesueur, T.
1190
F Analysis of TCGA patient and curated public
genomic data identifies differentially regulated
processes in breast cancer metastases.
R. Wisotzkey,
A. Umesh, J. Park, J. Shima, J. Delaney, E. Kelly, E. Chiu,
M. Shekar, I. Kupershmidt.
1191
W Extreme breast/ovarian cancer phenotypes
in non
BRCA1
and
BRCA2
families of Greek ancestry.
F. Fostira, A. V. Stavropoulou, I. Konstantopoulou, D.
Yannoukakos.
1192
T Modeling carcinogenesis in BRCA1 and BRCA2
heterozygous mammary epithelial cells.
M. E. Keith, M.
Tenniswood.
1193
F Integrated transcriptional and functional
screening identifies novel regulators of lymphoid
lineage determination.
E. Laurenti, S. Doulatov, I. Plumb,
M. Doedens, C. April, J. B. Fan, J. Dick.
1194
W microRNA in biofluids—robust biomarkers
for disease, toxicology or injury studies: The case
of minimally invasive colorectal cancer detection.
P.
Mouritzen, T. Blondal, D. Andreasen, N. Tolstrup, M. W.
Teilum, A. Baker, S. J. Nielsen.
1195
T Detection of
KRAS, BRAF, NRAS
and
PIK3CA
cancer markers by castPCR technology.
J. Au-Young,
D. Keys, B. Ching, M. Mouanoutoua, D. Merrill.
1196
F Identifying the causes of dyskeratosis
congenita: The prototypical telomere biology disorder.
S. A. Savage, N. Giri, B. Ballew, B. P. Alter.
1197
W Germline
BAP1
mutation: Additional case report
and expanding clinical phenotype.
R. Pilarski, C. M.
Cebulla, T. Rich, L. Strong, M. H. Abdel-Rahman.
1198
T Detection of human breast cancer gene
fusions from RNA-sequencing analysis of
formalin-fixed paraffin-embedded tissue specimens.
Y. Ma, J. Stephans, R. Ambannavar, J. Jeong, J.
Morlan, A. Dei Rossi, M. Liu, D. Sinicropi, J. Baker,
K. Qu.
1199
F Analysis of quantitative trait loci (eQTLs) in
pancreatic cancer by RNA sequencing.
H. Parikh, J. Jia,
W. Xiao, I. Collins, J. Hoskins, J. Powell, S. Thorgeirsson,
J. Shi, G. Petersen, L. Amundadottir.
1200
W Identification of fusion transcripts and copy
number variations in acute lymphoblastic leukemia by
next-generation RNA and DNA sequencing.
M. Bonin,
C. Schroeder, M. Sturm, U. Pflückhahn, M. Feldhahn,
O. Kohlbacher, H. G. Rammensee, P. Lang, O. Riess, P.
Bauer, M. Walter.
1201
T Admixture rate estimation and post-call
correction for complete genomics matched tumor-
normal whole genome sequencing data.
M. Chen, Z.
Omay, A. Serin, M. Gunel, H. Zhao.
1202
F Transcriptome analysis of blast cells of patients
with acute lymphoblastic leukemia in diagnosis
and relapse.
M. A. Chiabai, G. R. Fernandes, L. H. T.