Page 263 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3349
T Identification of novel mechanisms of drug
resistance in
BRCA1
-
deficient cancer cells by exome
and RNA sequencing.
K. K. Dhillon, T. Walsh, S. Gulsuner,
T. Taniguchi.
3350
F Rhabdoid tumour in a 13 year old with Ring 22:
A special case of the two-hit hypothesis.
H. Druker,
L. Zahavich, D. Malkin, S. Meyn.
3351
W ATM and MDC1 independently modulate
resection of DNA double-strand breaks for
homologous recombination repair in human cells.
P. S.
Bradshaw, M. Komosa, M. S. Meyn.
3352
T Identification of an extragenic mutation of
BUB1B
gene for PCS (MVA) syndrome and functional
analysis using TAL effector nucleases.
T. Miyamoto, H.
Ochiai, A. Kanai, K. Hosoba, S. Kume, T. Sakuma, T. Kajii,
T. Yamamoto, S. Matsuura.
3353
F Immunohistochemical expression of Afadin-6
in sporadic neurofib omas.
M. Sulaiman, A. Dodson, T.
Helliwell, C. Kudi, I. Hussaini, S. Ojo, J. Hambolu.
3354
W Fragile site FS2 instability stimulates mitotic
recombination in the yeast
Saccharomyces cerevisiae
.
K. Kapellas, S. Miller, D. Rosen, E. Younkin, A. Casper.
3355
T SirT7 promotes genomic stability and adequate
DNA damage response.
B. Vazquez, J. Thackray, S.
Bunting, J. A. Tischfield, L. Serrano.
3356
F The Fanconi anemia pathway regulates ALT
telomere maintenance in human cells.
H. Root, M.
Komosa, A. Larsen, D. P. Bazett-Jones, M. S. Meyn.
3357
W Anaplastic rhabdomyosarcoma in
TP53
germline mutation carriers.
S. Hettmer, N. Archer, G.
Somers, A. Novokmet, A. Wagers, L. Diller, C. Rodriguez-
Galindo, L. Teot, D. Malkin.
3358
T Polymorphisms of
MTHFR
,
prothrombin
and factor V (Leiden) genes in children with acute
lymphoblastic leukemia.
E. Maly, O. Zajac-Spychala, J.
Kedzierska, J. Nowak, D. Januszkiewicz-Lewandowska.
3359
F Offspring of couples who both survived cancer.
J. J. Mulvihill, J. F. Winther, L. Madanat-Harjuoja, P. M.
Lähteenmäki, J. D. Boice, Jr.
3360
W Pleuropulmonary blastoma (PPB) type and
distant metastases are significantly associated with
disease-free survival: A report from the International
PPB Registry.
D. R. Stewart, P. S. Rosenberg, G. M.
Williams, J. R. Priest, KA. P. Schultz, A. Harris, L. Doros, D.
A. Hill, L. P. Dehner, Y. H. Messinger.
3361
T Improved detection of
FLCN
mutations in
patients with Birt-Hogg-Dubé syndrome.
J. R. Toro, B.
Friedman, S. Bale.
3362
F Gene expression in P53 and Bcl-2 in biopsy
samples of ulcerative colitis and colon cancer in Iraqi
patients.
Z. Jaafar.
3337
T Molecular characterization of der(1)t(1;19) in a
patient with myelodysplastic syndrome.
J. Kim, J. Choi,
J. Choi, Y. Kim, K. Lee.
3338
F Characterization of uterine leiomyomas by whole-
genome sequencing.
M. Mehine, E. Kaasinen, N. Mäkinen,
R. Katainen, K. Kämpjärvi, E. Pitkänen, H. Heinonen, R.
Bützow, O. Kilpivaara, A. Kousmanen, H. Ristolainen, M.
Gentile, J. Sjöberg, P. Vahteristo, L. Aaltonen.
3339
W Fluorescence in situ hybridization (FISH) on
abnormal metaphases helps unmask the location
of hidden genes/genomic segments in cases with
abnormal karyotypes and abnormal FISH panels.
N. Mitter.
3340
T SNP chromosomal microarray analysis with
DNA extracted from Carnoy’s fixed cell pellets of
myelodysplastic syndrome/acute myeloid leukemia.
N.
Rao, D. Cherukuri, I. Amarillo, F. Quintero-Rivera.
3341
F Genomic aberrations in myeloid sarcoma:
Characterization of formalin-fixed paraffin-embedde
samples by whole-genome SNP arrays and next-
generation sequencing.
M. Sukhanova, K. M. Mirza, Z.
Li, F. Stolzel, K. Onel, M. M. Sasaki, P. Reddy, L. Joseph,
G. Raca.
3342
W A case of pediatric acute lymphoblastic
leukemia presenting with a (9;12) translocation
involving
JAK2
and rearrangement of
MLL
at 11q23
with an apparent insertion at 6q27.
C. Tirado, M.
DeNicola, D. Rao, P. Delgado, A. Jarrin, L. Yang, N. Rao.
3343
T Utility of CD-138 negative fraction for
chromosome analysis in plasma cell dyscrasias:
A novel approach.
G. Velagaleti, G. Mohamed, W. Ehman
Jr., C. Mendiola, V. Noronha, V. Ortega.
3344
F A unique rearrangement of
PDGFRA
and
ETV6
in a three-way translocation t(4;12;6) in a patient with
acute myeloid leukemia progressed from chronic
myelomonocytic leukemia.
N. M. Guruju, R. García, K.
Wison, S. Monaghan, P. Koduru.
3345
W Detection of the
EML4-ALK
fusion gene in non-
small cell lung cancer: Our FISH service to date.
C.
Durajczyk, D. Massie, K. Kerr, D. Stevenson.
3346
T Identification of novel fusion transcripts in ALL
patients.
M. Walter, C. Schroeder, C. Kyzirakos, P. Lang,
M. Sturm, P. Bauer, O. Riess, M. Bonin.
3347
F Whole-genome sequencing of Li-Fraumeni
families reveals heterogeneous mutational signatures.
K. Bhutani, D. Quarless, Q. Peng, K. Standish, E. Scott, S.
Head, S. Williams, T. Kunicki, P. B. Hedlund, D. Nugent, N.
J. Schork.
3348
W A role for telomere length in the genetic
etiology of hematological malignancies.
N. B.
Blackburn, J. C. Charlesworth, J. R. Marthick, T. D. Dyer,
T. A. Thornton, R. J. Thomson, E. M. Tegg, K. A. Marsden,
V. Srikanth, J. Blangero, R. M. Lowenthal, S. J. Foote, J.
L. Dickinson.