Page 164 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
153
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
ovarian cancer.
T. Pal, A. Mohammad, P. Sun, J. Lee, J.
Fulp, Z. Thompson, A. Doty, D. Coppola, S. Nicosia, T.
Sellers, J. McLaughlin, H. Risch, B. Rosen, J. Schildkraut,
S. Narod.
1062
W
BRCA2
mutations might be detected at a high
rate in a subset of cutaneous melanoma patients with
pancreatic cancer in the familial history.
N. Soufir, E.
Rouleau, C. Derouet, A. Riffault, H. H. Hu, S. Caputo, P.
Hammel, V. Descamps, N. Basset-Seguin, P. Saiag, A.
Bensussan, M. Bagot, R. Lidereau, B. Grandchamp.
1063
T
SUFU
germline mutation in a patient with Gorlin
syndrome identified by next-generation sequencing.
J.
B. Geigl, E. Heitzer, I. Wolf, L. Cerroni, M. R. Speicher.
1064
F Li-Fraumeni syndrome: A clinical, genetic, and
epidemiologic cohort study.
P. L. Mai, J. A. Peters, L.
Hoskins, F. Walcott, R. Bremer, S. A. Savage.
1065
W Early detection of cystic pleuropulmonary
blastoma and cystic nephroma in an asymptomatic
child with
DICER1
mutation—Screening
considerations.
F. Plourde, V. Larouche, N. Ferguson,
M. St-Amant, I. Harvey, N. Taherian, N. Sabbaghian, J. R.
Priest, W. D. Foulkes.
1066
T Impact of gynecological screening in Lynch
syndrome carriers with an
MSH2
mutation.
S.
Stuckless, P. Parfrey, L. Dawson, B. Barrett, J. Green.
1067
F Evaluation of mismatch repair gene sequence
variants in the Colon Cancer Family Registry using
multifactorial likelihood analysis.
B. A. Thompson, D.
E. Goldgar, M. Clendenning, R. Walters, M. T. Parsons,
S. Gallinger, R. W. Haile, J. L. Hopper, M. A. Jenkins,
L. LeMarchand, N. M. Lindor, P. A. Newcomb, S. N.
Thibodeau, J. P. Young, D. D. Buchanan, S. V. Tavtigian, A.
B. Spurdle, Colon Cancer Family Registry.
1068
W Development of a custom targeted AmpliSeq
multiplex sequencing assay for the detection of tumor-
derived somatic mutations and application as part
of a clinical trial.
C.-J. Lih, D. J. Sims, M. G. Mehaffey,
M. Dindinger, E. Levandowsky, C. C. Lee, T. T. Harkin, P.
Brzoska, B. Conley, S. Kummar, P. M. Williams.
1069
T A 30-year perspective of International Fanconi
Anemia Registry.
A. D. Auerbach, IFAR Collaboration
Team.
1070
F Histology and prognostic markers are powerful
tools for predicting
BRCA
mutation status.
C. D.
Delozier, A. Rahman, T. Liu, C. J. Curry.
1071
W Variants of uncertain significance in
BRCA
testing: Surgical decisions, risk perception, cancer
distress, and evaluation of the genetic cancer risk
assessment process.
J. O. Culver, C. D. Brinkerhoff, J.
Clague, K. Yang, K. E. Singh, S. R. Sand, J. N. Weitzel.
1072
T The contribution of predisposition
polymorphisms for body size to the inherited risk of
colorectal cancer.
L. Carvajal-Carmona, G. Casey, O.
Sieber, G. Montgomery, J. Young, P. Baird, D. Kerr, R.
M. Salazar, R. Ortoz, P. Ostrosky, L. Mendoza, S. Frias.
1050
W Fanconi anemia pathway proteins act
together and independently to regulate homologous
recombination and synthesis of telomeric DNA in
ALT-immortalized human cells.
H. Root, M. Komosa, A.
Larsen, D. Bazett-Jones, M. S. Meyn.
1051
T Transcriptome sequencing of tumor
subpopulations reveals a spectrum of therapeutic
options in squamous cell lung cancer.
C. L. Barrett,
R. B. Schwab, H. Jung, B. Crain, D. J. Goff, C. H. M.
Jamieson, P. A. Thistlethwaite, O. Harismendy, D. A.
Carson, K. A. Frazer.
1052
F A novel bi-allelic
MSH2
mutation associated
with constitutional mismatch repair deficiency
syndrome, and review of the clinical phenotype.
P.-Y. B.
Au, R. Perrier, E. G. Puffenberger, S. Hume, R. Anderson,
L. Lafay-Cousin, D. Strother, B. McInnes, J. Parboosingh,
F. Bernier.
1053
W Clinical and histopathologic characteristics
between familial and sporadic melanoma in Barcelona,
Spain.
C. Badenas, P. Aguilera, C. Carrera, J. Malvehy, J.
A. Puig-Butille, E. Martinez-Barrios, J. Palou, S. Puig.
1054
T A survey of stromal responses and their clinical
associations defined by the fibromatosis signature in
different types of carcinomas.
J. L. Chen, I. Espinosa, A.
Y. Lin, O. Y. Liao, M. van de Rijn, R. B. West.
1055
F Anticipation in hereditary paraganglioma and
pheochromocytoma syndromes.
H. Druker, D. Malkin,
S. Meyn.
1056
W Evaluation of mtDNA D-loop polymorphisms
in Iranian breast cancer patients.
M. Ghaffarpour, S.
Eslamizadeh, M. Arabzadeh, B. Motahari, N. Moazami, M.
Houshmand.
1057
T Does high HERV-K expression participate
in acute leukemia pathogenesis in children?
D. Januszkiewicz-Lewandowska, K. Nowicka, J.
Rembowska, J. Nowak.
1058
F SMAD4 loss-of-function mutations cause
wide range of clinical disorders with unpredictable
age-related penetrance.
N. M. Lindor, K. E. Wain, M. S.
Ellingson, J. McDonald, A. D. Gammon, M. E. Roberts, D.
L. Riegert-Johnson.
1059
W Automatic endometrial tumor screening for
Lynch syndrome.
M. Myers, P. Conrad, J. Rabban, J.
Terdiman, K. Loranger, A. Blanco, L. Chen.
1060
T Detection of
EGFR
mutations by TaqMan®
Mutation Detection Assays powered by Competitive
Allele-Specific TaqMan® PCR Technology (castPCR™).
N. Normanno, C. Roma, R. Pasquale, A. M. Rachiglio,
C. Esposito, F. Fenizia, M. L. La Porta, A. Iannaccone, F.
Bergantino, S. Costantini, A. Rico, R. Petraroli.
1061
F Germline mutations and microsatellite instability
status in a population-based study of women with