Page 171 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
cancer.
J. Tinat, F. Charbonnier, S. Coutant, R. Marlin,
G. Bougeard-Denoyelle, S. Baert-Desurmont, M. Tosi, T.
Frebourg, I. Tournier.
1223
F Interpretation of variants of unknown
significance with a large database of genotyped and
phenotyped individuals.
B. T. Naughton, A. Chowdry, J.
M. Macpherson, G. M. Benton.
1224
W Exome sequencing identifies rare deleterious
mutations in DNA repair genes
FANCC
and
BLM
as
potential breast cancer susceptibility alleles.
E. R.
Thompson, M. A. Doyle, S. M. Rowley, D. Y. H. Choong,
G. K. Philip, A. H. Trainer, P. A. James, G. Mitchell, I. G.
Campbell, kConFab.
1225
T Cancer genetic testing panels: Preliminary
experience within an adult genetics practice.
C. G.
Selkirk, S. M. Weiss, K. J. Vogel, A. C. Newlin, S. M.
Weissman, P. J. Hulick.
1226
F Thirty percent of breast cancer families negative
by commercial
BRCA1/BRCA2
testing are resolved by
mutations in 13 other breast cancer genes, by
BRCA1/
BRCA2
phenocopies, and by
BRCA1/BRCA2
CNVs.
T. Walsh, S. Casadei, A. M. Thornton, G. Bernier, C. H.
Spurrell, S. M. Stray, J. Mandell, M. K. Lee, M.-C. King.
1227
W Comparison of next-generation sequencing
with traditional sequencing and MLPA for
BRCA1
and
BRCA2
testing.
K. Chun, A. Brown, K. Ng, R. Denroche, J.
D. McPherson.
1228
T Genomic capture and massively parallel
sequencing reveals inherited loss-of-function
mutations in 8 genes in 19% of familial breast cancer
patients from Greece.
A. Stavropoulou, T. Walsh, F.
Fostira, M. Tsitlaidou, S. Casadei, S. Glentis, G. Fountzilas,
I. Konstantopoulou, M. C. King, D. Yannoukakos.
1229
F Elevated rate of somatic L1 retrotransposition in
colorectal tumors.
S. Solyom, A. D. Ewing, E. Rahrmann,
T. Doucet, H. H. Nelson, D. F. Sigmon, A. Casella, B.
Erlanger, S. Wheelan, G. Faulkner, D. Haussler, D.
Largaespada, H. H. Kazazian.
1230
W Mutational analysis of splicing machinery genes
SF3B1, U2AF1
and
SRSF2
in myelodysplasia and other
common tumors.
S. Lee, E. Je, M. Kim, J. Oh, N. Yoo.
1231
T Calling allele or haplotype-specific copy
number in tumor sequence data.
N. Dewal, Y. Hu, M.
L. Freedman, T. LaFramboise, I. Pe’er, R. A. Gibbs, D. A.
Wheeler.
1232
F Somatic mutation detection of tumor and
matched-normal samples for semiconductor-based
sequencing.
A. H. Joyner, S. Utiramerur, D. Brinza, H.
Breu, B. Krishnaswami, A. Shukla, J. Zhai, Y. Lou, F.
Hyland, D. Thomas, E. Beasley.
1233
W Acute lymphoblastic leukemia: Novel
therapeutic approach based on an active patient-
individualized multipeptide vaccination.
C. Schroeder,
M. Sturm, U. Pflückhahn, M. Feldhahn, O. Kohlbacher,
Nguyen-Dumont, M. Pertesi, F. A. Odefrey, F. Hammet, S.
L. Neuhausen, E. M. John, I. L. Andrulis, M. B. Terry, M.
Daly, S. Buys, F. Le Calvez-Klem, A. Lonie, B. J. Pope, H.
Tsimiklis, C. Voegele, F. M. Hilbers, N. Hoogerbrugge, A.
Barroso, A. Osorio, G. G. Giles, P. Devilee, J. Benitez, J. L.
Hopper, S. V. Tavtigian, D. E. Goldgar, kConFab, BCFR.
1214
F Identification of genetic susceptibility loci
for familial prostate cancer through whole exome
sequencing: The ICPCG study design.
S. N. Thibodeau,
M. DeRycke, S. McDonnell, S. Gunawardena, Y. W.
Asmann, S. Middha, L. Cannon-Albright, J. L. Stanford,
E. A. Ostrander, W. B. Isaacs, J. Xu, J. Schleutker, K. A.
Cooney, E. M. Lange, J. D. Carpten, J. E. Bailey-Wilson,
O. Cussenot, G. G. Giles, G. Severi, C. Maier, A. S.
Whittemore, C. L. Hsieh, F. Wiklund, W. J. Catalona, W. D.
Foulkes, D. Mandal, R. Eeles, D. Easton, D. Seminara, D.
Schaid on behalf of International Consortium for Prostate
Cancer Genetics.
1215
W Discovery of novel long noncoding RNAs
and aberrant alternative splicing events by RNA-
sequencing in childhood acute lymphoblastic leukemia.
R. Vidal, J. F. Spinella, V. Saillour, C. Richer, J. Healy, E.
Bareke, S. Busche, B. Ge, T. Pastinen, A. Droit, D. Sinnett.
1216
T Association of polymorphisms in the
FOXE1
gene, but not
NKX2-1
,
with familial papillary thyroid
carcinoma.
S. G. Wilson, C.-Y. Yan, L. Ward, S. Chew,
V. Panicker, S. J. Brown, S. Chiripal, J. Goldblatt, T. D.
Spector, J. Walsh.
1217
F
XPC
gene founder splicing site mutation
is common in Brazilian xeroderma pigmentosum
patients.
M. I. W. Achatz, K. M. Santiago, F. P. Vairo, P.
Ashton-Prolla, P. F. V. de Medeiros, R. M. Rocha, S. R.
Rogatto.
1218
W Rare variants in genes from esophageal
squamous cell carcinoma genome-wide association
studies identified by exome/whole genome sequencing
of high-risk upper gastrointestinal cancer families.
A.
M. Goldstein, N. Hu, K. J. Jacobs, L.-J. He, X.-Y. Han, M.
Rotunno, M. Cullen, J. Boland, H. Su, L. Wang, C. Wang,
L. Burdett, M. Malasky, A. Hutchinson, M. Yeager, T. Ding,
C. Giffen, M. A. Tucker, S. J. Chanock, M. Lee, P. R. Taylor.
1219
T Identification of breast cancer susceptibility
genes.
L. Guidugli, J. N. Weitzel, X. Wang, S. Hart, F. J.
Couch, C. Szabo.
1220
F Mutations in
SDHA
are a common cause of
paragangliomas and pheochromocytomas and give
rise to a diverse tumor spectrum.
A. R. Mensenkamp, J.
U. Rao, K. L. I. van Gassen, B. Kusters, J. W. M. Lenders,
H. P. M. Kunst, H. J. L. M. Timmers, M. J. L. Ligtenberg.
1221
W Identifying novel cancer susceptibility genes
through exome sequencing and copy number analysis
of individuals with Li Fraumeni-like cancer phenotypes.
S. E. Plon, L. C. Strong, B. Powell, L. Jiang, H. Cheung, D.
Ritter, D. M. Muzny, D. A. Wheeler, R. A. Gibbs.
1222
T Development and validation of NGS-based
molecular diagnosis of inherited forms of colorectal