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1207F Does age at cancer diagnosis depend on parent
of origin of BRCA mutation?
I. Shapira, D. Budman, M.
Akerman, L. Weiselberg, V. Vinciguerra, J. D'Olimpio, C.
Devoe, C. Chavez, K. Cheng, L. Donahue, S. Cohen.
1208F A founder XPD mutation among Iraqi Jews:
Estimation of the most recent common ancestor.
H.
Slor, S. Orgal, Z. Keren, S. Koka, O. Bittermann Deutch, E.
Azizi, F. Pavlotzki, R. Yaniv, M. Korostishevsky, K. H.
Kraemer, P. C. Hanawalt, G. Spivak, T. C. Falik-Zaccai.
1209F Further phenotypic characterization of
segmental neurofibromatosis type 1 in a large patient
cohort.
J. S. Solomons, J. Jamieson, S. Huson, D.
Shears, U. Kini.
1210F Novel mutation in tp53 I195S in a patient with
Li-Fraumeni.
T. Wegman-Ostrosky, L. Taja-Chayeb, J.
Sanchez-Corona, C. Moran-Moguel, C. Migues-Muñoz, S.
Vidal-Millan.
1211F Mutation analysis of the
Rak
gene in Finnish
breast cancer families.
T. Heikkinen, L. M. Pelttari, K.
Aittomäki, C. Blomqvist, H. Nevanlinna.
1212F Association of variants in estrogen-related
pathway genes with prostate cancer risk and
prognosis.
S. K. Holt, E. W. Kwon, R. Fu, S. Kolb, Z.
Feng, E. A. Ostrander, J. L. Stanford.
1213F Association of genetic polymorphisms in the
androgen pathway and prostate cancer risk.
E. M.
Kwon, S. K. Holt, R. Fu, S. Kolb, Z. Feng, J. L. Stanford,
E. A. Ostrander.
1214F Frequency of
BRCA1
and
BRCA2
mutations in
prostate cancer.
D. Leongamornlert, E. Saunders, M.
Tymrakiewicz, N. Mahmud, E. Castro, C. Goh, T. Dadaev,
M. Guy, L. O'Brien, E. Sawyer, A. Hall, R. Wilkinson, D.
Easton, D. Goldgar, R. Eeles, Z. Kote-Jarai, UKGPC
Collaborators.
1215F Evidence for a
hTERT
repressor gene on human
chromosome 3p21.3 by using chromosome
engineering.
T. Ohhira, S. Abe, H. Tanaka, T. Notsu, S.
Horike, D.-L. Qi, C. Fujisaki, G. David, M. Oshimura, H.
Kugoh.
1216F Frequency of haplotype (C667T/A1298C
polymorphisms) of MTHFR in Mexican breast cancer
patients.
A. M. Puebla, A. Solorzano, A. Ramos, L. E.
Figuera, M. P. Gallegos.
1217F Rapid and precise inference of copy number
alterations using graphics processing units.
G. K.
Chen, C. Curtis, K. Wang.
1218F Copy number variation analysis in 134 unrelated
patients with mutation negative adenomatous
polyposis.
S. Horpaopan, S. Vogt, I. Spier, A. M. Zink, K.
Wöllner, S. Herms, M. Draaken, A. Kaufmann, D. Stienen,
S. Uhlhaas, E. Holinski-Feder, M. M. Nöthen, P. Hoffmann,
S. Aretz.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1219F Cutaneous somatic mosaicism in hereditary
leiomyomatosis and renal cell cancer.
B. G. Hammon
R. Madani, M. Pithukpakorn, G. M. Glenn, C. Cabala, O
Toure, W. M. Linehan, M. H. Wei, J. R. Toro.
1220F Description of BRCA mutations, UVs, SNPs a
haplotypes in North-Eastern Romanian population.
Negura, D. Azoicai, M. Matei, G. Popoiu, A. Coneac, N.
Uhrhammer, Y.-J. Bignon, A. Negura.
1221F Prostate cancer predisposition loci and risk o
metastatic prostate cancer in Asian Indians.
Y. Tan,
Ahn, T. Rebbeck, R. Mittal, A. Mandhani, B. Mittal, R.
Hayes, H. Rennert.
1222F Spatio-temporal dynamics of ATM protein at
DNA damage sites define a distinct sub-pathway of
the DNA double strand break response network.
M.
Meyn, P. Bradshaw.
1223F Single-cell RT-PCR cDNA subtraction and
expression profiling of putative bipotential B-
macrophage progenitors improves the identification
both normal and leukaemic haematopoietic
development.
E. Sakhinia, Y. Heshmat, G. Brady.
1224F In silico estimation of probabilities in favor of
pathogenicity for mismatch repair gene missense
substitutions.
B. A. Thompson, M. P. Vallee, J. C.
Herkert, C. Tessereau, E. L. Young, I. A. Adzhubei, B. Li
P. Gaildrat, R. Bell, S. D. Mooney, P. Radivojac, S. R.
Sunyaev, T. Frebourg, R. M. W. Hofstra, R. H. Sijmons,
Boucher, A. Thomas, D. E. Goldgar, M. S. Greenblatt, A
B. Spurdle, S. V. Tavtigian.
1225F The GWAS-identified prostate cancer
associated SNP, rs10993994, transcriptionally regula
microseminoprotein-beta levels.
X. Xu, J. E. Hayes, H
G. Lilja, R. J. Klein.
1226F Genes with novel SNPs and indels in the earl
onset female breast cancer identified through whole
exome sequencing.
C. Lee, N. Leng, W. Kuo, H. Yang,
Nobuta, Y. Lu, C. Chang, C. Lin, C. Chen, W. Yao, K.
Chiu, A. Cheng, C. Shen, K. Chang, C. Haudenschild,
Chen.
1227F The genomic landscape of childhood pre-B
acute lymphoblastic leukemia.
J. Spinella, V. Saillour,
Healy, M. Larivière, A. Alter, C. Richer, M. Bourgey, S.
Busche, B. Ge, A. Montpetit, T. Pastinen, D. Sinnett.
1228F A genome-wide association study to identify
genetic markers associated with endometrial cance
grade.
T. A. O'Mara, D. Duffy, D. J. Thompson, S. Ahm
K. Ferguson, C. S. Healey, G. Montgomery, M. Shah, J.
Morrision, P. P. Pharoah, A. M. Dunning, P. M. Webb, D
Easton, A. B. Spurdle, ANECS.
1229F Precise characterization of stromal
transcriptional response to developing tumors using
RNAseq.
R. O. Bainer, C. Frankenberger, J. Menon, C.
Chavarria, K. Michelini, P. Melsted, Y. Gilad, M. R. Rosn