Search Results - "PONDER, B A J"

Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations by WHITTEMORE, A. S, BALISE, R. R, PONDER, B. A. J, BUYS, S, SENIE, R, ANDRULIS, I, JOHN, E, HOPPER, J. L, PIVER, M. S, PHAROAH, P. D. P, DICIOCCIO, R. A, CUNINGHAM, Kathleen, OAKLEY-GIRVAN, I, RAMUS, S. J, DALY, M, USINOWICZ, M. B, GARLINGHOUSE-JONES, K

“…Women with mutations of the genes BRCA1 or BRCA2 are at increased risk of ovarian cancer. Oral contraceptives protect against ovarian cancer in general, but it…”
Get full text

Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations by Lakhani, Sunil R., Jacquemier, Jocelyne, Sloane, John P., Gusterson, Barry A., Anderson, Thomas J., van de Vijver, Marc J., Farid, Linda M., Venter, Deon, Antoniou, Antonios, Storfer-Isser, Amy, Smyth, Elizabeth, Steel, C. Michael, Haites, Neva, Scott, Rodney J., Goldgar, David, Neuhausen, Susan, Daly, Peter A., Ormiston, Wilma, McManus, Ross, Scherneck, Siegfried, Ponder, Bruce A. J., Ford, Debbie, Peto, Julian, Stoppa-Lyonnet, Dominique, Bignon, Yves-Jean, Struewing, Jeffery P., Spurr, Nigel K., Bishop, D. Timothy, Klijn, J. G. M., Devilee, Peter, Cornelisse, Cees J., Lasset, Christine, Lenoir, Gilbert, Barkardottir, Rosa Bjork, Egilsson, Valgardur, Hamann, Ute, Chang-Claude, Jenny, Sobol, Hagay, Weber, Barbara, Stratton, Michael R., Easton, Douglas F.

“…Background: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their…”
Get full text

A clonal marker induced by mutation in mouse intestinal epithelium by Winton, D. J, Blount, M. A, Ponder, B. A. J

“…A cellular marker for individual somatic cells and their clonal descendents would be a valuable tool for the investigation of cell lineages and clonal…”
Get full text

Germline Homozygous Mutations at Codon 804 in the RET Protooncogene in Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2A Patients by Lesueur, F., Cebrian, A., Cranston, A., Leyland, J., Faid, T. M., Clements, M. R., Robledo, M., Whittaker, J., Ponder, B. A. J.

“…The effect of mutations at codon 804 in the RET protooncogene is disputed. Some studies have suggested that the V804L mutation causes the low penetrance…”
Get full text

HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer by BENUSIGLIO, P. R, PHAROAH, P. D, PONDER, B. A. J, SMITH, P. L, LESUEUR, F, CONROY, D, LUBEN, R. N, DEW, G, JORDAN, C, DUNNING, A, EASTON, D. F

“…ERBB2 is frequently amplified in breast tumours as part of a wide region of amplification on chromosome 17q21. This amplicon contains many candidate genes for…”
Get full text

Interactions between genes involved in the antioxidant defence system and breast cancer risk by OESTERGAARD, M. Z, TYRER, J, CEBRIAN, A, SHAH, M, DUNNING, A. M, PONDER, B. A. J, EASTON, D. F, PHAROAH, P. D. P

“…The aim of the study is to examine the association between multilocus genotypes across 10 genes encoding proteins in the antioxidant defence system and breast…”
Get full text

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis by Jadayel, D, Fain, P, Upadhyaya, M, Ponder, M. A, Huson, S. M, Carey, J, Fryer, A, Mathew, C. G. P, Barker, D. F, Ponder, B. A. J

“…Von Recklinghausen neurofibromatosis (NF-1) is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10(-4] is one of the highest for a…”
Get full text

UHRF1 is a novel molecular marker for diagnosis and the prognosis of bladder cancer by Unoki, M, Kelly, J D, Neal, D E, Ponder, B A J, Nakamura, Y, Hamamoto, R

“…Background: Bladder cancer is the second most common cancer of the urinary system. Early diagnosis of this tumour and estimation of risk of future progression…”
Get full text

Common BRCA1 Variants and Susceptibility to Breast and Ovarian Cancer in the General Population by Dunning, Alison M., Chiano, Mathias, Smith, Neil R., Dearden, Joanna, Gore, Martin, Oakes, Suzy, Wilson, Charles, Stratton, Michael, Peto, Julian, Easton, Doug, Clayton, David, Ponder, Bruce A. J.

“…Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1…”
Get full text

Common Polymorphisms in Checkpoint Kinase 2 Are not Associated with Breast Cancer Risk by KUSCHEL, B, AURANEN, A, GREGORY, C. S, DAY, N. E, EASTON, D. F, PONDER, B. A. J, DUNNING, A. M, PHAROAH, Paul D. P

“…A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. Polymorphisms in DNA…”
Get full text

Clonal origin of epithelial ovarian carcinoma: analysis by loss of heterozygosity, p53 mutation, and X-chromosome inactivation by Jacobs, I J, Kohler, M F, Wiseman, R W, Marks, J R, Whitaker, R, Kerns, B A, Humphrey, P, Berchuck, A, Ponder, B A, Bast, Jr, R C

“…It has been suggested that multiple sites of epithelial ovarian carcinoma on the peritoneal surface reflect polyclonal disease arising from multiple primary…”
Get more information

Common germ-line polymorphism of C1QA and breast cancer survival by Azzato, E M, Lee, A J X, Teschendorff, A, Ponder, B A J, Pharoah, P, Caldas, C, Maia, A T

“…Background: A synonymous single nucleotide polymorphism (SNP) rs172378 (A>G, Gly−>Gly) in the complement component C1QA has been proposed to be associated with…”
Get full text

Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer by Quaye, L, Song, H, Ramus, S J, Gentry-Maharaj, A, Høgdall, E, DiCioccio, R A, McGuire, V, Wu, A H, Van Den Berg, D J, Pike, M C, Wozniak, E, Doherty, J A, Rossing, M A, Ness, R B, Moysich, K B, Høgdall, C, Blaakaer, J, Easton, D F, Ponder, B A J, Jacobs, I J, Menon, U, Whittemore, A S, Krüger-Kjaer, S, Pearce, C L, Pharoah, P D P, Gayther, S A

“…Low–moderate risk alleles that are relatively common in the population may explain a significant proportion of the excess familial risk of ovarian cancer (OC)…”
Get full text

Further evidence for an HLA-related recessive mutation in nasopharyngeal carcinoma among the Chinese by HU, S. P, DAY, N. E, LI, D. R, LUBEN, R. N, CAI, K. L, OU-YANG, T, LI, B, LU, X. Z, PONDER, B. A. J

“…We typed 247 cases of nasopharyngeal carcinoma (NPC), a disease predominantly of the southern Chinese, and 274 controls from the Chao Shan region of China's…”
Get full text

Mutation analysis of CBP and PCAF reveals rare inactivating mutations in cancer cell lines but not in primary tumours by ÖZDAG, H, BATLEY, S. J, FÖRSTI, A, LYER, N. G, DAIGO, Y, BOUTELL, J, ARENDS, M. J, PONDER, B. A. J, KOUZARIDES, T, CALDAS, C

“…In this study we screened the histone acetyltransferases CBP and PCAF for mutations in human epithelial cancer cell lines and primary tumours. We identified…”
Get full text

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay by UPADHYAYA, M, RUGGIERI, M, KRAWCZAK, M, COOPER, D. N, MAYNARD, J, OSBORN, M, HARTOG, C, MUDD, S, PENTTINEN, M, CORDEIRO, I, PONDER, M, PONDER, B. A. J

“…Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening…”
Get full text

Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium by Mulligan, L M, Marsh, D J, Robinson, B G, Schuffenecker, I, Zedenius, J, Lips, C J, Gagel, R F, Takai, S I, Noll, W W, Fink, M

“…The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in…”
Get more information

Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population by Lesueur, F, Song, H, Ahmed, S, Luccarini, C, Jordan, C, Luben, R, Easton, D F, Dunning, A M, Pharoah, P D, Ponder, B A J

“…A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. pRb controls the cell…”
Get full text

Comparison of prophylactic oophorectomy specimens from carriers and noncarriers of a BRCA1 or BRCA2 gene mutation by STRATTON, J. F, BUCKLEY, C. H, LOWE, D, PONDER, B. A. J

“…BACKGROUND: The natural history of ovarian cancer is not well understood and, to date, there is conflicting evidence as to whether or not there is a…”
Get full text

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10 by Mathew, C. G. P, Chin, K. S, Easton, D. F, Thorpe, K, Carter, C, Liou, G. I, Fong, S.-L, Bridges, C. D. B, Haak, H, Kruseman, A. C. Nieuwenhuijzen, Schifter, S, Hansen, H. H, Telenius, H, Telenius-Berg, M, Ponder, B. A. J

Get full text