No association between a candidate TCF7L2variant and risk of breast or ovarian cancer (2009)
Goode, Ellen L, Szabo, Csilla, Prokunina-Olsson, Ludmila, Vierkant, Robert A, Fredericksen, Zachary S, Collins, Francis S, ...
Abstract Background TCF7L2 is a transcription factor involved in Wnt/β-catenin signaling which has a variant known to be associated with risk of Type 2 diabetes and, in some studies, with risk of...
Milne, Roger L., Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, ...
Background A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)–positive breast cancer. We...
Association of ESR1 gene tagging SNPs with breast cancer risk (2009)
Dunning, Alison M., Healey, Catherine S., Baynes, Caroline, Maia, Ana-Teresa, Scollen, Serena, Vega, Ana, ...
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55 000 breast cancer cases and controls from...
Antoniou, Antonis C., Sinilnikova, Olga M., McGuffog, Lesley, Healey, Sue, Nevanlinna, Heli, Heikkinen, Tuomas, ...
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a...
Kelemen, Linda E, Couch, Fergus J, Ahmed, Shahana, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, ...
Abstract Introduction The stroma is the supportive framework of biologic tissue in the breast, consisting of various proteins such as the proteoglycans, decorin and lumican. Altered expression of...
Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, ...
Abstract Introduction Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial...
Genome-wide association study identifies novel breast cancer susceptibility loci (2007)
Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., ...
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...
Genome-wide association study identifies novel breast cancer susceptibility loci (2007)
Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D.P., Thompson, Deborah, Ballinger, Dennis G., ...
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast...
Chenevix-Trench, Georgia, Milne, Roger L, Antoniou, Antonis C, Couch, Fergus J, Easton, Douglas F, Goldgar, David E, ...
Abstract BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. However, studies aimed at identifying these...
Lovelock, Paul K., Spurdle, Amanda B., Mok, Myth T. S., Farrugia, Daniel J., Lakhani, Sunil R., Healey, Sue, ...
Introduction Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood...
Molecular Basis for Estrogen Receptor {alpha} Deficiency in BRCA1-Linked Breast Cancer (2007)
Hosey, Alison M., Gorski, Julia J., Murray, Margaret M., Quinn, Jennifer E., Chung, Wen Y., Stewart, Gail E., ...
Background BRCA1-mutant breast tumors are typically estrogen receptor alpha (ERα) negative, whereas most sporadic tumors express wild-type BRCA1 and are ERα positive. We examined a possible...
Characterization of BRCA2 Transcriptional Regulation (2003)
The purpose of this award was to study the transcriptional regulation of the BRCA2 breast cancer predisposition gene with the goal of identifying agents capable of modulating BRCA2 expression. In...
Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...
The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...
Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers (2001)
Hartmann, Lynn C., Sellers, Thomas A., Schaid, Daniel J., Frank, Thomas S., Soderberg, Cheryl L., Sitta, Diana L., ...
Background: In women with a family history of breast cancer, bilateral prophylactic mastectomy is associated with a decreased risk of subsequent breast cancer of approximately 90%. We examined the...
Characterization of BRCA2 Transcriptional Regulation. (1998)
The purpose of this award is to study the transcriptional regulation of the BRCA2 breast cancer predisposition gene with the goal of identifying agents capable of modulating BRCA2 expression. The...
Characterization of BRCA2 Mutations in a Series of Functional Assays (1998)
The BRCA2 breast and ovarian cancer predisposition gene was identified in 1995. Mutations in the gene account for approximately 20% of all hereditary breast cancer and perhaps 2% of all breast cancer...
Characterization of BRCA2 Mutation in a Series of Functional Assays (1998)
Mutations in the BRCA2 gene account for approximately 20% of all hereditary breast cancer. Many individuals undergo expensive clinical testing for mutations in the BRCA2 gene in order to provide...
Chen, Junjie, Silver, Daniel P., Walpita, Deepika, Cantor, Sharon B., Gazdar, Adi F., Tomlinson, Gail, ...
BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each interact with hRAD51. Results presented here show that BRCA1 and BRCA2...
Chromosomal mapping of the rat Slc4a family of anion exchanger genes, Ae1, Ae2, and Ae3 (1996)
Tissil, F., Couch, Fergus J., Szpirer, Josiane, Szpirer, C., Van Vooren, P., Simon, J.S., ...
Peer Reviewed
Collins, Francis S., Boehnke, Michael, Chandrasekharappa, Settara C., Shearon, Tempie H., Ho, Peggy P., Couch, Fergus J., ...
The human homolog of the Saccharomyces cerevisiae cell division control 27 gene (CDC27) was mapped to human chromosome 17q12-q21 using a panel of human/rodent somatic cell hybrids and localized...
Transcript identification in the BRCA1 candidate region (1995)
Abel, Kenneth J., Couch, Fergus J., Merajver, Sofia D., Castilla, Lucio H., Brody, Lawrence C., Collins, Francis S., ...
Chromosome 17q12-21 is known to contain a gene (or genes) which confers susceptibility to early-onset breast cancer and ovarian cancer (BRCA1). Identification and isolation of BRCA1 will likely...
Couch, Fergus J., Kiousis, Sam, Castilla, Lucio H., Xu, Junzhe, Chandrasekharappa, Settara C., Chamberlain, Jeffrey S., ...
A familial early onset breast cancer gene (BRCA1) has been localized to chromosome 17q21. To aid in the identification of this gene a number of new microsatellite markers from the D17S857 to D17S78...
Couch, Fergus J., Abel, Kenneth J., Brody, Lawrence C., Boehnke, Michael, Collins, Francis S., Weber, Barbara L.
The gene encoding ATP-citrate lyase, designated ACLY, was mapped to human chromosome 17q12-q21 by PCR on a panel of human/rodent somatic cell hybrids and localized to 17q21.1 by PCH on a panel of...
Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...
The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...
Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, ...
The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer...
Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N. A., Tavtigian, Sean V., Couch, Fergus J.
Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high- or low-risk categories is an important problem in clinical...
Chenevix-Trench, Georgia, Milne, Roger L, Antoniou, Antonis C, Couch, Fergus J, Easton, Douglas F, Goldgar, David E
BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among carriers. However, studies aimed at identifying these factors have...
Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, ...
Kelemen, Linda E, Couch, Fergus J, Ahmed, Shahana, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, ...
Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., ...
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families....
Spontaneous Vulvar Papillomas in a Colony of Mice Used for Pancreatic Cancer Research
Gades, Naomi M, Ohashi, Akihiro, Mills, Lisa D, Rowley, Matt A, Predmore, Kelly S, Marler, Ronald J, ...
Mice in a colony used for pancreatic cancer research and maintained in a barrier animal facility presented with vulvar masses. A census and examination of all colony animals was conducted on 17...