Search Results - "EASTON, Douglas F"

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors by Lee, Andrew, Mavaddat, Nasim, Wilcox, Amber N., Cunningham, Alex P., Carver, Tim, Hartley, Simon, Babb de Villiers, Chantal, Izquierdo, Angel, Simard, Jacques, Schmidt, Marjanka K., Walter, Fiona M., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Tischkowitz, Marc, Pharoah, Paul, Easton, Douglas F., Antoniou, Antonis C.

“…Purpose Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian…”
Get full text

CanRisk Tool-A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants by Carver, Tim, Hartley, Simon, Lee, Andrew, Cunningham, Alex P, Archer, Stephanie, Babb de Villiers, Chantal, Roberts, Jonathan, Ruston, Rod, Walter, Fiona M, Tischkowitz, Marc, Easton, Douglas F, Antoniou, Antonis C

“…The CanRisk Tool (https://canrisk.org) is the next-generation web interface for the latest version of the BOADICEA (Breast and Ovarian Analysis of Disease…”
Get full text

Using human genetics to understand the disease impacts of testosterone in men and women by Ruth, Katherine S, Day, Felix R, Tyrrell, Jessica, Thompson, Deborah J, Wood, Andrew R, Mahajan, Anubha, Beaumont, Robin N, Wittemans, Laura, Martin, Susan, Busch, Alexander S., Erzurumluoglu, A. Mesut, Hollis, Benjamin, O’Mara, Tracy A., McCarthy, Mark I, Langenberg, Claudia, Easton, Douglas F, Wareham, Nicholas J, Burgess, Stephen, Murray, Anna, Ong, Ken K, Frayling, Timothy M, Perry, John R. B.

“…Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are…”
Get full text

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study by Copson, Ellen R, Maishman, Tom C, Tapper, Will J, Cutress, Ramsey I, Greville-Heygate, Stephanie, Altman, Douglas G, Eccles, Bryony, Gerty, Sue, Durcan, Lorraine T, Jones, Louise, Evans, D Gareth, Thompson, Alastair M, Pharoah, Paul, Easton, Douglas F, Dunning, Alison M, Hanby, Andrew, Lakhani, Sunil, Eeles, Ros, Gilbert, Fiona J, Hamed, Hisham, Hodgson, Shirley, Simmonds, Peter, Stanton, Louise, Eccles, Diana M

“…Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The…”
Get full text

Comprehensive functional annotation of 77 prostate cancer risk loci by Hazelett, Dennis J, Rhie, Suhn Kyong, Gaddis, Malaina, Yan, Chunli, Lakeland, Daniel L, Coetzee, Simon G, Henderson, Brian E, Noushmehr, Houtan, Cozen, Wendy, Kote-Jarai, Zsofia, Eeles, Rosalind A, Easton, Douglas F, Haiman, Christopher A, Lu, Wange, Farnham, Peggy J, Coetzee, Gerhard A

“…Genome-wide association studies (GWAS) have revolutionized the field of cancer genetics, but the causal links between increased genetic risk and…”
Get full text

Genetic susceptibility to breast cancer by Mavaddat, Nasim, Antoniou, Antonis C., Easton, Douglas F., Garcia-Closas, Montserrat

“…Genetic and lifestyle/environmental factors are implicated in the aetiology of breast cancer. This review summarizes the current state of knowledge on rare…”
Get full text

Genome-wide association studies in common cancers—what have we learnt? by Varghese, Jajini Susan, Easton, Douglas F

“…Genome-wide association studies (GWAS) have led to the identification of more than 100 common, low-penetrance loci for cancer. At these loci, common genetic…”
Get full text

Combined quantitative measures of ER, PR, HER2, and KI67 provide more prognostic information than categorical combinations in luminal breast cancer by Abubakar, Mustapha, Figueroa, Jonine, Ali, H. Raza, Blows, Fiona, Lissowska, Jolanta, Caldas, Carlos, Easton, Douglas F., Sherman, Mark E., Garcia-Closas, Montserrat, Dowsett, Mitch, Pharoah, Paul D.

“…Although most women with luminal breast cancer do well on endocrine therapy alone, some will develop fatal recurrence thereby necessitating the need to…”
Get full text

The contribution of rare variation to prostate cancer heritability by Mancuso, Nicholas, Rohland, Nadin, Rand, Kristin A, Tandon, Arti, Allen, Alexander, Quinque, Dominique, Mallick, Swapan, Li, Heng, Stram, Alex, Sheng, Xin, Kote-Jarai, Zsofia, Easton, Douglas F, Eeles, Rosalind A, Le Marchand, Loic, Lubwama, Alex, Stram, Daniel, Watya, Stephen, Conti, David V, Henderson, Brian, Haiman, Christopher A, Pasaniuc, Bogdan, Reich, David

“…Christopher Haiman, Bogdan Pasaniuc, David Reich and colleagues report a major role for low-frequency variation in the risk for prostate cancer. They show that…”
Get full text

Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study by Archer, Stephanie, Babb de Villiers, Chantal, Scheibl, Fiona, Carver, Tim, Hartley, Simon, Lee, Andrew, Cunningham, Alex P, Easton, Douglas F, McIntosh, Jennifer G, Emery, Jon, Tischkowitz, Marc, Antoniou, Antonis C, Walter, Fiona M

“…There is a growing focus on the development of multi-factorial cancer risk prediction algorithms alongside tools that operationalise them for clinical use…”
Get full text

PALB2 , which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene by Rahman, Nazneen, Seal, Sheila, Thompson, Deborah, Kelly, Patrick, Renwick, Anthony, Elliott, Anna, Reid, Sarah, Spanova, Katarina, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, McGuffog, Lesley, Hanks, Sandra, Evans, D Gareth, Eccles, Diana, Easton, Douglas F, Stratton, Michael R

“…PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified…”
Get full text

The contributions of breast density and common genetic variation to breast cancer risk by Vachon, Celine M, Pankratz, V Shane, Scott, Christopher G, Haeberle, Lothar, Ziv, Elad, Jensen, Matthew R, Brandt, Kathleen R, Whaley, Dana H, Olson, Janet E, Heusinger, Katharina, Hack, Carolin C, Jud, Sebastian M, Beckmann, Matthias W, Schulz-Wendtland, Ruediger, Tice, Jeffrey A, Norman, Aaron D, Cunningham, Julie M, Purrington, Kristen S, Easton, Douglas F, Sellers, Thomas A, Kerlikowske, Karla, Fasching, Peter A, Couch, Fergus J

“…We evaluated whether a 76-locus polygenic risk score (PRS) and Breast Imaging Reporting and Data System (BI-RADS) breast density were independent risk factors…”
Get full text

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes by Easton, Douglas F., Deffenbaugh, Amie M., Pruss, Dmitry, Frye, Cynthia, Wenstrup, Richard J., Allen-Brady, Kristina, Tavtigian, Sean V., Monteiro, Alvaro N.A., Iversen, Edwin S., Couch, Fergus J., Goldgar, David E.

“…Mutation screening of the breast and ovarian cancer–predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice…”
Get full text

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles by Rahman, Nazneen, Seal, Sheila, Thompson, Deborah, Renwick, Anthony, Elliott, Anna, Kelly, Patrick, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, Ahmed, Munaza, Spanova, Katarina, North, Bernard, McGuffog, Lesley, Evans, D Gareth, Eccles, Diana, Easton, Douglas F, Stratton, Michael R

“…We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2…”
Get full text

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis by Nead, Kevin T, Sharp, Stephen J, Thompson, Deborah J, Painter, Jodie N, Savage, David B, Semple, Robert K, Barker, Adam, Perry, John R B, Attia, John, Dunning, Alison M, Easton, Douglas F, Holliday, Elizabeth, Lotta, Luca A, O'Mara, Tracy, McEvoy, Mark, Pharoah, Paul D P, Scott, Rodney J, Spurdle, Amanda B, Langenberg, Claudia, Wareham, Nicholas J, Scott, Robert A

“…Insulinemia and type 2 diabetes (T2D) have been associated with endometrial cancer risk in numerous observational studies. However, the causality of these…”
Get full text

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14 by Ruark, Elise, Seal, Sheila, McDonald, Heather, Zhang, Feng, Elliot, Anna, Lau, KingWai, Perdeaux, Elizabeth, Rapley, Elizabeth, Eeles, Rosalind, Peto, Julian, Kote-Jarai, Zsofia, Muir, Kenneth, Nsengimana, Jeremie, Shipley, Janet, Bishop, D Timothy, Stratton, Michael R, Easton, Douglas F, Huddart, Robert A, Rahman, Nazneen, Turnbull, Clare

“…Clare Turnbull and colleagues identify nine new susceptibility loci for testicular germ-cell tumor. The newly identified risk regions include variants near…”
Get full text

Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks by Wolfson, Michael, Gribble, Steve, Pashayan, Nora, Easton, Douglas F., Antoniou, Antonis C., Lee, Andrew, van Katwyk, Sasha, Simard, Jacques

“…Purpose Breast cancer risk has conventionally been assessed using family history (FH) and rare high/moderate penetrance pathogenic variants (PVs), notably in…”
Get full text

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk by Sieh, Weiva, Rothstein, Joseph H., Klein, Robert J., Alexeeff, Stacey E., Sakoda, Lori C., Jorgenson, Eric, McBride, Russell B., Graff, Rebecca E., McGuire, Valerie, Achacoso, Ninah, Acton, Luana, Liang, Rhea Y., Lipson, Jafi A., Rubin, Daniel L., Yaffe, Martin J., Easton, Douglas F., Schaefer, Catherine, Risch, Neil, Whittemore, Alice S., Habel, Laurel A.

“…Mammographic density (MD) phenotypes are strongly associated with breast cancer risk and highly heritable. In this GWAS meta-analysis of 24,192 women, we…”
Get full text

A genome-wide association study of testicular germ cell tumor by Stratton, Michael R, Rapley, Elizabeth A, Turnbull, Clare, Al Olama, Ali Amin, Dermitzakis, Emmanouil T, Linger, Rachel, Huddart, Robert A, Renwick, Anthony, Hughes, Deborah, Hines, Sarah, Seal, Sheila, Morrison, Jonathan, Nsengimana, Jeremie, Deloukas, Panagiotis, Rahman, Nazneen, Bishop, D Timothy, Easton, Douglas F

“…We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and…”
Get full text

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease by Rubinsztein, David C, Ravikumar, Brinda, Vacher, Coralie, Berger, Zdenek, Davies, Janet E, Luo, Shouqing, Oroz, Lourdes G, Scaravilli, Francesco, Easton, Douglas F, Duden, Rainer, O'Kane, Cahir J

“…Huntington disease is one of nine inherited neurodegenerative disorders caused by a polyglutamine tract expansion. Expanded polyglutamine proteins accumulate…”
Get full text