Zobrazeno 1 - 10
of 41
pro vyhledávání: '"David E. Goldgar"'
Autor:
Graham G. Giles, Melissa C. Southey, Andrew Lonie, David E. Goldgar, Zhi Ling Teo, John L. Hopper, Ingrid Winship, Helen Tsimiklis, Khalid Mahmood, Tu Nguyen-Dumont, Maryam Mahmoodi, Fleur Hammet, Miroslav Kapuscinski, Alexis Roberge, Bernard J. Pope, Daniel J. Park
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-7 (2018)
BMC Cancer
BMC Cancer
Background Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in o
Autor:
Scott M. Weissman, Martha Quezado, Katia Nones, Manuel A. R. Ferreira, Florian Grimpen, Sue Healey, Kelly Hamman, Samantha Hansford, Kasmintan A. Schrader, Anne Marie Patch, Itzhak Avital, Daniel L. Worthley, Pardeep Kaurah, Robertson MacKenzie, Juliet D. French, Evangelos Bellos, Jun Li, Kevin P. Rioux, George Chong, Georgia Chenevix-Trench, Leonard Da Silva, Kathleen A. Calzone, Graeme Suthers, Deborah W. Neklason, Andrew D. Clouston, Hilary C. Martin, Paul S. Meltzer, Jone E. Sampson, Kerry Phillips, Oliver F. Bathe, Theo Heller, Nicola K. Poplawski, Stacey L. Edwards, Peter T. Simpson, Alireza Heravi-Moussavi, David G. Huntsman, Janine Senz, Mark Bettington, Jonathan Beesley, Nicci Wayte, Tamsin R M Lannagan, Xiaoqing Chen, Wendy S. Rubinstein, Lyn Schofield, David E. Goldgar, Christopher Koh, Noralane M. Lindor, Lachlan J. M. Coin, Marie Jeanjean, Joshua J. Waterfall, Pavel N. Pichurin, Amanda B. Spurdle, Sylviane Olschwang, John V. Pearson, Udo Rudloff, Fátima Carneiro, Nicola Waddell, Sunil R. Lakhani, Rita A. Busuttil, Susan L. Woods, Anna Newlin, Haran Sivakumaran, Natasha Di Costanzo, Aurélie Fabre, Xiaogang Wen, Geoffrey J. Faulkner, Jason Sang Hun Lee, Robert L. Walker, Cathy Kiraly-Borri, Peter J. Hulick, Marbin Pineda, Sean Davis, Alex Boussioutas, William D. Foulkes, Jacqueline Armstrong
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
International audience; Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 an
Autor:
Heather Thorne, Bing Jian Feng, Igor V. Makunin, Jonathan Ellis, Melissa C. Southey, kConFab Investigators, Ian G. Campbell, Jun Li, David E. Goldgar, Huong Meeks, Sue Healey, Judy Kirk, David Clouston, Georgia Chenevix-Trench, Gillian Mitchell
Publikováno v:
Journal of Medical Genetics. 53:34-42
Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown.We performed custom-designed targeted sequen
Autor:
Maryam Mahmoodi, Roger Li, Tu Nguyen-Dumont, Bernard J. Pope, John L. Hopper, Mary Beth Terry, Fleur Hammet, Melissa C. Southey, Saundra S. Buys, Mary B. Daly, Zhi Ling Teo, Ingrid Winship, David E. Goldgar, Helen Tsimiklis, Daniel J. Park
Publikováno v:
Breast Cancer Research and Treatment. 149:547-554
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with recent data showing that female breast cancer risks for PALB2 mutation carriers are comparable in magnitude to those for BRCA2 mutation carriers. This st
Autor:
Kayoko Tao, Hongyan Li, Sean V. Tavtigian, Nicola J. Camp, Kum Kum Khanna, Erin L. Young, Irene L. Andrulis, Bryony A. Thompson, Esther M. John, Igor V. Makunin, Jacqueline Lopez, David E. Goldgar, Georgia Chenevix-Trench, Jun Li
Publikováno v:
Breast cancer research and treatment. 166(3)
The main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order to identify novel susceptibility genes of moderate–high penetrance
Autor:
David E. Goldgar, Nancy Hamel, William D. Foulkes, Bing Jian Feng, Louis R. Bégin, Nassim Taherian, Tarek A. Bismar
Publikováno v:
Nature Reviews Urology. 10:116-122
A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the pre
Autor:
Friederike Gedge, David E. Goldgar, Elaine Lyon, Amit Phansalkar, Rong Mao, Jorge Robles, Pinar Bayrak-Toydemir, Jamie McDonald
Publikováno v:
Experimental and Molecular Pathology. 85:45-49
Clinical laboratories performing gene sequencing discover previously unreported and/or uncharacterized variants. Often these are missense or intronic mutations in which the contribution to disease cannot be predicted, and consequently these mutations
Autor:
D Du Sart, J Deschênes, Isabelle Thiffault, N Hamel, David E. Goldgar, E. MacNamara, Victoria Marcus, Shannon Cowie, Wendy S. Meschino, William D. Foulkes, D. Farber, Fabrice Odefrey, Steven A. Narod, Tuya Pal, George Chong, T Graham, A K Watters, Susan McVety
Publikováno v:
British Journal of Cancer
There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We describe the detailed characterisation of one kindred, MON1080, with 10 cases of BC or CRC invas
Publikováno v:
The American Journal of Human Genetics. 73:652-655
In many disease genes, a substantial fraction of all rare variants detected cannot yet be used for genetic counselling because of uncertainty about their association with disease. One approach to the characterization of these unclassified variants is
Autor:
Hervé Puy, Martin Hergersberg, Jean Charles Deybach, Elisabeth I. Minder, Xiaoye Schneider-Yin, Urszula B. Rüfenacht, Macé M. Schuurmans, David E. Goldgar
Publikováno v:
Human Heredity. 54:69-81
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase gene (PBGD). Nearly 60% of all Swiss AIP patients carry a nonsense mutation W283X (G7916→A). In France, the preva