Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Lynn Anne Burbidge"'
Autor:
S. Ceulemans, B. Strike, R.R. Kaldate, M. Landon, Lynn Anne Burbidge, B. Roa, D.S. Saraiya, B. Abbott, C. Arnell, J.Q. Ji, A. Theisen, P.H. Fernandes, K. Moyes
Publikováno v:
Clinical Genetics. 87:368-372
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations in the MAP testing strategy and testing criteria, it is possible that MAP is bein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9caf7f14f9c6afeb791716e88e12aa82
https://doi.org/10.1111/cge.12375
https://doi.org/10.1111/cge.12375
Autor:
K. Moyes, J.M. Eggington, Dmitry Pruss, E.T. Rosenthal, A. Theisen, C. Arnell, K.R. Bowles, S. Sizemore, Richard J. Wenstrup, J. Bennett, B. Roa, J. Saam, Lynn Anne Burbidge, L. Esterling, S. Manley
Publikováno v:
Clinical Genetics. 86:229-237
Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::923f4480c494678853951a2e897d220a
https://doi.org/10.1111/cge.12315
https://doi.org/10.1111/cge.12315
Autor:
Jeffrey T. Trost, Eric Rosenthal, Benjamin B. Roa, Richard J. Wenstrup, Jeremy Schoenberger, Christopher Arnell, Thaddeus Judkins, Wade Geary, Toby Barrus, Lynn Anne Burbidge
Publikováno v:
Cancer
BACKGROUND: Current estimates of the contribution of large rearrangement (LR) mutations in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) genes responsible for hereditary breast and ovarian cancer are based on limit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e6aaa8a5c0f1ba76b7d8805427a815f
http://europepmc.org/articles/PMC3532625
http://europepmc.org/articles/PMC3532625
Autor:
E. Francis Cook, Ewout W. Steyerberg, Shilpa Grover, Lynn Anne Burbidge, Richard J. Wenstrup, Sapna Syngal, Akriti Dewanwala, Fay Kastrinos
Publikováno v:
JAMA-Journal of the American Medical Association, 308(5), 485-492. American Medical Association
Context Patients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes. Objectives To determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ebd3f29d7db1efc246aab161532ff4
https://pure.eur.nl/en/publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e
https://pure.eur.nl/en/publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e
Autor:
Lynn Anne Burbidge, Michael J. Hall, Walter W. Noll, Richard J. Wenstrup, Thomas Scholl, Julia Reid, Dmitry Pruss, Cynthia Frye, Amie M. Deffenbaugh, Brian E. Ward
Publikováno v:
Cancer. 115:2222-2233
Background In women at increased risk for breast and ovarian cancer, the identification of a BRCA1/2 mutation has important implications for screening and prevention counseling. Uncertainty regarding the role of BRCA1/2 testing in high-risk women fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c55296b6cf935740f99c8fd992d8b106
https://doi.org/10.1002/cncr.24200
https://doi.org/10.1002/cncr.24200
Autor:
Amanda B. Spurdle, Andrea Tesoriero, Ross I. Brinkworth, Amie M. Deffenbaugh, Sunil R. Lakhani, Margaret C. Cummings, Sue Healey, Melissa C. Southey, Paul Waring, Tom Scholl, Thad Judkins, Melissa A. Brown, David E. Goldgar, Paul K. Lovelock, Anna Marsh, Georgia Chenevix-Trench, Douglas F. Easton, Dmitry Pruss, Ming Wong, John L. Hopper, Anna Bekessy, Koulis Yannoukakos, Sean V. Tavtigian, Lynn Anne Burbidge, Helene Renard
Publikováno v:
Cancer Research. 66:2019-2027
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68579492b8059fd7250c2bd2303ff2d0
https://doi.org/10.1158/0008-5472.can-05-3546
https://doi.org/10.1158/0008-5472.can-05-3546
Autor:
Elena M. Stoffel, Lynn Anne Burbidge, David H. Stockwell, Brant C. Hendrickson, John Tazelaar, Ewout W. Steyerberg, Amie M. Deffenbaugh, Thomas Scholl, J. Balmaña, Sapna Syngal, Julia Reid, Brian E. Ward
Publikováno v:
JAMA-Journal of the American Medical Association, 296(12), 1469-1478. American Medical Association
textabstractContext: Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2. Objectives: To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bca8ef622be3b69bddb6aac33250025
https://doi.org/10.1001/jama.296.12.1469
https://doi.org/10.1001/jama.296.12.1469
Autor:
Fay Kastrinos, Rowena Mercado, Judith Balmaña, Sapna Syngal, James M. Church, Kimberly D. Siegmund, Richard J. Wenstrup, Ewout W. Steyerberg, Lynn Anne Burbidge, Mark A. Jenkins, Spring Holter, Stephen N. Thibodeau, Steven Gallinger, Noralane M. Lindor
Publikováno v:
Gastroenterology, 140(1), 73-+. W.B. Saunders
Background & Aims We developed and validated a model to estimate the risks of mutations in the mismatch repair (MMR) genes MLH1 , MSH2 , and MSH6 based on personal and family history of cancer. Methods Data were analyzed from 4539 probands tested for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d0f0696fbb94471cf448f681b8e598
https://pure.eur.nl/en/publications/23f39921-c91a-4c05-8a59-735576bcd956
https://pure.eur.nl/en/publications/23f39921-c91a-4c05-8a59-735576bcd956
Autor:
Benoît Leclair, Kristin Pyne, Kristilyn Eliason, Thaddeus Judkins, Amie E. Deffenbaugh, Brian E. Ward, Brant C. Hendrickson, Thomas Scholl, Lynn Anne Burbidge, Benjamin D. Ward
Publikováno v:
Genes, chromosomescancer. 43(3)
Many rearrangement mutations in the BRCA1 gene have been identified. It is becoming clear that some of these mutations are prevalent, and therefore their detection is necessary in order for clinical genetic tests to have high sensitivity. Published i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8644a05e98eee465a4adf41456d2ddca
https://pubmed.ncbi.nlm.nih.gov/15846789
https://pubmed.ncbi.nlm.nih.gov/15846789
Autor:
Brian L. Abbott, Kelsey Moyes, Rajesh R. Kaldate, Michelle Landon, Kayon Williams, Jennifer Saam, Christopher Arnell, Brian Strike, Lynn Anne Burbidge
Publikováno v:
Journal of Clinical Oncology. 32:1542-1542
1542 Background: Patients with Hereditary Breast and Ovarian cancer (HBOC) or Lynch syndrome (LS) hereditary cancer syndromes are at a greater risk for developing second cancers after an initial ca...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e62e199fc782863a4c229874aceff9d0
https://doi.org/10.1200/jco.2014.32.15_suppl.1542
https://doi.org/10.1200/jco.2014.32.15_suppl.1542