Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels

Autor: Ava Kwong, Edmond S. K. Ma, Hextan Y.S. Ngan, James M. Ford, Allison W. Kurian, Tsun Leung Chan, Vivian Y. Shin, Jessica Lo, Michael Field, Edmund Tai, J. N. Weitzel, Susan M. Domchek, Laura J. Esserman, John C.W. Ho, P.H. Lin

Publikováno v: Oncotarget
Oncotarget, vol 9, iss 8

BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f55261b643e18a624b2acb85c701ebc
https://doi.org/10.18632/oncotarget.23471

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

Autor: J. Carmichael, Michael Friedlander, Mark E. Robson, Judy Garber, M. W. Audeh, Gillian Mitchell, Niklas Loman, Andrew Tutt, Susan M. Domchek, Mark Wickens, J. N. Weitzel, H. M. Earl, Andrew M Wardley, Rita K. Schmutzler, B. K. Arun

Publikováno v: The Lancet. 376:235-244

Olaparib, a novel, orally active poly(ADP-ribose) polymerase (PARP) inhibitor, induced synthetic lethality in BRCA-deficient cells. A maximum tolerated dose and initial signal of efficacy in BRCA-deficient ovarian cancers have been reported. We there

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a67599fe56c81646e5433afec56c2e0b
https://doi.org/10.1016/s0140-6736(10)60892-6

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

Autor: Christine Maugard, Marie E. Wood, Albert E. Chudley, G. Rennen, Wendy McKinnon, Parviz Ghadirian, Jan Klijn, Siranoush Manoukian, Steven A. Narod, Susan M. Domchek, Beth Y. Karlan, Kelly A. Metcalfe, W. S. Meschino, T Wagner, Ping Sun, Michael P. Osborne, Jacek Gronwald, Gordon B. Mills, M. Daly, Fergus J. Couch, Raluca N. Kurz, Nadine Tung, Howard M. Saal, Kevin Sweet, Sofia D. Merajver, B. Rosen, J. McLennan, Daphna Birenbaum-Carmeli, J. N. Weitzel, Shelly Cummings, Daniel Rayson, Eitan Friedman, Peter Ainsworth, Jan Lubinski, A. Eisen, Dominique Stoppa Lyonnet, David A. Fishman, Judy Garber, William D. Foulkes, Henry T. Lynch, Ruth Gershoni-Baruch, Dawna Gilchrist, Pål Møller, Charmaine Kim-Sing, J. M. Collee, Edmond G. Lemire

Publikováno v: International Journal of Cancer, 122(9), 2017-2022. Wiley-Liss Inc.

Several options for cancer prevention are available for, women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in women with mutations from 9 countries and exam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64c3c76ecfcb3983d9bf94d41f23348
https://pure.eur.nl/en/publications/19351477-5a99-4f27-96f1-fe0a813ca377

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

Autor: T Wagner, Kenneth Offit, Katherine L. Nathanson, Peter Devilee, Janet E. Olson, Ilyushik E, Lenka Foretova, Jacek Gronwald, Pascaline Berthet, Muhammad Usman Rashid, Isabelle Coupier, Noralane M. Lindor, T A Sellers, Alfons Meindl, Dieter Schaefer, Shirley Hodgson, Beatrix Versmold, Olufunmilayo I. Olopade, Susan M. Domchek, Christoph Engel, Olga M. Sinilnikova, Vernon S. Pankratz, Gail E. Tomlinson, David J. Hughes, Amanda B. Spurdle, Horst J, Jakub Lubiński, Maaike P.G. Vreeswijk, Gordon Glendon, Robert A. Vierkant, Francine Durocher, Frédéric Guénard, Henry T. Lynch, Douglas F. Easton, Mary B. Daly, Susan Peock, Åke Borg, Jacques Simard, Heli Nevanlinna, Georgia Chenevix-Trench, Irene L. Andrulis, M. Cook, Caroline Baynes, Steven A. Narod, Judy Garber, Mark H. Greene, J. N. Weitzel, Patrick J. Morrison, Anna Jakubowska, Johanna Tommiska, Kristiina Aittomäki, Hans F. A. Vasen, Claudine Isaacs, Csilla Szabo, Dominique Stoppa-Lyonnet, Fergus J. Couch, Michal Zikan, Backenhorn K, Christian Sutter, Diana Torres, Antonis C. Antoniou, Ute Hamann, Andrew K. Godwin, kConFab, Rita K. Schmutzler, Tomas Kirchhoff, Susan L. Neuhausen, Zachary S. Fredericksen, Agnès Hardouin, Timothy R. Rebbeck, J. P. Struewing, Mary Porteous

Publikováno v: Cancer epidemiology, biomarkersprevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 16(7)

The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e729af1ad692c81d0912e36f2eca59e
https://pubmed.ncbi.nlm.nih.gov/18006949

The HRAS1 minisatellite locus and risk of ovarian cancer

Autor: J N, Weitzel, S, Ding, G P, Larson, R A, Nelson, A, Goodman, E C, Grendys, H G, Ball, T G, Krontiris

Publikováno v: Cancer research. 60(2)

Approximately 10% of ovarian cancers are due to mutations in highly penetrant inherited cancer susceptibility genes. The highly polymorphic HRAS1 minisatellite locus, located just downstream from the proto-oncogene H-ras-1 on chromosome 11p, consists

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4a4029c653489db9b09c9a50649ab56c
https://pubmed.ncbi.nlm.nih.gov/10667571