Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry
作者： C. Snyder , K. Metcalfe , V. Sopik , R. Royer , S. Zhang
DOI: 10.1007/S10549-015-3347-X
关键词:
摘要: The purpose of this study is to determine the prevalence PALB2 mutations among breast cancer families from United States. gene was screened for in 90 familial patients Creighton University Breast Cancer Family Registry. These had previously tested negative BRCA1 and BRCA2. Two (2.2 %) were found carry a truncating mutation (c.2411_2412delCT c.2053delC). Both probands diagnosed with before age 35 each three relatives cancer. Mutations are less common than BRCA2 patients. However, testing useful adjunct undergoing
springer.com
elsevier.com
sci-hub.se 参考文章(14)
Priscilla H Fernandes, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Shelly Cummings, Aaron Theisen, Sonia Chen, Jeffrey Trost, Benjamin B Roa, None, Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer. Cancer. ,vol. 120, pp. 963- 967 ,(2014) , 10.1002/CNCR.28504
Nadine Tung, Chiara Battelli, Brian Allen, Rajesh Kaldate, Satish Bhatnagar, Karla Bowles, Kirsten Timms, Judy E. Garber, Christina Herold, Leif Ellisen, Jill Krejdovsky, Kim DeLeonardis, Kristin Sedgwick, Kathleen Soltis, Benjamin Roa, Richard J. Wenstrup, Anne-Renee Hartman, Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel Cancer. ,vol. 121, pp. 25- 33 ,(2015) , 10.1002/CNCR.29010
Silvia Casadei, Barbara M. Norquist, Tom Walsh, Sunday Stray, Jessica B. Mandell, Ming K. Lee, John A. Stamatoyannopoulos, Mary-Claire King, Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer Cancer Research. ,vol. 71, pp. 2222- 2229 ,(2011) , 10.1158/0008-5472.CAN-10-3958
Hannele Erkko, Bing Xia, Jenni Nikkilä, Johanna Schleutker, Kirsi Syrjäkoski, Arto Mannermaa, Anne Kallioniemi, Katri Pylkäs, Sanna-Maria Karppinen, Katrin Rapakko, Alexander Miron, Qing Sheng, Guilan Li, Henna Mattila, Daphne W Bell, Daniel A Haber, Mervi Grip, Mervi Reiman, Arja Jukkola-Vuorinen, Aki Mustonen, Juha Kere, Lauri A Aaltonen, Veli-Matti Kosma, Vesa Kataja, Ylermi Soini, Ronny I Drapkin, David M Livingston, Robert Winqvist, None, A recurrent mutation in PALB2 in Finnish cancer families Nature. ,vol. 446, pp. 316- 319 ,(2007) , 10.1038/NATURE05609
Agnieszka Dansonka-Mieszkowska, Anna Kluska, Joanna Moes, Michalina Dabrowska, Dorota Nowakowska, Anna Niwinska, Pawel Derlatka, Krzysztof Cendrowski, Jolanta Kupryjanczyk, A novel germline PALB2 deletion in Polish breast and ovarian cancer patients BMC Medical Genetics. ,vol. 11, pp. 20- 20 ,(2010) , 10.1186/1471-2350-11-20
Tú Nguyen-Dumont, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Zhi L Teo, Roger Li, Bernard J Pope, Mary Beth Terry, Saundra S Buys, Mary Daly, John L Hopper, Ingrid Winship, David E Goldgar, Daniel J Park, Melissa C Southey, None, Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry. Breast Cancer Research and Treatment. ,vol. 149, pp. 547- 554 ,(2015) , 10.1007/S10549-014-3260-8
David B. Zhen, Kari G. Rabe, Steven Gallinger, Sapna Syngal, Ann G. Schwartz, Michael G. Goggins, Ralph H. Hruban, Michele L. Cote, Robert R. McWilliams, Nicholas J. Roberts, Lisa A. Cannon-Albright, Donghui Li, Kelsey Moyes, Richard J. Wenstrup, Anne-Renee Hartman, Daniela Seminara, Alison P. Klein, Gloria M. Petersen, BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: A PACGENE study Genetics in Medicine. ,vol. 17, pp. 569- 577 ,(2015) , 10.1038/GIM.2014.153
Aritro Sen, Stephen R Hammes, Just when you thought it was safe to go into the membrane: the growing complexities of extra-nuclear progesterone signaling. Breast Cancer Research. ,vol. 12, pp. 109- 109 ,(2010) , 10.1186/BCR2580
H. Li, R. Durbin, Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics. ,vol. 25, pp. 1754- 1760 ,(2009) , 10.1093/BIOINFORMATICS/BTP324
Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper, kConFab msouthey@ unimelb. edu. au, Breast Cancer Family Registry msouthey@ unimelb. edu. au, None, A PALB2 mutation associated with high risk of breast cancer Breast Cancer Research. ,vol. 12, pp. 1- 10 ,(2010) , 10.1186/BCR2796