Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers

Autor: Kenneth, Offit, Shlomit, Gilad, Shoshana, Paglin, Prema, Kolachana, Laila C, Roisman, Khedoudja, Nafa, Vincent, Yeugelewitz, Maria, Gonzales, Mark, Robson, Deborah, McDermott, Heather Hanson, Pierce, Noah D, Kauff, Paz, Einat, Suresh, Jhanwar, Jaya M, Satagopan, Carole, Oddoux, Nathan, Ellis, Rami, Skaliter, Joachim, Yahalom

Publikováno v: Clinical cancer research : an official journal of the American Association for Cancer Research. 8(12)

In this study, we first sought to evaluate whether individuals heterozygous for ATM mutations may have an increased susceptibility to radiation-induced breast cancer (BC) after treatment for Hodgkin's disease (HD). We next sought to determine the fre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::77916c32e65d1f2adc5ba672f3e81e65
https://pubmed.ncbi.nlm.nih.gov/12473594

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

Autor: Dieter Niederacher, Tim Bishop, SA Gayther, Heli Nevanlinna, N. J. Miller, M. W. Beckmann, Javier Benitez, M. Van Der Looij, Catherine Noguès, Kenneth Offit, Catherine M. Phelan, Katherine L. Nathanson, E. Sensi, B. Cohen, B. A.P. Ponder, R. Lidereau, Sylvie Mazoyer, Fergus J. Couch, Ute Hamann, M. Steel, Hilal Özdağ, David E. Barton, E. Hampton, Jean-Philippe Peyrat, E. Olah, William D. Foulkes, Dominique Stoppa-Lyonnet, Eitan Friedman, R. van Eijk, Teresa Wagner, B. Betz, A. P. Sappino, Barbara L. Weber, C. Machavoine, Ludwine Messiaen, Kathleen Claes, Ellen Solomon, David E. Goldgar, R. S. Sverdlov, Ketil Heimdal, X. Durando, Olga M. Sinilnikova, Graham R. Taylor, J. Leary, C. Bonnardel, P. Maillet, Åke Borg, Gilbert M. Lenoir, E. Fleischmann, Jacques Simard, Christine Maugard, M. Robinson, Pål Møller, Thomas A. Sellers, V. Caux, B. Kuschel, R. B. van der Luijt, C. Audoynaud, M. Desrochers, Yves-Jean Bignon, Deborah McDermott, Paolo Radice, Elizabeth M. Rohlfs, Pia Vahteristo, Jeff Boyd, Maria A. Caligo, M. Domenech, Brigitte Bressac-de Paillerets, Montserrat Baiget, N. Collins, Mehmet Ozturk, Susan L. Neuhausen, Judy Kirk, M. Stratton, Meredith A. Unger, A. Osorio, Elaine Kwan, Peter Devilee, M. Montagna, Sophie Gad, A. Catteau, J. Cortes, Tayfun Ozcelik, Orland Diez, N. Puget, Steven A. Narod

Publikováno v: American Journal of Human Genetics

Cataloged from PDF version of article. Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0facb7e4134ae5d14804727829af0fe0