A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
Easton, Douglas F., Deffenbaugh, Amie M., Pruss, Dmitry, Frye, Cynthia, Wenstrup, Richard J., Allen-Brady, Kristina, Tavtigian, Sean V., Monteiro, Alvaro N.A., Iversen, Edwin S., Couch, Fergus J., Goldgar, David E.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer
Hall, Michael J., Reid, Julia E., Burbidge, Lynn A., Pruss, Dmitry, Deffenbaugh, Amie M., Frye, Cynthia, Wenstrup, Richard J., Ward, Brian E., Scholl, Thomas A., Noll, Walter W.
Published in Cancer (15.05.2009)
Published in Cancer (15.05.2009)
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Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N.A., Tavtigian, Sean V., Couch, Fergus J.
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Journal Article
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome
Balmaña, Judith, Stockwell, David H, Steyerberg, Ewout W, Stoffel, Elena M, Deffenbaugh, Amie M, Reid, Julia E, Ward, Brian, Scholl, Thomas, Hendrickson, Brant, Tazelaar, John, Burbidge, Lynn Anne, Syngal, Sapna
Published in JAMA : the journal of the American Medical Association (27.09.2006)
Published in JAMA : the journal of the American Medical Association (27.09.2006)
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BRCA1/2 Genetic Testing in the Community Setting
CHEN, Wendy Y, GARBER, Judy E, HIGHAM, Suzanne, SCHNEIDER, Katherine A, DAVIS, Katie B, DEFFENBAUGH, Amie M, FRANK, Thomas S, GELMAN, Rebecca S, LI, Frederick P
Published in Journal of clinical oncology (15.11.2002)
Published in Journal of clinical oncology (15.11.2002)
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Functional assays for classification of BRCA2 variants of uncertain significance
Farrugia, Daniel J, Agarwal, Mukesh K, Pankratz, Vernon S, Deffenbaugh, Amie M, Pruss, Dmitry, Frye, Cynthia, Wadum, Linda, Johnson, Kiley, Mentlick, Jennifer, Tavtigian, Sean V, Goldgar, David E, Couch, Fergus J
Published in Cancer research (Chicago, Ill.) (01.05.2008)
Published in Cancer research (Chicago, Ill.) (01.05.2008)
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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
CHENEVIX-TRENCH, Georgia, HEALEY, Sue, SCHOLL, Tom, BEKESSY, Anna, MARSH, Anna, LOVELOCK, Paul, WONG, Ming, TESORIERO, Andrea, RENARD, Helene, SOUTHEY, Melissa, HOPPER, John L, YANNOUKAKOS, Koulis, LAKBANI, Sunil, BROWN, Melissa, EASTON, Douglas, TAVTIGIAN, Sean V, GOLDGAR, David, SPURDLE, Amanda B, WARING, Paul, CUMMINGS, Margaret, BRINKWORTH, Ross, DEFFENBAUGH, Amie M, BURBIDGE, Lynn Anne, PRUSS, Dmitry, JUDKINS, Thad
Published in Cancer research (Chicago, Ill.) (15.02.2006)
Published in Cancer research (Chicago, Ill.) (15.02.2006)
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Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
JUDKINS, Thaddeus, HENDRICKSON, Brant C, DEFFENBAUGH, Amie M, ELIASON, Kristilyn, LECLAIR, Benoit, NORTON, Michael J, WARD, Brian E, PRUSS, Dmitri, SCHOLL, Thomas
Published in Cancer research (Chicago, Ill.) (01.11.2005)
Published in Cancer research (Chicago, Ill.) (01.11.2005)
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Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1
Judkins, Thaddeus, Hendrickson, Brant C, Deffenbaugh, Amie M, Scholl, Thomas
Published in Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis (03.06.2005)
Published in Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis (03.06.2005)
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Identification of germline 185delAG BRCA1 mutations in non‐Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado
Mullineaux, Lisa G., Castellano, Teresa M., Shaw, Jeffrey, Axell, Lisen, Wood, Marie E., Diab, Sami, Klein, Catherine, Sitarik, Mark, Deffenbaugh, Amie M., Graw, Sharon L.
Published in Cancer (01.08.2003)
Published in Cancer (01.08.2003)
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A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with Widely Dispersed Primer Sets
Ward, Benjamin D., Hendrickson, Brant C., Judkins, Thaddeus, Deffenbaugh, Amie M., Leclair, Benoît, Ward, Brian E., Scholl, Thomas
Published in The Journal of molecular diagnostics : JMD (01.02.2005)
Published in The Journal of molecular diagnostics : JMD (01.02.2005)
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Clinical characteristics of individuals with germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
FRANK, Thomas S, DEFFENBAUGH, Amie M, CRITCHFIELD, Gregory C, REID, Julia E, HULICK, Mark, WARD, Brian E, LINGENFELTER, Beth, GUMPPER, Kathi L, SCHOLL, Thomas, TAVTIGIAN, Sean V, PRUSS, Dmitry R
Published in Journal of clinical oncology (15.03.2002)
Published in Journal of clinical oncology (15.03.2002)
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Characterization of common BRCA1 and BRCA2 variants
Deffenbaugh, Amie M, Frank, Thomas S, Hoffman, Michael, Cannon-Albright, Lisa, Neuhausen, Susan L
Published in Genetic testing (2002)
Published in Genetic testing (2002)
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Frequency of germline and somatic BRCA1 mutations in ovarian cancer
BERCHUCK, A, HERON, K.-A, FRANK, T. S, CARNEY, M. E, LANCASTER, J. M, FRASER, E. G, VINSON, V. L, DEFFENBAUGH, A. M, MIRON, A, MARKS, J. R, FUTREAL, P. A
Published in Clinical cancer research (01.10.1998)
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Published in Clinical cancer research (01.10.1998)
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