Identification of women with an increased risk of developing radiation-induced breast cancer

por Cardis, Elisabeth, Hall, Janet, Tavtigian, Sean V
Publicado 2007

International Agency for Research on Cancer Workshop on 'Expression array analyses in breast cancer taxonomy'

por Tavtigian, Sean V, Pierotti, Marco A, Børresen-Dale, Anne-Lise
Publicado 2006

Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

por Feng, Bing-Jian, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
Publicado 2011

Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z

por Chen, Yang, Beck, Audrey, Davenport, Christina, Chen, Yuan, Shattuck, Donna, Tavtigian, Sean V
Publicado 2005

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

por Mathe, Ewy, Olivier, Magali, Kato, Shunsuke, Ishioka, Chikashi, Hainaut, Pierre, Tavtigian, Sean V.
Publicado 2006

Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning

por Karchin, Rachel, Monteiro, Alvaro N. A, Tavtigian, Sean V, Carvalho, Marcelo A, Sali, Andrej
Publicado 2007

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but...

por Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K, Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B, Brown, Melissa A
Publicado 2005

Mobile element insertions and associated structural variants in longitudinal breast cancer samples

por Steely, Cody J., Russell, Kristi L., Feusier, Julie E., Qiao, Yi, Tavtigian, Sean V., Marth, Gabor, Jorde, Lynn B.
Publicado 2021

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework

por Tavtigian, Sean V., Greenblatt, Marc S., Harrison, Steven M., Nussbaum, Robert L., Prabhu, Snehit A., Boucher, Kenneth M., Biesecker, Leslie G.
Publicado 2018

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

por Garritano, Sonia, Gemignani, Federica, Voegele, Catherine, Nguyen-Dumont, Tú, Le Calvez-Kelm, Florence, De Silva, Deepika, Lesueur, Fabienne, Landi, Stefano, Tavtigian, Sean V
Publicado 2009

Hepatocellular Carcinoma Displays Distinct DNA Methylation Signatures with Potential as Clinical Predictors

por Hernandez-Vargas, Hector, Lambert, Marie-Pierre, Le Calvez-Kelm, Florence, Gouysse, Géraldine, McKay-Chopin, Sandrine, Tavtigian, Sean V., Scoazec, Jean-Yves, Herceg, Zdenko
Publicado 2010

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

por Thompson, Bryony A., Walters, Rhiannon, Parsons, Michael T., Dumenil, Troy, Drost, Mark, Tiersma, Yvonne, Lindor, Noralane M., Tavtigian, Sean V., de Wind, Niels, Spurdle, Amanda B.
Publicado 2020

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2

por Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne
Publicado 2011

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

por Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Publicado 2013

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

por Durocher, Francine, Labrie, Yvan, Soucy, Penny, Sinilnikova, Olga, Labuda, Damian, Bessette, Paul, Chiquette, Jocelyne, Laframboise, Rachel, Lépine, Jean, Lespérance, Bernard, Ouellette, Geneviève, Pichette, Roxane, Plante, Marie, Tavtigian, Sean V, Simard, Jacques
Publicado 2006

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

por Vallée, Maxime P., Di Sera, Tonya L., Nix, David A., Paquette, Andrew M., Parsons, Michael T., Bell, Russel, Hoffman, Andrea, Hogervorst, Frans B. L., Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Publicado 2016

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

por Cannon‐Albright, Lisa A., Teerlink, Craig C., Stevens, Jeffrey, Snow, Angela K., Thompson, Bryony A., Bell, Russell, Nguyen, Kim N., Sargent, Nykole R., Kohlmann, Wendy K., Neklason, Deborah W., Tavtigian, Sean V.
Publicado 2020

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

por Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E.
Publicado 2022

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

por Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Investigators, kConFab, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
Publicado 2007

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

por Le Calvez-Kelm, Florence, Oliver, Javier, Damiola, Francesca, Forey, Nathalie, Robinot, Nivonirina, Durand, Geoffroy, Voegele, Catherine, Vallée, Maxime P., Byrnes, Graham, Registry, Breast Cancer Family, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M., Tavtigian, Sean V., Lesueur, Fabienne
Publicado 2012