P050: Establishment of a novel functional assay to test ATM variants of uncertain significance by Ishor Thalpa, Kathleen Clark, Sean Tavtigian

Get full text

Design considerations for massively parallel sequencing studies of common familial cancers by Feng BJ, Tavtigian SV, Southey MC, Goldgar DE

Get full text

P534: Investigating independence of PS3 and PM1 evidence categories using case-control data in BRCA1 by Scott Pew, Madison Baugh, Julie Boyle, David Goldgar, Sean Tavtigian

Get full text

P721: Computational tool performance across BRCA1: A case-control informed analysis by Scott Pew, Madison Wiffler, Julie Boyle, Sean Tavtigian, David Goldgar

Get full text

Design considerations for massively parallel sequencing studies of complex human disease. by Bing-Jian Feng, Sean V Tavtigian, Melissa C Southey, David E Goldgar

Get full text

Functional impact of missense variants in BRCA1 predicted by supervised learning. by Rachel Karchin, Alvaro N A Monteiro, Sean V Tavtigian, Marcelo A Carvalho, Andrej Sali

Get full text

P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification by Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm

Get full text

P364: Exploring the effects of a point mutation in the 5’ UTR of APC found in a family with colon cancer by Brendon Young, Sean Tavtigian, Kathleen Clark, Megan Keener, Deborah Neklason, Austin Wood, Wendy McKinnon, Marc Greenblatt

Get full text

P644: Can computational tools generate greater than ACMG supporting evidence? A circularity-free analysis using ATM, CHEK2, and breast cancer case-control data by Julie Boyle, Siqi Hu, Scott Pew, Colin Young, Bing-Jian Feng, Colin Mackenzie, Mia Hashibe, Sean Tavtigian

Get full text

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the <it>TP53 </it>locus by De Silva Deepika, Le Calvez-Kelm Florence, Nguyen-Dumont Tú, Voegele Catherine, Gemignani Federica, Garritano Sonia, Lesueur Fabienne, Landi Stefano, Tavtigian Sean V

Get full text

Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors. by Hector Hernandez-Vargas, Marie-Pierre Lambert, Florence Le Calvez-Kelm, Géraldine Gouysse, Sandrine McKay-Chopin, Sean V Tavtigian, Jean-Yves Scoazec, Zdenko Herceg

Get full text

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2 by Sinilnikova Olga, McKay-Chopin Sandrine, Forey Nathalie, Michelon Jocelyne, Jordheim Lars P, Nguyen-Dumont Tú, Le Calvez-Kelm Florence, Southey Melissa C, Tavtigian Sean V, Lesueur Fabienne

Get full text

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants by Thompson B, Goldgar D, Paterson C, Clendenning M, Walters R, Arnold S, Parsons M, Walsh M, Hopper J, Jenkins M, Greenblatt M, Buchanan D, Young J, Tavtigian S, Spurdle A

Get full text

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families by Pichette Roxane, Ouellette Geneviève, Lespérance Bernard, Lépine Jean, Laframboise Rachel, Chiquette Jocelyne, Labuda Damian, Bessette Paul, Sinilnikova Olga, Soucy Penny, Labrie Yvan, Durocher Francine, Plante Marie, Tavtigian Sean V, Simard Jacques

Get full text

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor by Lisa A. Cannon‐Albright, Craig C. Teerlink, Jeffrey Stevens, Angela K. Snow, Bryony A. Thompson, Russell Bell, Kim N. Nguyen, Nykole R. Sargent, Wendy K. Kohlmann, Deborah W. Neklason, Sean V. Tavtigian

Get full text

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. by Florence Le Calvez-Kelm, Javier Oliver, Francesca Damiola, Nathalie Forey, Nivonirina Robinot, Geoffroy Durand, Catherine Voegele, Maxime P Vallée, Graham Byrnes, Breast Cancer Family Registry, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian, Fabienne Lesueur

Get full text

Pancreatic cancer as a sentinel for hereditary cancer predisposition by Erin L. Young, Bryony A. Thompson, Deborah W. Neklason, Matthew A. Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh Neumayer, David E. Goldgar, Sean J. Mulvihill, Lisa A. Cannon-Albright, Sean V. Tavtigian

Get full text

Identification of new breast cancer predisposition genes via whole exome sequencing by Southey MC, Park DJ, Lesueur F, Odefrey F, Nguyen-Dumont T, Hammet F, Neuhausen SL, John EM, Andrulis IL, Chenevix-Trench G, Baglietto L, Le Calvez-Kelm F, Pertesi M, Lonie A, Pope B, Sinilnikova O, Tsimiklis H, Giles GG, Hopper JL, Tavtigian SV, Goldgar DE

Get full text

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil by Edenir Inêz Palmero, Bárbara Alemar, Lavínia Schüler-Faccini, Pierre Hainaut, Carlos Alberto Moreira-Filho, Ingrid Petroni Ewald, Patricia Koehler dos Santos, Patricia Lisbôa Izetti Ribeiro, Cristina Brinkmann de Oliveira Netto, Florence Le Calvez Kelm, Sean Tavtigian, Silvia Liliana Cossio, Roberto Giugliani, Maira Caleffi, Patricia Ashton-Prolla

Get full text

P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel by Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch

Get full text