Scientific Posters

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance

• Title: Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance
• Authors: Paulo C. M. Lyra, Jr.; Lucas Dalcolmo; Michael Parsons; Samuel Brito; Thales C. Nepomuceno; Nam Phuong Nguyen; Marcy E. Richardson; Geise de Oliveira; Joao da Silva; Laura Caleca; Chunling Hu; Maria Rossing; Aditi Hazra; Alexandra Martins; Sandrine Caputo; Gael Millot; Joanne NgeowYuen Yie; Marcelo A. Carvalho; Melissa Cline; Paulo Radice; Rachel Carlsen; Romy Mesman; Valentina Zampiga; Vijay Joseph; Shyam Sharan; Maaike Vreeswijk; Amanda Spurdle; Fergus J. Couch; Alvaro N.A. Monteiro
• Collaborators: ENIGMA
• Conference: BRCA 2025
• Date: Tuesday, May 06, 2025 2:45pm-4:15pm

Session #7325/7

Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project

• Authors: Paulo Lyra Jr; Lucas Dalcolmo; Michael Parsons; Thales Nepomuceno; Samuel Brito; Phuong Nam; Geise de Oliveira; Joao da Silva; Laura Caleca; Tanisha Taneja; Chunling Hu; Marcy E. Richardson; Maria Rossing; Aditi Hazra; Alexandra Martins; Sandrine Caputo; Gael Millot; Joanne Ngeow Yuen Yie; Marcelo A. Carvalho; Melissa Cline; Paulo Radice; Rachel Carlsen; Romy Mesman; Valentina Zampiga; Rehan Villani; Vijay Joseph; Shyam Sharan; Kyriaki Michailidou; Amanda Spurdle; Fergus Couch; Maaike Vreeswijk; Alvaro N. Monteiro
• Collaborators: ENIGMA
• Conference: AACR 2024
• Date: Wednesday, Apr 10, 2024 9:00am-12:30pm

Session #20

Optimization of the ACMG-AMP Criteria for CDH1 Variant Classification.

• Authors: Rachid Karam; Intan Schrader; Kristy Lee; Carla Oliveira; Maegan Roberts; Keith Nykamp; Tina Pesaran; Rajarshi Ghosh; Joana Figueiredo; Yuya Kobayashi; Pardeep Kaurah; Kate Krempely; Thomas Slavin; Liying Zhang; Elizabeth Chao; Amanda Spurdle; Sean Tavtigian; Fatima Carneiro; David Huntsman; Sharon E. Plon
• Collaborators: Baylor College of Medicine; ClinGen; ENIGMA; Memorial Sloan Kettering Cancer Center; University of California, Irvine
• Conference: CCG 2017
• Date: Thursday, Jun 29, 2017 12:00pm-12:00pm

Session #38

Developing optimized ACMG-AMP criteria for classification of variants in TP53

• Authors: Tina Pesaran; Maria Isabel Achatz; Laura Attardi; Rebecca Bassett; Jeffrey Bissonnette; Gareth Evans; Bing-Jian Feng; Cristiana Fortuno; Megan Frone; David E. Goldgar; Robert Huether; Paul James; Sharisse Jimenez; Chimene Kesserwan; Kristy Lee; Shuwei Li; Phuong Mai; Kelly McGoldrick; Jessica Mester; Magali Olivier; Sharon Plon; Thomas P. Slavin; Amanda Spurdle; Liying Zhang; Sharon Savage
• Collaborators: ClinGen; ENIGMA
• Conference: CCG 2017
• Date: Thursday, Jun 29, 2017 12:00pm-12:00pm