Partially functional (hypomorphic) missense variants in BRCA2 are reduced penetrance pathogenic variants
Title: Partially functional (hypomorphic) missense variants in BRCA2 are reduced penetrance pathogenic variants
Authors: Huaizhi Huang; Chunling Hu; Jie Na; Matthew Kucera; Timothy Simmons; Erin Mundt; Colin C. Young; Zahra Heidari; Paulo Cilas Morais Lyra; Yen Y. Tan; Katherine L. Nathanson; Tuya Pal; Rachid Karam; Tina Pesaran; Siddhartha Yadav; Susan M. Domchek; Alvaro N.A. Monteiro; Elisha Hughes; Nicholas Boddicker; Wenan Chen; Marcy E. Richardson; Fergus J. Couch
Collaborators: H. Lee Moffitt Cancer Center and Research Institute; Institute of Medical Genetics, Medical University of Vienna; Mayo Clinic; Myriad Genetics; Perelman School of Medicine at the University of Pennsylvania; Vanderbilt-Ingram Cancer Center