Session PP037, Group 1 Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories Abstract Poster Tuya Pal, MD; Marcy Richardson, PhD; Tina Pesaran, MS, CGC; Elizabeth Chao, MD, FACMG
Session PP063, Group 1 Small-Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4 Poster Abstract Jamie D. Weyandt, PhD, Colin Young, PhD, Linda Polfus, PhD, John Ranola, PhD, Cassidy Carraway, Carolyn Horton, MS, CGC, Marcy E. Richardson, PhD
Session PP048, Group 1 Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location Poster Abstract Colin C. Young, PhD; Ashley Lahr, MS,CGC; Caroline Nestor, BS; Damara Ortiz, MD, FAAP, FACMG; Linford Williams, MS, CGC; Ashley Kaminski, MS, CGC; Marcy E. Richardson, PhD; Georgianne Arnold, MD, FACMG
Session PP042 Substantially different penetrance of different pathogenic variants in BRCA1 exon 20 (18): Not all pathogenic variants are equal Poster Abstract Emma Woodward, PhD; Marcy Richardson, PhD; Carrie Horton, MS-CGC; Matt Varga; Cassidy Carraway
Session PP062 Beyond the colon: Do biallelic variants in NTHL1 predispose to breast cancer? Abstract Jennifer Herrera-Mullar, MGC, CGC, DMA; Cassidy Carraway; Ady Batcheva; Tim Komala; Carrie Horton, MS, CGC; Sami Belhadj
Session PP040 BRCA1 frameshift variants leading to extended incorrect protein termini Abstract Poster Thales Nepomuceno, PhD (Moffit); Marcy Richardson, PhD
Session TBD BRCA1 frameshift variants leading to extended incorrect protein termini Abstract T. Nepomuceno; Marcy Richardson, PhD
Session Proffered Paper 1 (S1-PP1) Functional and clinical characterization of BRCA2 hypomorphic missense variants Abstract Fergus J. Couch, PhD
Session Proffered Paper 2 (S4-PP2) Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2 Abstract Fergus J. Couch, PhD