9th International Symposium on Hereditary Breast and Ovarian Cancer
Poster # P040
Tuesday, May 2, 2023 11:17 - 11:20am Abstract Poster
Thales Nepomuceno, PhD (Moffit); Marcy Richardson, PhD. BRCA1 frameshift variants leading to extended incorrect protein termini.
Poster # P062
Tuesday, May 2, 2023 2:45 - 4:15pm Abstract
Jennifer Herrera-Mullar, MGC, CGC, DMA; Cassidy Carraway; Ady Batcheva; Tim Komala; Carrie Horton, MS, CGC; Sami Belhadj. Beyond the colon: Do biallelic variants in NTHL1 predispose to breast cancer?.
Poster # P048, Group 1
Tuesday, May 2, 2023 2:45 - 4:15pm Abstract Poster
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. Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location.
Poster # P037, Group 1
Tuesday, May 2, 2023 2:45 - 4:15pm Abstract Poster
Tuya Pal, MD; Marcy Richardson, PhD; Tina Pesaran, MS, CGC; Elizabeth Chao, MD, FACMG. Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories.
Poster # P063, Group 1
Tuesday, May 2, 2023 2:45 - 4:15pm Abstract Poster
Jamie D. Weyandt, PhD, Colin Young, PhD, Linda Polfus, PhD, John Ranola, PhD, Cassidy Carraway, Carolyn Horton, MS, CGC, Marcy E. Richardson, PhD. Small-Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4.
Poster # P042
Tuesday, May 2, 2023 2:45 - 3:15pm Abstract Poster
Emma Woodward, PhD; Marcy Richardson, PhD; Carrie Horton, MS-CGC; Matt Varga; Cassidy Carraway. Substantially different penetrance of different pathogenic variants in BRCA1 exon 20 (18): Not all pathogenic variants are equal.
Session # TBD
Tuesday, May 2, 2023 11:17 - 11:20am Abstract
T. Nepomuceno; Marcy Richardson, PhD. BRCA1 frameshift variants leading to extended incorrect protein termini
Session # Proffered Paper 1 (S1-PP1)
Tuesday, May 2, 2023 10:55 - 11:05am Abstract
Fergus J. Couch, PhD. Functional and clinical characterization of BRCA2 hypomorphic missense variants
Session # Proffered Paper 2 (S4-PP2)
Wednesday, May 3, 2023 10:05 - 10:15am Abstract
Fergus J. Couch, PhD. Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2