9th International Symposium on Hereditary Breast and Ovarian Cancer
Poster # P062
Tuesday, May 2, 2023 2:45 - 4:15pm
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 # P040
Tuesday, May 2, 2023 11:17 - 11:20am
Thales Nepomuceno, PhD (Moffit); Marcy Richardson, PhD. BRCA1 Frameshift Variants Leading to Extended Incorrect Protein Termini.
Poster # P048, Group 1
Tuesday, May 2, 2023 2:45 - 4:15pm
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
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
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
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
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
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
Fergus J. Couch, PhD. Multiplexed Assays of Variant Effect for All Possible Missense Alterations Located in the DNA Binding Domain of BRCA2