Lara Sucheston-Campbell

MACROD2 and CDKN2A in multiple myeloma: Insights to germline susceptibility and cytogenetic risk from long-read Nanopore sequencing.

Panteha Behboodi, James Di Palma Grisi, Andy Madrid, Martha Salas et autres

e19566 Background: The MACROD2 gene is a chromosomal fragile site that undergoes frequent intragenic deletions in human carcinomas. Structural features of the deletions have argued against a tumor suppressor role, but functional studies have implicated the MACROD2 mono-ADP-ribosylhydrolase, acting via PARP1, in …

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Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.

Diyanath Ranasinghe, Wei‐Yu Lin, Sarah Elizabeth Fordham, Abrar Alharbi et autres

Acute myeloid leukemia (AML) is a complex hematologic malignancy with multiple disease subgroups defined by somatic mutations and heterogeneous outcomes. Although genome-wide association studies (GWAS) have identified a small number of common genetic variants influencing AML risk, the heritable component of this …

Abstract 6266: Functional Class I, Class II, and nonclassical HLA variation drives lymphoma and myeloma risk in the all of us research program.

Lara Sucheston-Campbell, Saanika Tambe, Lian Zuo, Alyssa Clay-Gilmour et autres

Abstract Background: HLA-mediated immune surveillance involves classical, non-classical, and class I-like pathways. Because lymphoma and myeloma rely on different immune mechanisms, we evaluated HLA class I/II, non-classical, and class I-like loci across ancestries using allele-level amino acids(AA), heterozygosity (HET), evolutionary divergence (HED), …

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Abstract 3229: The chromatin remodeler SMARCA5 displays ancestry-specific functions in African American prostate cancer

Shahid Hussain, Khalid Bashir Mir, Sajad A. Wani, Solomon O. Rotimi et autres

Abstract Previously, we identified that BAZ1A and SMARCA5 were significantly downregulated in in African American (AA) prostate cancer (PCa), and that BAZ1A altered vitamin D receptor (VDR)-dependent transcriptional sensitivity. SMARCA5 is the ATPase core of different chromatin remodeling complexes, including WICH that …

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TGFBR1 *6A and Risk for Colorectal Cancer

Allan M. Johansen, Julie T. Ziegler, Kojo Agyemang, Michael J. Pennison et autres

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Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene.

Ed Dicks, Honglin Song, Susan J. Ramus, Elke Van Oudenhove et autres

We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Genome Atlas Project and identified 5,517 genes harboring a predicted deleterious germline coding mutation in at least one HGSOC case. Gene-set …