Nicholas A. Borja

Abstract 7561: Understanding beliefs about hereditary susceptibility for cancer: An analysis of HINTS 2020.

Ashley Hatch, Heidy N. Medina, Nicholas A. Borja, Matthew Schlumbrecht et autres

Abstract Purpose: Cancer is driven by a complex interplay of genes and environment. However, little is known about the public’s beliefs about hereditary susceptibility to cancer. This study characterized beliefs about hereditary susceptibility to cancer in a nationally representative survey of US …

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Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Nicholas A. Borja, Anuja Milind Sule, Katie Ann McMullen, Aditi Dhir et autres

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Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes

Daniel Schwartzbaum, Christine Dinh, Nicholas A. Borja, Aditi Dhir et autres

Neurofibromatosis type 1 (NF1) and Neurofibromatosis Type 2-Related Schwannomatosis (NF2-SWN) are the two most common genetic disorders that present with Central nervous system(CNS) tumors. Patients with NF1 and NF2-SWN typically present in childhood and are initially managed by pediatric subspecialties. As CNS …

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Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

Laura Keehan, Hitomi Ono Minagi, Mohamad Hadhud, Jonathan Rips et autres

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Impact of Hereditary Cancer Susceptibility in Solid-Organ Transplant Recipients

Nicholas Khuu, M. Jeanjean, Talia Donenberg, Rachel Silva Smith et autres

Workbench Controlled Tier data set v7 in January-March 2025, we identified additional participants meeting the same inclusion criteria.Clinical data were extracted using Python scripts within a Jupyter Notebook.An exception to the Data and Statistics Dissemination Policy was obtained from the All of …

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P266: Diagnostic insights into adults with pediatric onset disorders: Findings from the Undiagnosed Diseases Network

Stephanie Bivona, Carson C Smith, Güney Bademci, LeShon Peart et autres

Undiagnosed adults presenting to genetics clinics often require exome and genome sequencing (ES/GS) to help identify the underlying cause of their condition. However, many insurance companies deny these tests based on the patient’s age, despite the presence of symptoms that began in …

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P275: Complementary long-read sequencing to identify variants in neurological phenotypes

Carson C Smith, Güney Bademci, Shengru Guo, LeShon Peart et autres

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P410: Ectopic expression of MEIOSIN and RAF1 downregulation is associated with neurodevelopmental delay in a child with balanced translocation t(3;19)(p26;q13.4)

Kayra Somay, Carson C Smith, Mohammad Faraz Zafeer, Alejo Morales et autres

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P387: Comprehensive genetic evaluation in a male with congenital thrombocytopenia, hearing loss, and developmental delay: Expanding the RAP1B phenotype

Jasmine Gaston, Nicholas A. Borja, Stephanie Bivona, Mustafa Said Tekin

were noted.Clinical trio short-read genome sequencing (GS) including both unaffected parents was performed, revealing two de novo pathogenic variants in PTPN11.One variant [c.1403C>T, p.(T468M)] is well-established for NSML, whereas the second variant [c.1374C>G, p.(H458Q)] is less understood in mechanism, pathogenicity, and phenotype.Phasing …

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PTHP-14. Two-hit inactivation of NSD1 in a patient with Sotos syndrome and pineoblastoma

Bradley Gampel, Katie Ann McMullen, Heather J. McCrea, Aditi Dhir et autres

Abstract BACKGROUND Sotos syndrome, a congenital overgrowth disorder caused by monoallelic loss-of-function variants in NSD1, is associated with a 3-5% lifetime risk of pediatric malignancies. While NSD1 alterations are implicated in various cancers, their role in carcinogenesis for Sotos syndrome patients is …

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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N. Kobren et autres

BACKGROUND: Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant …

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SAT-018 Novel MEN1 Gene Mutation Related to a MEN1 Aberrant Phenotype.

Ayoola Olayiwola, Nicholas A. Borja, Carles Villabona

Abstract Disclosure: A. Olayiwola: None. N. Borja: None. C.V. Villabona: None. Introduction: We describe a case of a young man with MEN 1 aberrant phenotype with a heterozygous c.1694T>G variant. Case description: This is a 36-year-old male who presented to our clinic …

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