Publications by authors named "Erica Sanborn"
Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele.
View Article and Find Full Text PDFObjectives/hypothesis: To describe the management and outcomes of Fanconi anemia (FA) patients with head and neck squamous cell carcinoma.
Study Design: Cohort study.
Methods: Demographic information, prognostic factors, therapeutic management, and survival outcomes for FA patients enrolled in the International Fanconi Anemia Registry who developed head and neck squamous cell carcinoma (HNSCC) were analyzed.
Article Synopsis
- - A patient with a Fanconi anemia-like condition has a new mutation (T131P) in the RAD51 gene, which is crucial for DNA repair through homologous recombination.
- - The mutant RAD51-T131P exhibits unusual properties: it has ATPase activity without the ability to pair DNA and negatively affects the normal RAD51 function in the cell.
- - Despite the mutation, the patient's cells can still perform homologous recombination due to a higher amount of normal RAD51, but they show increased sensitivity to crosslinking agents, signaling the importance of RAD51 in DNA repair beyond the homologous recombination process.
Fanconi anemia (FA) is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating in the repair of DNA interstrand crosslinks (ICLs). Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups. Here, we describe an individual presenting with typical FA features who is deficient for the ubiquitin-conjugating enzyme (E2), UBE2T.
View Article and Find Full Text PDFArticle Synopsis
- Fanconi anemia (FA) is a rare inherited condition affecting about 1 in 100,000 to 200,000 live births, involving defects, bone marrow failure, and cancer risks.
- The link between FA and mutations in the BRCA2 gene became significant in 2002, highlighting its relevance in genetic counseling, especially concerning breast cancer.
- This review addresses essential topics for genetic counselors, such as FA overview, symptoms, management, genetics, testing options, and implications for family members.
Article Synopsis
- - Fanconi anemia (FA) is a rare genetic disorder caused by mutations in one of at least 16 genes, leading to diverse clinical symptoms and challenges in treatment.
- - A study of 202 FA families discovered large deletions in specific genes, with 35% of families affected and FANCA deletions being the most common, often linked to genetic mechanisms involving Alu elements.
- - Understanding the exact genetic changes associated with FA can enhance the understanding of the disease's symptoms and help in addressing the underlying mechanisms of these mutations.
Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty.
View Article and Find Full Text PDFCurrent methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligos to capture and sequence FA and related genes, including introns, from 27 samples from the International Fanconi Anemia Registry at The Rockefeller University.
View Article and Find Full Text PDFPostoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma.
Arch Otolaryngol Head Neck Surg
September 2011
Objective: To describe the complications and adverse effects of postoperative radiotherapy in patients with Fanconi anemia (FA).
Design: Cohort study.
Setting: Patients with FA treated at community and tertiary care hospitals throughout the United States.
Angelman syndrome (AS) is caused by reduced or absent expression of the maternally inherited ubiquitin protein ligase 3A gene (UBE3A), which maps to chromosome 15q11-q13. UBE3A is subject to genomic imprinting in neurons in most regions of the brain. Expression of UBE3A from the maternal chromosome is essential to prevent AS, because the paternally inherited gene is not expressed, probably mediated by antisense UBE3A RNA.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to improve the Hammersmith Functional Motor Scale by creating an expanded version to better evaluate ambulatory patients with spinal muscular atrophy (SMA) types II and III.
- - Researchers tested 38 SMA patients using both the new scale and the Gross Motor Function Measure, ultimately selecting 13 items to enhance the Hammersmith scale and confirming its reliability and correlation with existing assessment tools.
- - The expanded scale demonstrated strong reliability and a high correlation with established measures, indicating it’s suitable for assessing higher functioning SMA patients and can be used in future clinical trials for SMA.