Search Results - "Mauer, Caitlin B."
-
1
Family still matters: Counseling patients with complex family histories of colon and endometrial cancers
Published in Molecular genetics & genomic medicine (01-09-2019)“…Background There are no national guidelines for the management of patients with a family history consistent with Lynch syndrome (LS) but a negative genetic…”
Get full text
Journal Article -
2
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma
Published in Familial cancer (01-07-2020)“…A 14-year-old male presented with abdominal pain. Imaging illustrated a left-sided adrenal mass; he underwent a left nephrectomy, confirming an extra-adrenal…”
Get full text
Journal Article -
3
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family
Published in Pediatric neurology (01-09-2020)Get full text
Journal Article -
4
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience
Published in Genetics in medicine (01-05-2014)“…Purpose: The advent of next-generation sequencing for cancer susceptibility genes holds promise for clinical genetics application, but the practical issues…”
Get full text
Journal Article -
5
Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States
Published in Journal of genetic counseling (01-12-2021)“…Risk assessment in cancer genetic counseling is essential in identifying individuals at high risk for developing breast cancer to recommend appropriate…”
Get full text
Journal Article -
6
Hereditary and clinical insights into paraganglioma and pheochromocytoma
Published in Endocrine oncology (01-11-2024)“…Background Approximately 30–40% of paragangliomas (PGLs) and pheochromocytomas (PCCs) harbor an underlying hereditary cause. Early identification of at-risk…”
Get full text
Journal Article -
7