Breast cancer (BC) is a common and often life-altering diagnosis for affected women and their families. Studies have indicated approximately 10% of breast cancer cases are inheritable. When patients are aware of their genetic status early, they are better equipped to make therapy decisions related to their cancer. Additionally, if patients are aware of pathogenic mutations, they can evaluate options such as chemoprevention with endocrine agents, prophylactic surgery, and have the ability to inform family members of their potential risk. Unfortunately, the shortage of genetic counselors has led to a large clinical demand delaying consultation. Although our institution employs genetic counselors on staff, the national shortage of counselors with this expertise has led to a disproportionate availability of providers to meet the clinical volume. This can lead to genetic counseling consultation often occurring beyond the patient's cancer treatment phase. Therefore, we sought to evaluate our referral patterns in an effort to determine whether qualifying patients were scheduled, evaluate delays in consultation, examine completion rates for genetic testing, and assess whether genetic counseling affected their subsequent care.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jnma.2021.12.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFFetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in gene: A case report.
Radiol Case Rep
March 2025
Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan.
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.
View Article and Find Full Text PDFSMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFA study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFNovel and recurrent genetic variants associated with male and female infertility.
J Appl Genet
January 2025
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!