Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer that disproportionately affects younger females, non-Hispanic Black women, Hispanic women, and women with the BRCA1 gene mutation. Hereditary genetic testing is particularly important in this population to assess preventative and treatment strategies, however access to genetic testing is variable. A qualitative review was performed to evaluate barriers to genetic testing for patients with TNBC. Mutations common in breast cancer are reviewed along with updated guidelines on management strategies, including the ability to include PARP inhibitors as a treatment strategy. Barriers to genetic testing are multifactorial, with non-Hispanic Black women being tested less often than other groups. The disparity is even further represented by the limited number of non-Hispanic Black patients with TNBC who receive risk-reducing surgery or targeted systemic therapy. Eliminating barriers to genetic testing can allow us to support guideline-directed care for patients with TNBC at higher risk for genetic mutations.
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http://dx.doi.org/10.1016/j.clbc.2024.09.018 | DOI Listing |
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Medical Genetics Laboratory, Shiraz Fertility Center, Shiraz, Iran.
Purpose: Preimplantation aneuploidy in humans is one of the primary causes of implantation failure and embryo miscarriage. This study was conducted to gain insight into gene expression changes that may result from aneuploidy in blastocysts through RNA-Seq analysis.
Methods: The surplus embryos of preimplantation genetic testing for aneuploidy (PGT-A) candidate couples with normal karyotype and maternal age < 38 were collected following identical ovarian stimulation protocol.
Pediatr Res
January 2025
Center for Genetic Medicine, Children's National Research Institute, Washington, DC, USA.
Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.
View Article and Find Full Text PDFCerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Neurology, Barwon Health, Geelong, Victoria, Australia.
A male in his 20s presented with episodic headache and subsequently developed episodic unilateral weakness, dysphasia and encephalopathy. These paroxysmal episodes persisted over time with the development of background cognitive impairment and neuropsychiatric symptoms. MRI surveillance demonstrated progressive T2 hyperintensity with focal cortical oedema correlating to symptoms observed during clinical episodes.
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