Objective: Women carrying a BRCA1/2 pathogenic variant have an increased risk for breast cancer and may opt for risk-reducing bilateral mastectomy. In this study, we examine which demographic, psychosocial, and personality factors are associated with their decision to undergo risk-reducing bilateral mastectomy.
Methods: Cancer-unaffected women with a pathogenic variant in BRCA1 or BRCA2 were recruited before receiving their genetic test result and completed follow-up including decision to undergo mastectomy over 6-8 months after genetic test result disclosure. Anxiety, depression, breast cancer worry, personality and sociodemographic data were assessed.
Results: A total of 125 cancer-unaffected women were included in the analysis. Participants were found to have higher anxiety levels than the general female population regardless of mastectomy decision. Breast cancer worry was higher among women who opted for risk-reducing mastectomy and did not decrease over time. By contrast, women who did not opt for surgery experienced decreasing levels of breast cancer worry. Regression analysis found that women with a pathogenic variant in BRCA1, younger women and women with higher breast cancer worry were more likely to opt for surgery.
Conclusions: Our study provides valuable insights into the factors that influence women with a BRCA1/2 pathogenic variant to undergo risk-reducing mastectomy. These findings may be helpful in understanding individual differences in decision-making concerning preventive options and show the need to address negative anticipatory feelings associated with carrying a pathogenic variant in a high breast cancer risk gene in clinical care.
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http://dx.doi.org/10.1002/pon.6111 | DOI Listing |
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 PDFNeurol Genet
February 2025
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada.
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.
View Article and Find Full Text PDFAm 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 PDFNephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
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