In the past five years the advent of cancer genetic testing has created concern about the negative psychosocial sequelae of genetic counseling and testing. Research indicates that the women most likely to seek genetic testing are anxious about carrying a gene mutation and developing breast cancer. Women who are at high risk have poor knowledge and the expectation of being a gene-mutation carrier. High levels of distress have been shown to interfere with decision-making about genetic testing. Further, individuals who decline genetic testing may be at increased risk for depressive symptoms even more than those who are found to be gene-mutation carriers. There is great concern that inappropriate candidates will seek genetic testing. Improved education and access to genetic counseling are essential to help women make appropriate decisions about genetic testing. Strategies for the prevention of breast and ovarian cancer are explored, and methods to reduce the adverse psychosocial effects of decision-making about genetic testing and preventive treatment strategies are suggested.
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http://dx.doi.org/10.1002/(sici)1098-2388(200006)18:4<333::aid-ssu8>3.0.co;2-4 | DOI Listing |
BioDrugs
January 2025
Orsay-Vallée Campus, Paris-Saclay University, Gif-sur-Yvette, France.
Liver cancer poses a global health challenge with limited therapeutic options. Notably, the limited success of current therapies in patients with primary liver cancers (PLCs) may be attributed to the high heterogeneity of both hepatocellular carcinoma (HCCs) and intrahepatic cholangiocarcinoma (iCCAs). This heterogeneity evolves over time as tumor-initiating stem cells, or cancer stem cells (CSCs), undergo (epi)genetic alterations or encounter microenvironmental changes within the tumor microenvironment.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Human Genetic, Altamedica, Rome, Italy.
Cancer Chemother Pharmacol
January 2025
Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
Purpose: Patients with partial or complete DPD deficiency have decreased capacity to degrade fluorouracil and are at risk of developing toxicity, which can be even life-threatening.
Case: A 43-year-old man with moderately differentiated rectal adenocarcinoma on capecitabine presented to the emergency department with complaints of nausea, vomiting, diarrhea, weakness, and lower abdominal pain for several days. Laboratory findings include grade 4 neutropenia (ANC 10) and thrombocytopenia (platelets 36,000).
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Asia Pac J Clin Oncol
January 2025
LifeStrands Genomics Australia, Mount Waverley, Victoria, Australia.
Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC.
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