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Cancer and exercise
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Tormod S. Nilsen, Pernille Hojman, Henning Wackerhage
Inherited mutations are termed germline mutations. One example of inherited germline mutations are mutations of the Breast cancer type 1 and type 2 susceptibility genes (BRCA1/2) or tumour protein p53 (TP53) gene, commonly known as simply p53 (Li Fraumeni syndrome) (14). Germline mutations will be present in all cells of the body.
Preimplantation Genetic Testing in the Future
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
Gene editing (GE) is a sentinel advance in science, genetics, and reproduction. The preimplantation embryo is well-suited for application. There is also clear rationale for GE in certain circumstances. In some cycles there are no transferable embryos, but affected embryos may exist. Affected embryos are at present discarded. If GE were available and efficacious, a “corrected embryo” could instead be transferred to achieve a pregnancy. A debate at the 2018 International Society for Prenatal Diagnosis (ISPD) meeting explored this topic [13]. Salutary reasons for GE were enumerated by Wells; Vermeesch provided contrary arguments that included low efficacy and potential off target effects. A concern distinct from safety and efficacy was that germline correction is almost unavoidable.
Introductory Remarks
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Germline (gonadal) mosaicism initiates from a mutation that occurs after conception in an early stem cell that gives rise to all or part of germ cells. Therefore, some germ cells (egg or sperm) may carry a mutation, but others are normal.
The current status of gene therapy in bladder cancer
Published in Expert Review of Anticancer Therapy, 2023
Côme Tholomier, Alberto Martini, Sharada Mokkapati, Colin P. Dinney
Adeno- and adeno-associated-viral (AAVs) vectors are promising vectors for gene therapy as they provide relatively long-term transgene expression with minimal risks of unwanted integration into the host’s genome, reducing the risk of insertional mutagenesis [18,19]. Although adenoviruses are usually considered immunogenic, multiple reports with long-term follow-up have confirmed an adequate safety profile [20,21]. Concerns that patients might have natural antibodies to adenovirus from previous flu exposures that would blunt efficacy have not been borne out by clinical experience. Finally, there is concern for the possibility that gene therapy could induce germ-line alterations which could lead to the unwanted transfer genes to the offspring. Current trials are designed to minimize this risk [22].
Targeting the DNA damage response in pediatric malignancies
Published in Expert Review of Anticancer Therapy, 2022
Jenna M Gedminas, Theodore W Laetsch
Alterations in or deficiency of genes involved in the DNA damage response pathways is a known cause of oncogenesis in both adult and pediatric malignancies [16]. The resulting defective response to DNA damage allows cells to progress unchecked through the cell cycle causing the accumulation of mutations leading to oncogenic evolution [17]. There are several germline gene defects which lead to syndromes characterized by defective DNA repair and an increased risk of malignancy. Xeroderma pigmentosum is caused by defects in one of the genes involved in nucleotide excision repair and results in an exquisite sensitivity to UV light and a > 1000-fold increase risk of melanoma [18]. Similarly, heterozygous germline mutations in the MLH1 and MSH2 genes result in the mismatch repair defect, Lynch syndrome with an increased risk of colorectal cancer [18]. Homozygosity for these same mutations results in constitutional mismatch repair deficiency (CMMRD) syndrome, which results in an exceptionally high risk for a number of pediatric malignancies including brain tumors, leukemia, and gastrointestinal and female reproductive tract tumors along with various rare pediatric tumors [19].
Governance of Emerging Biotechnologies: Lessons from Two Chinese Cases
Published in The American Journal of Bioethics, 2022
Hui Zhang, Cuilian Zhang, Jing Wang, Yongguang Yang, Yubao Wei, Zhenxiang Zhang, Yuming Wang
The overwhelming conclusion is that He’s experiment was unethical and premature and violated both international norms and Chinese law. According to the statement released in the 2015 Washington summit, it would be “irresponsible to proceed with any clinical use of germline editing unless and until (i) the relevant safety and efficacy issues have been resolved, based on appropriate understanding and balancing of risks, potential benefits, and alternatives, and (ii) there is a broad societal consensus about the appropriateness of the proposed application.” At present, these conditions have not yet been met (Krimsky 2019; Olson et al. 2016). China’s Regulations on Human Assisted Reproduction explicitly prohibits the genetic manipulation of human gametes, zygotes, and embryos for reproductive purposes. In addition, as it would potentially put the twins at unknown risks, He’s behavior went against Confucius’s principle of “ren” (benevolence, humaneness, and love) in traditional Chinese culture (Lei et al. 2019; Zhang et al. 2021).