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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.
Familial Adenomatous Polyposis
Published in Savio George Barreto, Shailesh V. Shrikhande, Dilemmas in Abdominal Surgery, 2020
Paul Kolarsick, Steven D. Wexner
When a polyposis phenotype is discovered, a multi-gene panel is often used for initial DNA analysis [2]. This is particularly useful for AFAP as there are multiple other mutations capable of producing a similar phenotype, as mentioned above. Direct genetic sequencing is considered the gold standard method of germline testing of the APC gene and is recommended for the proband. Once a mutation is identified, family screening for that specific mutation can proceed [1]. Results of germline genetic testing carry implications for prognosis and clinical management. It is recommended that patients meet with a genetic counselor prior to undergoing testing.
Introductory Remarks
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Based on whether germ cells (egg/sperm) or non-germ cells are affected, genetic mutation is distinguished into germline, de novo, somatic, and sporadic mutations, along with germline (gonadal), and somatic (classic) mosaicisms.
A review of the cost-effectiveness of genetic testing for germline variants in familial cancer
Published in Journal of Medical Economics, 2023
Srinivas Teppala, Brent Hodgkinson, Sandi Hayes, Paul Scuffham, Haitham Tuffaha
The limitations of this review are noteworthy. First, we assessed the cost-utility of germline testing and did not include evaluations on genomic or somatic testing. Both testing modalities fall under the purview of genetic testing, yet there are clear distinctions between them. While somatic testing looks for genetic changes that develop over the individual’s lifetime, germline testing is focused on heritable mutations and our findings are limited to the latter. Second, the heterogeneity of included studies regarding the target group for testing and the small number of articles within each of these strata prevented us from performing a metanalysis. Also, our findings are not comprehensive as we did not include studies published in non-English languages. Third, information on prognostic markers such as HER2 or triple negative status (additionally provides information about estrogen or progesterone receptors on cancer cells) was not provided in most HBOC studies. Patients with BRCA mutations have a higher likelihood of being triple negative84, which may further reduce their long-term survival. Information on triple negative status could, therefore, explain some of the variation in cost-effectiveness across studies.
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
Published in Expert Review of Molecular Diagnostics, 2022
Débora Leite Rocha, Patricia Ashton-Prolla, Clévia Rosset
Since there are usually no mutation hotspots in cancer predisposition genes, it is always necessary to evaluate the entire coding region and intron/exon boundaries of candidate genes in a proband with suspected hereditary cancer. For hereditary breast and ovarian cancer syndrome, the National Comprehensive Cancer Network (NCCN) Guidelines (2020) highlights the importance of a comprehensive genetic testing, with complete BRCA1/2 sequencing and detection of large gene rearrangements. Our review suggests that this strategy should be extended to the other CPGs [195]. Multigene panel testing in the context of cancer predisposition has become a cost-effective and is already standard of care in many countries, mainly in North America, Europe, and Asia. In low and middle-income countries, like Brazil, access to genetic testing is limited by several factors, including scarce human resources (i.e. genetic counselors or properly trained health-care professionals) and lack of genetic testing facilities and/or reimbursement in public health-care systems. Whenever ordering a germline genetic test, the health-care provider must know sensitivity and limitations of the specific test that is being used, as well as try to request and understand which kind of laboratory validation of the assay was done. In the context of the current knowledge, and of the discussion presented here, the laboratory should be able to confirm its test capacity to detect LGRs and show its validation assays to confirm the test sensitivity for detecting these large gene alterations.
Management of breast cancer patients with BRCA gene mutations in Lebanon of the Middle East: perspectives and challenges
Published in Hospital Practice, 2021
Nagi S. El Saghir, Hady Ghanem, Fadi El Karak, Fadi Farhat, Marwan Ghosn, Joseph Makdessi, Khouloud Chouaib, Jamil Debs, Adel B. Tabchy
Moreover, it is important to promote continuing education for oncologists and surgeons on specific criteria that should trigger discussion and counseling regarding BRCA panel testing. Genetic counselors and high-risk clinics should be made available. Cultural barriers against germline testing include fears of stigma associated with families with genetic mutations. Those are clinical observations in Lebanon and other Arab countries. While these barriers cannot be easily broken, physicians are encouraged to emphasize genetic counseling and confidentiality. Another important patient-related factor is financial factor. Most insurance companies do not cover the costs of germline mutation testing, and patients have to make out-of-pocket payments. Grants and donations for patient-support programs are considered a way to alleviate cost-related hurdles. Advocacy groups run by physicians and non-governmental organizations are active in Lebanon, and many countries are active in demanding laws to protect patients and stop private insurance companies from discriminating against hereditary BC patients [21]. Authors recommend that public and private insurers cover germline mutation testing according to the NCCN guidelines.