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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.
Ocular Tumors
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Vishal Raval, Alexander Melendez, Hansell Soto, Alléxya Affonso, Rubens Belfort Neto, Arun D. Singh
A number of studies18,19 have examined paternal age with a wide range of results, with the most methodologically sound studies observing paternal age difference of only about 1 year between those with retinoblastoma and the general population. Therefore, the results are yet not convincing until much more research has been done. Exposure to germ line mutagens increases the frequency of germ line mutations in animals.17 In individuals exposed to radiation or chemotherapeutic drugs and families of cancer survivors and atomic bomb survivors there have been reports of a new germ line mutation which could put them at a higher risk of developing cancer as compared to the general population.20–22 However there is no strong evidence in relation to etiology or higher incidence of retinoblastoma among such populations.
Atypical Teratoid / Rhabdoid Tumors – AT/RT
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Michael C. Frühwald, Jaclyn A. Biegel, Susan N. Chi
Despite the presence of germline mutations, prolonged survival has been documented in some of these patients.56,57 Germline deletions of SMARCB1 are always de novo and inherited mutations in SMARCB1 and pedigrees with transmission across generations are rare. Gonadal mosaicism has also been reported in families with multiple affected siblings and unaffected parents who have a negative screening test using peripheral blood.54 In contrast, germline mutations of SMARCA4 are inherited from a parent in more than 50% of cases.41,42
Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort
Published in Acta Oto-Laryngologica, 2023
Simon I. Angeli, Juan A. Chiossone K, Stefania Goncalves, Fred F. Telischi
Paragangliomas can run in families in approximately 10% of cases, but recent studies have shown that up to 40% of cases presenting without a family history (i.e. sporadic cases) carry a germline mutation. [3–6] These studies have shown that there are significant phenotypic differences between sporadic cases with and without germline mutation. In comparison to patients with head and neck paragangliomas (HNPGL) without mutations in the succinyl-dehydrogenase genes (SDH), patients who are carriers of germline mutations tend to present with multiple tumours and at an earlier age. [2–6] In consequence, screening for these mutations has become common as this can inform the management of index patients and family members. However, the largest series reporting on genotype-phenotype associations in head and neck paragangliomas have originated from Europe and Northern USA [2–8] but recently, smaller series from Asia and the Middle East have shown important ethnic differences. [9,10] There have been no large-scale studies that include patients of Hispanic and African American ethnicity. The objective of this study is to determine the underlying genetic mutations and genotype/phenotype correlations in a multi-ethnic population of South Florida with sporadic temporal bone paragangliomas that include patients of Hispanic and African American ethnicity.
Histopathology of the Conduction System in Long QT Syndrome
Published in Fetal and Pediatric Pathology, 2022
Alexandra Rogers, Rachel Taylor, Janet Poulik, Bahig M. Shehata
At least 16 genotypically different subtypes of Long QT Syndrome (LQTS) have been identified to date (ex: LQT1, LQT2, LQT3). About 75% of these cases are caused by mutations in one of three major genes, 5% are attributable to mutations in one of 10 minor genes, 5–10% are caused by de novo germline mutations, and the remaining 10–15% of diagnoses are due to unidentified causes [2]. Most cases of LQTS are inherited in an autosomal dominant pattern, underlying the importance of a thorough family history in the evaluation of presenting patients. Most of the mutations are single nucleotide substitutions or insertions/deletions [2]. While a majority of patients harbor only a single mutation in one of the three major genes, a small percentage, roughly 5% to 10%, show multiple mutations. These patients tend to demonstrate a more severe disease phenotype with an earlier age of onset [2].
Exploring the real-world effect of the SARS-CoV-2 pandemic on the molecular diagnostics for cancer patients and high-risk individuals
Published in Expert Review of Molecular Diagnostics, 2021
Milena Cavic, Ana Krivokuca, Ivana Boljevic, Jelena Spasic, Milica Mihajlovic, Marijana Pavlovic, Ana Damjanovic, Davorin Radosavljevic, Radmila Jankovic
IORS is the largest center for oncological in vitro companion diagnostics in Serbia and has been certified by The European Molecular Genetics Quality Network (EMQN). Since 2008, we have performed tumor-specific molecular analysis of hot spot mutation regions of relevant genes for selection of targeted therapies in various cancer subtypes (EGFR for tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer, KRAS/NRAS for EGFR inhibitors in metastatic colorectal cancer, BRAF for TKIs in metastatic melanoma) [4–7]. Since 2016 we have also routinely performed BRCA1/2 germline and somatic testing for platinum-sensitive high-grade serous ovarian cancer patients (HGSOC) [8]. Germline and somatic BRCA1/2 mutations are associated with higher sensitivity both to platinum chemotherapy and PARP inhibitors allowing us to use them as important biomarkers for therapy selection in recurrent ovarian cancer [9]. In case a germline mutation is detected, genetic counseling is recommended. IORS is currently the only institution in Serbia that performs BRCA1/2 genetic testing for therapy selection in ovarian cancer. During regular times, tissue samples for pharmacogenomic testing and blood samples for germline and liquid biopsy testing are provided to us by the patients, health clinics and by post when necessary. However, during the SoE, patient samples were mostly forwarded for testing by post, as inter-city travel was unavailable.