Mutation

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Related to Germline mutation: somatic mutation

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

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Hereditary leiomyomatosis and RCC syndrome-associated renal cancer is related to germline mutation of the fumarate hydratase (FH) gene.
Succinate Dehydrogenase-Deficient Renal Cell Carcinoma
(21) 100 patients with endometrial cancer diagnosed <50 years of age MMR germline mutation Anagnostopoulos 35 patients with endometrial cancer et al.
Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age
Even in patients with apparently sporadic PCCs, up to 25% will have unsuspected germline mutations. Younger age and multifocal tumors, as in our patients, are significantly associated with the presence of a mutation.
Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
Mutations that occur in the formation of gametes are called germline mutations because they are inherited and can be predicted.
Genetic Testing in Oncology for the Medical-Surgical Nurse
Formal documentation of a germline mutation, however, requires genetic testing of blood DNA.
Be alert for BAP1 mutations in hereditary melanomas
SMARCB1 mutations can arise de novo or be secondary to a germline mutation, which should prompt genetic counseling [9].
Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor
Genetic testing is of paramount importance in pediatric patients with an apparently sporadic PHEO, because (1) the rate of mutations found in this clinical setting is close to 80.0%; (2) 10 PHEO-associated genes have been reported in pediatric patients, each gene conferring distinct profiles of propensity for the development of chromaffin and nonchromaffin cell tumors and for biological behaviors; and (3) it allows for tailoring specific diagnostic, treatment, and surveillance programs to these patients, taking into account the germline mutation founded and its genotype-phenotype correlation [5, 22, 23, 30-33, 50, 118].
A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
[17] NCI, NCI Dictionary of Cancer Terms, germline mutation, Secondary NCI Dictionary of Cancer Terms, "germline mutation", https://www.cancer.gov/publications/dictionaries/ cancer-terms?cdrid=46384, 2017.
Postmastectomy Radiation Therapy: Are We Ready to Individualize Radiation?
For kindred families fulfilling the Amsterdam criteria, the chance of identifying a germline mutation is 40% to 50% [11].
Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries
It is already known that around 1% of PCC patients were negative for mutations in the other known susceptibility genes carried a germline mutation affecting MAX [26, 27].
Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma
Von Hippel-Lindau disease is a hereditary cancer syndrome caused by a germline mutation in or deletion of the VHL gene, and patients are at risk for developing tumors and fluid-filled sacs (cysts) in a number of organs.
Peloton Therapeutics Starts Patient Dosing in Phase 2 Study of PT2385 for von Hippel-Lindau Disease-Associated Kidney Cancer
MSI thereby serves as a reliable phenotypic marker of MMR deficiency in order to preselect patients eligible for germline mutation analysis in the MMR genes [19].
Novel Implications in Molecular Diagnosis of Lynch Syndrome

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