Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1
| العنوان: | Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1 |
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| المؤلفون: | Bernadette P M van Nesselrooij, Olaf M. Dekkers, Gerlof D. Valk, Medard F M van den Broek, Wouter W. de Herder, Annemarie A. Verrijn Stuart, Peter H. Bisschop, Bas Havekes, Carolina R. C. Pieterman, Michiel N. Kerstens, Annenienke C van de Ven, Madeleine L. Drent |
| المساهمون: | Internal Medicine, Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Endocrinology, AGEM - Endocrinology, metabolism and nutrition, AMS - Ageing & Morbidty, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Movement Sciences, AMS - Ageing & Vitality, Internal medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep |
| المصدر: | van den Broek, M F M, van Nesselrooij, B P M, Pieterman, C R C, Verrijn Stuart, A A, van de Ven, A C, de Herder, W W, Dekkers, O M, Drent, M L, Havekes, B, Kerstens, M N, Bisschop, P H & Valk, G D 2020, ' Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1 ', The Journal of clinical endocrinology and metabolism, vol. 105, no. 7, dgaa257 . https://doi.org/10.1210/clinem/dgaa257Test Journal of Clinical Endocrinology and Metabolism, 105, 7 Journal of Clinical Endocrinology and Metabolism, 105(7). Endocrine Society Journal of Clinical Endocrinology and Metabolism, 105(7), E2491-E2500. ENDOCRINE SOC Journal of Clinical Endocrinology & Metabolism, 105(7), E2491-E2500. Oxford University Press Journal of Clinical Endocrinology and Metabolism, 105 Journal of Clinical Endocrinology and Metabolism, 105(7):dgaa257, E2491-E2500. ENDOCRINE SOC Journal of clinical endocrinology and metabolism, 105(7):dgaa257. The Endocrine Society The Journal of clinical endocrinology and metabolism, 105(7):dgaa257. The Endocrine Society |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, guide, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Disease, Neuroendocrine tumors, Bioinformatics, Biochemistry, 0302 clinical medicine, Endocrinology, Multiple endocrine neoplasia, Genetic anticipation, Netherlands, Aged, 80 and over, men1, Surveillance, Age Factors, Middle Aged, families, Penetrance, CANCER, 030220 oncology & carcinogenesis, ascertainment bias, Multiple endocrine neoplasia type 1, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Age of onset, Context (language use), Young Adult, 03 medical and health sciences, AGE, Proto-Oncogene Proteins, Internal medicine, medicine, Humans, MEN1, Aged, Anticipation, Genetic, business.industry, Biochemistry (medical), Pituitary tumors, medicine.disease, 030104 developmental biology, Mutation, TELOMERE LENGTH, business |
| الوصف: | Context Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease caused by the loss of function of the MEN1 gene, a tumor-suppressor gene that encodes the protein menin. It is characterized by the occurrence of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumors (dpNET), pituitary tumors (PIT), adrenal adenomas, and bronchopulmonary (bp-NET), thymic, and gastric neuroendocrine tumors. More insight into factors influencing the age-related penetrance of MEN1 manifestations could provide clues for more personalized screening programs. Objective To investigate whether genetic anticipation plays a role in the largest known MEN1 families in the Netherlands. Methods All Dutch MEN1 families with ≥ 10 affected members in ≥ 2 successive generations were identified. Age at detection of the different MEN1-related manifestations were compared among generations using regression analyses adjusted for competing risks. To correct for the beneficial effect of being under surveillance, manifestations occurring during surveillance were also separately compared. Results A total of 152 MEN1 patients from 10 families were included. A significantly decreased age at detection of pHPT, dpNET, PIT, and bp-NET was found in successive generations (P Conclusions These results suggest the presence of genetic anticipation. However, due to a risk of residual bias, the results must be interpreted with caution. After independent validation in other cohorts and further translational research investigating the molecular mechanisms explaining this phenomenon in MEN1, the results might add to future, more personalized, screening protocols and earlier screening for future generations of MEN1 patients. |
| وصف الملف: | application/pdf |
| تدمد: | 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ac70101856ed2321ef91474b5d06b3Test https://doi.org/10.1210/clinem/dgaa257Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c2ac70101856ed2321ef91474b5d06b3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 0021972X |
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