Results 11 to 20 of about 13,351 (224)

Germline mutations predisposing to melanoma [PDF]

Journal of Cutaneous Pathology, 2020
AbstractNearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1 ...
Atrin Toussi, Nicole Mans, Jeanna Welborn, Maija Kiuru   +3 more
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Germline Mutations for Kidney Volume in ADPKD [PDF]

Kidney International Reports, 2022
Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking. Although total kidney volume (TKV) and Mayo imaging classification are generally used to predict disease progression in patients with ADPKD, it remains unclear whether germline mutation types
Hiroshi Kataoka, Rie Yoshida, Naomi Iwasa, Masayo Sato, Shun Manabe, Keiko Kawachi, Shiho Makabe, Taro Akihisa, Yusuke Ushio, Atsuko Teraoka, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki   +12 more
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Three germline mutations in theTP53 gene [PDF]

Human Mutation, 1997
Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome.
R.S. Cornelis, M. van Vliet, M.J. van de Vijver, H.F.A. Vasen, P.A. Voûte, B. Top, P. Meera Khan, P. Devilee, C.J. Cornelisse   +8 more
openaire   +3 more sources

Prevalence of the CHEK2 R95* germline mutation [PDF]

Hereditary Cancer in Clinical Practice, 2016
While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer.
Stian Knappskog, Kristian Hveem, Pål Richard Romundstad, Lars J. Vatten, Beryl Leirvaag, Beryl Leirvaag, Liv Beathe Gansmo, Liv Beathe Gansmo, Per Eystein Lønning, Per Eystein Lønning   +9 more
openaire   +5 more sources

Evolution of the germline mutation rate across vertebrates [PDF]

Yearbook of Paediatric Endocrinology, 2023
AbstractThe germline mutation rate determines the pace of genome evolution and is an evolving parameter itself1. However, little is known about what determines its evolution, as most studies of mutation rates have focused on single species with different methodologies2.
Lucie A. Bergeron, Søren Besenbacher, Jiao Zheng, Panyi Li, Mads Frost Bertelsen, Benoit Quintard, Joseph I. Hoffman, Zhipeng Li, Judy St. Leger, Changwei Shao, Josefin Stiller, M. Thomas P. Gilbert, Mikkel H. Schierup, Guojie Zhang   +13 more
openaire   +7 more sources

Comprehensive and user-analytics-friendly cancer patient database for physicians and researchers [PDF]

Proceedings of the 2022 International Conference on Computational Science and Computational Intelligence (CSCI), 2023
Nuanced cancer patient care is needed, as the development and clinical course of cancer is multifactorial with influences from the general health status of the patient, germline and neoplastic mutations, co-morbidities, and environment. To effectively tailor an individualized treatment to each patient, such multifactorial data must be presented to ...
arxiv   +1 more source

Germline mutation of ARF in a melanoma kindred [PDF]

Human Molecular Genetics, 2002
Familial melanoma predisposition is associated with germline mutations at the CDKN2A/ARF locus in up to 40% of families. The exact role of the two proteins encoded by this complex locus in this predisposition is unclear. Most mutations affect either CDKN2A only or products of both genes.
Hewitt, Chelsee, Wu, Chu Lee, Evans, Gareth, Howell, A., Elles, Robert G., Jordan, Richard, Sloan, Philip, Read, Andrew P., Thakker, Nalin   +8 more
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Germline Elongator mutations in Sonic Hedgehog medulloblastoma [PDF]

Nature, 2020
Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children1,2, and genetic events that cooperate with known somatic driver events are poorly understood ...
Maria Feychting, Stefan Rutkowski, Martin Röösli, Marina Ryzhova, Joachim Schüz, Brandon J. Wainwright, Michael A. Grotzer, Kyle S. Smith, Brent A. Orr, Stefan M. Pfister, Stefan M. Pfister, Tone Eggen, Andrey Korshunov, Andrey Korshunov, Christoffer Johansen, Claudia E. Kuehni, Natalie Jäger, Laurence Brugières, Amy A Smith, Murali Chintagumpala, David T.W. Jones, Marc Remke, Daniel C. Bowers, Ivo Buchhalter, Ruth G. Tatevossian, Olivier Ayrault, Till Milde, Till Milde, Paul A. Northcott, Jules Kerssemakers, Jesus Garcia-Lopez, Birgitta Lannering, Bérangère Lombard, Sonia Partap, Sebastian M. Waszak, Kristina Kjærheim, Emilie Indersie, Marcel Kool, Stéphanie Puget, Anne Bendel, Giles W. Robinson, David W. Ellison, Damarys Loew, Aksana Vasilyeva, Jennifer Hadley, Brian Gudenas, Marija Kojic, Finn Wesenberg, Olaf Witt, Olaf Witt, Tanvi Sharma, Tobias Rausch, Kim E. Nichols, Nicholas G. Gottardo, John R. Crawford, Jan O. Korbel, Dominik Sturm, Peter Lichter, Joy Nakitandwe, Michael Rusch, Kayla V. Hamilton, Christelle Dufour, Geoffrey Neale, Kristian W. Pajtler, Kristian W. Pajtler, Amar Gajjar, Tina Veje Andersen, Antoine Forget   +67 more
openaire   +6 more sources

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Human Germline Mutation and the Erratic Evolutionary Clock [PDF]

PLOS Biology, 2016
AbstractOur understanding of the chronology of human evolution relies on the “molecular clock” provided by the steady accumulation of substitutions on an evolutionary lineage. Recent analyses of human pedigrees have called this understanding into question, by revealing unexpectedly low germline mutation rates, which imply that substitutions accrue more
Moorjani, Priya, Gao, Ziyue, Przeworski, Molly   +2 more
openaire   +7 more sources