Results 21 to 30 of about 114,676 (292)

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. [PDF]

PLoS Genetics, 2012
Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times ...
Soo-Kyung Choi, Song-Ro Yoon, Peter Calabrese, Norman Arnheim   +3 more
doaj   +1 more source

The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

eLife, 2022
In the past decade, several studies have estimated the human per-generation germline mutation rate using large pedigrees. More recently, estimates for various nonhuman species have been published.
Lucie A Bergeron, Søren Besenbacher, Tychele Turner, Cyril J Versoza, Richard J Wang, Alivia Lee Price, Ellie Armstrong, Meritxell Riera, Jedidiah Carlson, Hwei-yen Chen, Matthew W Hahn, Kelley Harris, April Snøfrid Kleppe, Elora H López-Nandam, Priya Moorjani, Susanne P Pfeifer, George P Tiley, Anne D Yoder, Guojie Zhang, Mikkel H Schierup   +19 more
doaj   +1 more source

Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) [PDF]

Zhongguo aizheng zazhi
Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can ...
China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee
doaj   +1 more source

Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer

BMC Cancer, 2019
Background Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the United States.
Tarun Karthik Kumar Mamidi, Jiande Wu, Chindo Hicks   +2 more
doaj   +1 more source

Germline mutations and blood malignancy (Review)

Oncology Reports, 2020
Germline mutations are congenital genetic mutations in germ cells that originate from sperm or ovum and are generally incorporated into every cell of the offspring's body. Somatic mutations are acquired genetic mutations that form under the influence of environmental factors during embryo formation and epigenetic development.
Yuping, Gong, Jili, Deng, Xia, Wu
openaire   +3 more sources

Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. [PDF]

PLoS ONE, 2012
Polycystic liver disease (PCLD) is an autosomal dominant disorder characterised by multiple fluid filled cysts in the liver. This rare disease is caused by heterozygous germline mutations in PRKCSH and SEC63.
Manoe J Janssen, Jody Salomon, René H M Te Morsche, Joost P H Drenth   +3 more
doaj   +1 more source

Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

Frontiers in Endocrinology, 2022
Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions.
Raphaelle D. Vallera, Yanli Ding, Kimmo J. Hatanpaa, Justin A. Bishop, Sasan Mirfakhraee, Abdel A. Alli, Sergei G. Tevosian, Mouna Tabebi, Mouna Tabebi, Oliver Gimm, Peter Söderkvist, Peter Söderkvist, Cynthia Estrada-Zuniga, Patricia L. M. Dahia, Hans K. Ghayee   +14 more
doaj   +1 more source

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 ...
Sebastian M. Waszak, Giles W, Robinson, Brian L. Gudenas, Kyle S. Smith, Antoine Forget, Marija Kojic, Jesus Garcia-Lopez, Jennifer Hadley, Kayla V. Hamilton, Emilie Indersie, Ivo Buchhalter, Jules Kerssemakers, Natalie Jäger, Tanvi Sharma, Tobias Rausch, Marcel Kool, Dominik Sturm, David T. W. Jones, Aksana Vasilyeva, Ruth G. Tatevossian, Geoffrey Neale, Bérangère Lombard, Damarys Loew, Joy Nakitandwe, Michael Rusch, Daniel C. Bowers, Anne Bendel, Sonia Partap, Murali Chintagumpala, John Crawford, Nicholas G. Gottardo, Amy Smith, Christelle Dufour, Stefan Rutkowski, Tone Eggen, Finn Wesenberg, Kristina Kjaerheim, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V. Andersen, Martin Röösli, Claudia E. Kuehni, Michael Grotzer, Marc Remke, Stéphanie Puget, Kristian W. Pajtler, Till Milde, Olaf Witt, Marina Ryzhova, Andrey Korshunov, Brent A. Orr, David W. Ellison, Laurence Brugieres, Peter Lichter, Kim E. Nichols, Amar Gajjar, Brandon J. Wainwright, Olivier Ayrault, Jan O. Korbel, Paul A. Northcott, Stefan M. Pfister   +62 more
openaire   +5 more sources

Germline mutations causing familial lung cancer [PDF]

Journal of Human Genetics, 2015
Genetic factors are important in lung cancer, but as most lung cancers are sporadic, little is known about inherited genetic factors. We identified a three-generation family with suspected autosomal dominant inherited lung cancer susceptibility. Sixteen individuals in the family had lung cancer.
Koichi Tomoshige, Keitaro Matsumoto, Tomoshi Tsuchiya, Masahiro Oikawa, Takuro Miyazaki, Naoya Yamasaki, Hiroyuki Mishima, Akira Kinoshita, Toru Kubo, Kiyoyasu Fukushima, Koh-ichiro Yoshiura, Takeshi Nagayasu   +11 more
openaire   +2 more sources

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.
Cornelis, R.S., van Vliet, M., van de Vijver, M.J., Vasen, H.F.A., Voûte, P.A., Top, B., Meera Khan, P., Devilee, P., Cornelisse, C.J.   +8 more
openaire   +3 more sources