Results 31 to 40 of about 123,315 (302)

Germline Mutations and Their Clinical Applications in Cancer [PDF]

Breast Cancer Management, 2019
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Jean-Sébastien Milanese, Edwin Wang, Edwin Wang   +2 more
openaire   +2 more sources

Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA) [PDF]

, 2003
INTRODUCTION: Ancestral mutations in BRCA1 and BRCA2 are common in people of Ashkenazi Jewish descent and are associated with a substantially increased risk of breast and ovarian cancer.
Ellen Solomon, Fisher, S A, Lewis, C M; id_orcid, Lewis, CM, Southey, MC, John L Hopper, Hodgson, SV, Venter, DJ, Michael Friedlander, Hopper, JL, Hopper, J L, Solomon, E, Bankier, A, Hooper, J L, Cathryn M Lewis, Tucker, K, Melissa C Southey, Southey, M C, Lesley Andrews, Friedlander, M, Carmel Apicella, Hodgson, S V, Fisher, SA, Katherine Tucker, Venter, D J, Agnes Bankier, Apicella, C, Deon J Venter, Andrews, L, Shirley V Hodgson, Sheila A Fisher   +30 more
core   +1 more source

Germline mutation contribution to chromosomal instability [PDF]

Endocrine-Related Cancer, 2017
Genomic instability is a feature of cancer that fuels oncogenesis through increased frequency of genetic disruption, leading to loss of genomic integrity and promoting clonal evolution as well as tumor transformation. A form of genomic instability prevalent across cancer types is chromosomal instability, which involves karyotypic changes including ...
Sock Hoai, Chan, Joanne, Ngeow
openaire   +2 more sources

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer

Frontiers in Genetics, 2022
Background: Bowel cancer is the third-most common cancer and the second leading cause of cancer-related death worldwide. Bowel cancer has a substantial hereditary component; however, additional hereditary risk factors involved in bowel cancer ...
Zhengyong Xie, Yongli Ke, Junyong Chen, Zehang Li, Changzheng Wang, Yuhong Chen, Hongliang Ding, Liyang Cheng   +7 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

Origins and characterization of variants shared between databases of somatic and germline human mutations

BMC Bioinformatics, 2020
Background Mutations arise in the human genome in two major settings: the germline and the soma. These settings involve different inheritance patterns, time scales, chromatin structures, and environmental exposures, all of which impact the resulting ...
William Meyerson, John Leisman, Fabio C. P. Navarro, Mark Gerstein   +3 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

Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

Frontiers in Endocrinology, 2020
Background: Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same REarranged during Transfection (RET)
Jes Sloth Mathiesen, Jes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, Katalin Kiss, Karin Wadt, Anne Pernille Hermann, Morten Frost Nielsen, Stine Rosenkilde Larsen, Klaus Brusgaard, Anja Lisbeth Frederiksen, Christian Godballe, Maria Rossing   +12 more
doaj   +1 more source