Results 21 to 30 of about 3,303,931 (259)

A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes [PDF]

, 2004
The aim of the study was to compare psychosocial outcomes for 50 new clinic attendees, referred for cancer genetic counselling to five UK centres. The centres represented England, Scotland and Wales, and were randomly selected from groups ranked by ...
Wonderling, D., Gray, J, Eccles, D, Steel, Michael, McPherson, K., D Eccles, D Wonderling, Murday, V, Eccles, D., McPherson, K, Wonderling, D, V Murday, Steel, M., P Hopwood, Hopwood, P, Watson, M., Douglas, F., A Cull, Steel, M, Douglas, F, Cole, T., Watson, M, K McPherson, Gray, J., Murday, V., F Douglas, Cull, A., T Cole, J Burn, Cole, T, Hopwood, P., J Gray, Burn, J., Cull, A, M Steel, Burn, J, Gray, Jonathon, M Watson, Hopwood, Penelope   +38 more
core   +1 more source

Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women

Cancer Biology & Medicine, 2022
Objective: There are many hereditary breast cancer patients in China, and multigene panel testing has been a new paradigm of genetic testing for these patients and their relatives.
Fenfen Fu, Dongjie Zhang, Li Hu, Senthil Sundaram, Dingge Ying, Ying Zhang, Shuna Fu, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +10 more
doaj   +1 more source

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Acta Neuropathologica Communications, 2020
Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases ...
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca   +7 more
doaj   +1 more source

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes [PDF]

, 2016
Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes.
Amy L. Sherborne, Dobbins, SE, Chubb, D, Sherborne, AL, Kinnersley, B, Sara E. Dobbins, Daniel Chubb, Houlston, RS, Ben Kinnersley, Broderick, P, Richard S. Houlston, Peter Broderick   +11 more
core   +1 more source

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

BMC Gastroenterology, 2022
Objective The unknown aetiology of Serrated Polyposis Syndrome (SPS) impedes risk prediction and prevention. We investigated risk factors for SPS, overall and stratified by World Health Organization (WHO)2010 clinical criteria and by colorectal cancer ...
Emma Anthony, Jeanette C. Reece, Elasma Milanzi, Jihoon E. Joo, Sharelle Joseland, Mark Clendenning, Amanda Whelan, Susan Parry, Julie Arnold, Varnika Vijay, Nathan Atkinson, John L. Hopper, Aung K. Win, Mark A. Jenkins, Finlay A. Macrae, Ingrid M. Winship, Christophe Rosty, Daniel D. Buchanan, for the Australasian Coloretal Cancer Family Registry, the Family Cancer Clinics of Australia, the Genetics of Colonic Polyposis Study   +20 more
doaj   +1 more source

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

BMC Cancer, 2023
Background Damaging alterations in the BRCA1 gene have been extensively described as one of the main causes of hereditary breast and ovarian cancer (HBOC).
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue   +13 more
doaj   +1 more source

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

BMC Medical Genomics, 2018
Background The use of next-generation sequencing approaches in clinical diagnostics has led to a tremendous increase in data and a vast number of variants of uncertain significance that require interpretation.
Corinna Ernst, Eric Hahnen, Christoph Engel, Michael Nothnagel, Jonas Weber, Rita K. Schmutzler, Jan Hauke   +6 more
doaj   +1 more source

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

German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program

Hereditary Cancer in Clinical Practice, 2018
Background Pancreatic cancer screening is recommended to individuals at risk (IAR) of familial pancreatic cancer (FPC) families, but little is known about the acceptance of such screening programs.
Frederike S. Franke, Elvira Matthäi, Emily P. Slater, Christoph Schicker, Johannes Kruse, Detlef K. Bartsch   +5 more
doaj   +1 more source

Implantation metastasis from sigmoid colon cancer to rectal anastomosis proved by whole exome sequencing and lineage inference for cancer heterogeneity and evolution analysis: Case report and literature review

Frontiers in Oncology, 2022
It was estimated that 70% of patients with colorectal cancer were found to have viable exfoliated malignant cells in adjacent intestinal lumen. Exfoliated malignant cells had been reported to implant on raw surfaces, such as polypectomy site, anal ...
Guan Yu Yu, Guan Yu Yu, Xian Hua Gao, Xian Hua Gao, Li Jian Xia, De Bin Sun, Tao Liu, Wei Zhang, Wei Zhang   +8 more
doaj   +1 more source