Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives

Autor: Lara Bethke, Julian Peto, M.F. Rudd, Emily L. Webb, Stephen Penegar, Wendy Wood, Nichola Johnson, Mobshra Qureshi, Laura Withey, Richard S. Houlston, Ian Tomlinson, Olivia Fletcher, Rachid el Galta, Richard Gray, Gabrielle S. Sellick

To identify low penetrance susceptibility alleles for colorectal cancer (CRC), we genotyped 1467 non-synonymous SNPs mapping to 871 candidate cancer genes in 2575 cases and 2707 controls. nsSNP selection was biased towards those predicted to be funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85db7b68dcc89af8bead90c695cbd1d6
https://ora.ox.ac.uk/objects/uuid:fa4ab117-07c5-4722-9230-62c10f10ff7f

Comprehensive Analysis of DNA Repair Gene Variants and Risk of Meningioma

Autor: Anssi Auvinen, Beatrice Malmer, Polyxeni Dimitropoulou, Maria Feychting, Helle Collatz Christensen, Christoffer Johansen, Anne M. Murray, S. J. Hepworth, Lara Bethke, Patricia McKinney, Roger Henriksson, Anders Ahlbom, Michael Kosteljanetz, Richard S. Houlston, Minouk J. Schoemaker, Artitaya Lophatananon, Anne Kiuru, Stefan Lönn, Anthony J. Swerdlow, Kenneth Muir, Tiina Salminen, Emily L. Webb

Publikováno v: JNCI: Journal of the National Cancer Institute. 100:270-276

Background Meningiomas account for up to 37% of all primary brain tumors. Genetic susceptibility to meningioma is well established, with the risk among relatives of meningioma patients being approximately threefold higher than that in the general pop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b653c102e22c9133b8e58bd4b41944
https://doi.org/10.1093/jnci/djn004

Genomic heterogeneity in the density of noncoding single-nucleotide and microsatellite polymorphisms in Plasmodium falciparum

Autor: Karen P. Day, Alissa Myrick, Dyann F. Wirth, Sarah K. Volkman, Lara Bethke, Stanley Sawyer, Alyssa E. Barry, Daniel L. Hartl, Trevor Bedford, Elena R. Lozovsky

Publikováno v: Gene. 387:1-6

The density and distribution of single-nucleotide polymorphisms (SNPs) across the genome has important implications for linkage disequilibrium mapping and association studies, and the level of simple-sequence microsatellite polymorphisms has importan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986102f3f534fbedf4b4b2a76a4333c5
https://doi.org/10.1016/j.gene.2006.07.026

Research capacity. Enabling the genomic revolution in Africa

Autor: Charles, Rotimi, Akin, Abayomi, Alash'le, Abimiku, Victoria May, Adabayeri, Clement, Adebamowo, Ezekiel, Adebiyi, Adebowale D, Ademola, Adebowale, Adeyemo, Dwomoa, Adu, Dissou, Affolabi, Godfred, Agongo, Samuel, Ajayi, Sally, Akarolo-Anthony, Rufus, Akinyemi, Albert, Akpalu, Marianne, Alberts, Orlando, Alonso Betancourt, Ahmed Mansour, Alzohairy, Gobena, Ameni, Olukemi, Amodu, Gabriel, Anabwani, Kristian, Andersen, Fatiu, Arogundade, Oyedunni, Arulogun, Danny, Asogun, Rasheed, Bakare, Naby, Balde, Mary Lynn, Baniecki, Christine, Beiswanger, Alia, Benkahla, Lara, Bethke, Micheal, Boehnke, Vincent, Boima, James, Brandful, Andrew I, Brooks, Frank C, Brosius, Chester, Brown, Bruno, Bucheton, David T, Burke, Barrington G, Burnett, Stacy, Carrington-Lawrence, Nadia, Carstens, John, Chisi, Alan, Christoffels, Richard, Cooper, Heather, Cordell, Nigel, Crowther, Talishiea, Croxton, Jantina, de Vries, Leslie, Derr, Peter, Donkor, Seydou, Doumbia, Audrey, Duncanson, Ivy, Ekem, Ahmed, El Sayed, Mark E, Engel, John C K, Enyaru, Dean, Everett, Faisal M, Fadlelmola, Eyitayo, Fakunle, Kenneth H, Fischbeck, Anne, Fischer, Onikepe, Folarin, Junaid, Gamieldien, Robert F, Garry, Simani, Gaseitsiwe, Rasheed, Gbadegesin, Anita, Ghansah, Maria, Giovanni, Parham, Goesbeck, F Xavier, Gomez-Olive, Donald S, Grant, Ravnit, Grewal, Mark, Guyer, Neil A, Hanchard, Christian T, Happi, Scott, Hazelhurst, Branwen J, Hennig, Christiane, Hertz, Fowler, Winston, Hide, Friedhelm, Hilderbrandt, Christopher, Hugo-Hamman, Muntaser E, Ibrahim, Regina, James, Yasmina, Jaufeerally-Fakim, Carolyn, Jenkins, Ute, Jentsch, Pan-Pan, Jiang, Moses, Joloba, Victor, Jongeneel, Fourie, Joubert, Mukthar, Kader, Kathleen, Kahn, Pontiano, Kaleebu, Saidi H, Kapiga, Samar Kamal, Kassim, Ishmael, Kasvosve, Jonathan, Kayondo, Bernard, Keavney, Adeodata, Kekitiinwa, Sheik Humarr, Khan, Paul, Kimmel, Mary-Claire, King, Robert, Kleta, Mathurin, Koffi, Jeffrey, Kopp, Matthias, Kretzler, Judit, Kumuthini, Samuel, Kyobe, Catherine, Kyobutungi, Daniel T, Lackland, Karen A, Lacourciere, Guida, Landouré, Rita, Lawlor, Thomas, Lehner, Maia, Lesosky, Naomi, Levitt, Katherine, Littler, Zane, Lombard, Jeanne F, Loring, Sylvester, Lyantagaye, Annette, Macleod, Ebony B, Madden, Chengetai R, Mahomva, Julie, Makani, Manmak, Mamven, Marape, Marape, Graeme, Mardon, Patricia, Marshall, Darren P, Martin, Daniel, Masiga, Robin, Mason, Michael, Mate-Kole, Enock, Matovu, Mary, Mayige, Bongani M, Mayosi, Jean Claude, Mbanya, Sheryl A, McCurdy, Mark I, McCarthy, Helen, McIlleron, S O, Mc'Ligeyo, Corrine, Merle, Ana Olga, Mocumbi, Charles, Mondo, John V, Moran, Ayesha, Motala, Marva, Moxey-Mims, Wata Sununguko, Mpoloka, Chisomo L, Msefula, Thuli, Mthiyane, Nicola, Mulder, Gebregziab her, Mulugeta, Dieuodonne, Mumba, John, Musuku, Mo, Nagdee, Oyekanmi, Nash, Daouda, Ndiaye, Anh Quynh, Nguyen, Mark, Nicol, Oathokwa, Nkomazana, Shane, Norris, Betty, Nsangi, Alexander, Nyarko, Moffat, Nyirenda, Eileen, Obe, Reginald, Obiakor, Abraham, Oduro, Solomon F, Ofori-Acquah, Okechukwu, Ogah, Stephen, Ogendo, Kwaku, Ohene-Frempong, Akinlolu, Ojo, Timothy, Olanrewaju, John, Oli, Charlotte, Osafo, Odile, Ouwe Missi Oukem-Boyer, Bruce, Ovbiagele, Andrew, Owen, Mayowa Ojo, Owolabi, Lukman, Owolabi, Ellis, Owusu-Dabo, Guillaume, Pare, Rulan, Parekh, Hugh G, Patterton, Margaret B, Penno, Jane, Peterson, Rembert, Pieper, Jacob, Plange-Rhule, Martin, Pollak, Julia, Puzak, Rajkumar S, Ramesar, Michele, Ramsay, Rebekah, Rasooly, Shiksha, Reddy, Pardis C, Sabeti, Kwamena, Sagoe, Tunde, Salako, Oumar, Samassékou, Manjinder S, Sandhu, Osman, Sankoh, Fred Stephen, Sarfo, Marie, Sarr, Gasnat, Shaboodien, Issa, Sidibe, Gustave, Simo, Martin, Simuunza, Liam, Smeeth, Eugene, Sobngwi, Himla, Soodyall, Hermann, Sorgho, Oumou, Sow Bah, Sudha, Srinivasan, Dan J, Stein, Ezra S, Susser, Carmen, Swanepoel, Godfred, Tangwa, Andrew, Tareila, Ozlem, Tastan Bishop, Bamidele, Tayo, Nicki, Tiffin, Halidou, Tinto, Ekaete, Tobin, Stephen Meir, Tollman, Mahamadou, Traoré, Marsha J, Treadwell, Jennifer, Troyer, Masego, Tsimako-Johnstone, Vincent, Tukei, Ifeoma, Ulasi, Nzovu, Ulenga, Beverley, van Rooyen, Ablo Prudence, Wachinou, Salina P, Waddy, Alisha, Wade, Misaki, Wayengera, James, Whitworth, Louise, Wideroff, Cheryl A, Winkler, Sarah, Winnicki, Ambroise, Wonkam, Mengistu, Yewondwos, Tadase, sen, Nathan, Yozwiak, Heather, Zar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::60e5b038d43dbb4ce5dafc3d1f93ac20
http://hdl.handle.net/11562/937920

CASP8 D302H and meningioma risk: an analysis of five case-control series

Autor: Anthony J. Swerdlow, Anssi Auvinen, S. J. Hepworth, Stefan Lönn, Polyxeni Dimitropoulou, Artitaya Lophatananon, Helle Collatz Christensen, Anne Murray, Lara Bethke, Anne Kiuru, Anders Ahlbom, Richard S. Houlston, Minouk J. Schoemaker, Emily L. Webb, Beatrice Malmer, Tiina Salminen, Patricia McKinney, Kate Sullivan, Maria Feychting, Kenneth Muir, Roger Henriksson, Christoffer Johansen

Publikováno v: Cancer letters. 273(2)

Caspase 8 (CASP8) is a key regulator of apoptosis or programmed cell death, and hence a defence against cancer. The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. We tested the hypothesis that the CASP8 polym

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ade6048eea0377d4e568d67ff59f07b
https://pubmed.ncbi.nlm.nih.gov/18823701