Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: CDKN1B: V109A; rs2066827
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.
Prostate Cancer And Prostatic Diseases
Huynh-Le, Minh-Phuong MP; Karunamuni, Roshan R; Fan, Chun Chieh CC; Asona, Lui L; Thompson, Wesley K WK; Martinez, Maria Elena ME; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z; Muir, Kenneth R KR; Lophatananon, Artitaya A; Schleutker, Johanna J; Pashayan, Nora N; Batra, Jyotsna J; Grönberg, Henrik H; Neal, David E DE; Nordestgaard, Børge G BG; Tangen, Catherine M CM; MacInnis, Robert J RJ; Wolk, Alicja A; Albanes, Demetrius D; Haiman, Christopher A CA; Travis, Ruth C RC; Blot, William J WJ; Stanford, Janet L JL; Mucci, Lorelei A LA; West, Catharine M L CML; Nielsen, Sune F SF; Kibel, Adam S AS; Cussenot, Olivier O; Berndt, Sonja I SI; Koutros, Stella S; Sørensen, Karina Dalsgaard KD; Cybulski, Cezary C; Grindedal, Eli Marie EM; Menegaux, Florence F; Park, Jong Y JY; Ingles, Sue A SA; Maier, Christiane C; Hamilton, Robert J RJ; Rosenstein, Barry S BS; Lu, Yong-Jie YJ; Watya, Stephen S; Vega, Ana A; Kogevinas, Manolis M; Wiklund, Fredrik F; Penney, Kathryn L KL; Huff, Chad D CD; Teixeira, Manuel R MR; Multigner, Luc L; Leach, Robin J RJ; Brenner, Hermann H; John, Esther M EM; Kaneva, Radka R; Logothetis, Christopher J CJ; Neuhausen, Susan L SL; De Ruyck, Kim K; Ost, Piet P; Razack, Azad A; Newcomb, Lisa F LF; Fowke, Jay H JH; Gamulin, Marija M; Abraham, Aswin A; Claessens, Frank F; Castelao, Jose Esteban JE; Townsend, Paul A PA; Crawford, Dana C DC; Petrovics, Gyorgy G; van Schaik, Ron H N RHN; Parent, Marie-Élise MÉ; Hu, Jennifer J JJ; Zheng, Wei W; , ; , ; , ; , ; , ; , ; , ; Mills, Ian G IG; Andreassen, Ole A OA; Dale, Anders M AM; Seibert, Tyler M TM
Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.
Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Timothy M TM; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.
Bmc Cancer
Hoxhaj, Ilda I; Vukovic, Vladimir V; Boccia, Stefania S; Pastorino, Roberta R
Genetic Loci and Physiologic Pathways Involved in Gestational Diabetes Mellitus Implicated Through Clustering.
Diabetes
Powe, Camille E CE; Udler, Miriam S MS; Hsu, Sarah S; Allard, Catherine C; Kuang, Alan A; Manning, Alisa K AK; Perron, Patrice P; Bouchard, Luigi L; Lowe, William L WL; Scholtens, Denise D; Florez, Jose C JC; Hivert, Marie-France MF
Genetic Loci and Physiologic Pathways Involved in Gestational Diabetes Mellitus Implicated Through Clustering.
Diabetes
Powe, Camille E CE; Udler, Miriam S MS; Hsu, Sarah S; Allard, Catherine C; Kuang, Alan A; Manning, Alisa K AK; Perron, Patrice P; Bouchard, Luigi L; Lowe, William L WL; Scholtens, Denise D; Florez, Jose C JC; Hivert, Marie-France MF
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
Haworth, Simon S; Shapland, Chin Yang CY; Hayward, Caroline C; Prins, Bram P BP; Felix, Janine F JF; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Wang, Carol C; Ahluwalia, Tarunveer S TS; Vrijheid, Martine M; Guxens, Mònica M; Sunyer, Jordi J; Tachmazidou, Ioanna I; Walter, Klaudia K; Iotchkova, Valentina V; Jackson, Andrew A; Cleal, Louise L; Huffmann, Jennifer J; Min, Josine L JL; Sass, Lærke L; Timmers, Paul R H J PRHJ; , ; Davey Smith, George G; Fisher, Simon E SE; Wilson, James F JF; Cole, Tim J TJ; Fernandez-Orth, Dietmar D; Bønnelykke, Klaus K; Bisgaard, Hans H; Pennell, Craig E CE; Jaddoe, Vincent W V VWV; Dedoussis, George G; Timpson, Nicholas N; Zeggini, Eleftheria E; Vitart, Veronique V; St Pourcain, Beate B
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma.
Journal Of Cellular And Molecular Medicine
Capasso, Mario M; McDaniel, Lee D LD; Cimmino, Flora F; Cirino, Andrea A; Formicola, Daniela D; Russell, Mike R MR; Raman, Pichai P; Cole, Kristina A KA; Diskin, Sharon J SJ
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Nature Communications
Kiel, Mark J MJ; Sahasrabuddhe, Anagh A AA; Rolland, Delphine C M DCM; Velusamy, Thirunavukkarasu T; Chung, Fuzon F; Schaller, Matthew M; Bailey, Nathanael G NG; Betz, Bryan L BL; Miranda, Roberto N RN; Porcu, Pierluigi P; Byrd, John C JC; Medeiros, L Jeffrey LJ; Kunkel, Steven L SL; Bahler, David W DW; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ
Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).
The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis.
British Journal Of Cancer
Cunningham, J M JM; Vierkant, R A RA; Sellers, T A TA; Phelan, C C; Rider, D N DN; Liebow, M M; Schildkraut, J J; Berchuck, A A; Couch, F J FJ; Wang, X X; Fridley, B L BL; , ; Gentry-Maharaj, A A; Menon, U U; Hogdall, E E; Kjaer, S S; Whittemore, A A; DiCioccio, R R; Song, H H; Gayther, S A SA; Ramus, S J SJ; Pharaoh, P D P PD; Goode, E L EL
Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.
Plos One
Quaye, Lydia L; Tyrer, Jonathan J; Ramus, Susan J SJ; Song, Honglin H; Wozniak, Eva E; DiCioccio, Richard A RA; McGuire, Valerie V; Høgdall, Estrid E; Høgdall, Claus C; Blaakaer, Jan J; Goode, Ellen L EL; Schildkraut, Joellen M JM; Easton, Douglas F DF; Krüger-Kjaer, Susanne S; Whittemore, Alice S AS; Gayther, Simon A SA; Pharoah, Paul D P PD
Role of genetic polymorphisms and ovarian cancer susceptibility.
Molecular Oncology
Fasching, Peter A PA; Gayther, Simon S; Pearce, Leigh L; Schildkraut, Joellen M JM; Goode, Ellen E; Thiel, Falk F; Chenevix-Trench, Georgia G; Chang-Claude, Jenny J; Wang-Gohrke, Shan S; Ramus, Susan S; Pharoah, Paul P; Berchuck, Andrew A; ,
Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Phelan, Catherine M CM; Anderson, Stephanie S; Rider, David N DN; White, Kristin L KL; Pankratz, V Shane VS; Song, Honglin H; Hogdall, Estrid E; Kjaer, Susanne K SK; Whittemore, Alice S AS; DiCioccio, Richard R; Ramus, Susan J SJ; Gayther, Simon A SA; Schildkraut, Joellen M JM; Pharaoh, Paul P D PP; Sellers, Thomas A TA
Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort.
Breast Cancer Research : Bcr
Azzato, Elizabeth M EM; Driver, Kristy E KE; Lesueur, Fabienne F; Shah, Mitul M; Greenberg, David D; Easton, Douglas F DF; Teschendorff, Andrew E AE; Caldas, Carlos C; Caporaso, Neil E NE; Pharoah, Paul D P PD
Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Song, Honglin H; Hogdall, Estrid E; Ramus, Susan J SJ; Dicioccio, Richard A RA; Hogdall, Claus C; Quaye, Lydia L; McGuire, Valerie V; Whittemore, Alice S AS; Shah, Mitul M; Greenberg, David D; Easton, Douglas F DF; Kjaer, Susanne Kruger SK; Pharoah, Paul D P PD; Gayther, Simon A SA
Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.
Carcinogenesis
Driver, Kristy E KE; Song, Honglin H; Lesueur, Fabienne F; Ahmed, Shahana S; Barbosa-Morais, Nuno L NL; Tyrer, Jonathan P JP; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D P PD; Dunning, Alison M AM; ,
Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis.
Bmc Cancer
Figueiredo, Jane C JC; Knight, Julia A JA; Cho, Stewart S; Savas, Sevtap S; Onay, U Venus UV; Briollais, Laurent L; Goodwin, Pamela J PJ; McLaughlin, John R JR; Andrulis, Irene L IL; Ozcelik, Hilmi H