Citations 6
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Dominguez–Valentin, Mev , Plazzer, John‐Paul , Sampson, Julian R. , Engel, Christoph , Aretz, Stefan , Sunde, Lone , Capellá, Gabriel , Balaguer, Francesc , Thomas, Huw , Evans, D. Gareth , Burn, John , Greenblatt, Marc S. , Cappel, Wouter H. de Vos tot Nederveen , Nielsen, Maartje , Bonanni, Bernardo , Tibiletti, Maria Grazia , Lindblom, Annika , Valle, Adriana Della , López-Köstner, Francisco, Gluck, Nathan , Katz, Lior H. , Heinimann, Karl , Vaccaro, Carlos , Nakken, Sigve , Hovig, Eivind , Green, Kate, Lalloo, Fiona, Hill, James , Perne, Claudia , Görgens, Heike, Holinski‐Feder, Elke , Holzapfel, Stefanie, Hüneburg, Robert , Doeberitz, Magnus von Knebel , Loeffler, Markus , Rahner, Nils, Steinke‐Lange, Verena , Schmiegel, Wolff , Vangala, Deepak , Crosbie, Emma J. , Pineda, Marta , Navarro, Matilde, Brunet, Joan , Moreira, Leticia , Sánchez, Ariadna , Serra‐Burriel, Miquel , Mints, Miriam, Kariv, Revital , Rosner, Guy , Piñero, Tamara Alejandra , Pavicic, Walter , Kalfayan, Pablo, Broeke, Sanne W. ten , Mecklin, Jukka‐Pekka , Pylvänäinen, Kirsi , Renkonen‐Sinisalo, Laura , Lepistö, Anna , Peltomäki, Païvi , Win, Aung Ko , Buchanan, Daniel D. , Lindor, Noralane M. , Gallinger, Steven , Marchand, Loı̈c Le , Figueiredo, Jane C. , Thibodeau, Stephen N. , Hansen, Thomas van Overeem , Lindberg, Lars Joachim , Rødland, Einar Andreas , Neffa, Florencia , Esperón, Patricia, Tjandra, Douglas , Seppälä, Toni T. , Møller, Pål , Capella, Gabriel , Balaguer, Francesc , Evans, D Gareth , Burn, John , de Vos Tot Nederveen Cappel, Wouter H , Nielsen, Maartje , Bonanni, Bernardo , Gluck, Nathan , Vaccaro, Carlos A , Nakken, Sigve , Hovig, Eivind , Hüneburg, Robert , Steinke-Lange, Verena , Vangala, Deepak , Crosbie, Emma J , Pineda, Marta , Brunet, Joan , Moreira, Leticia , Sánchez, Ariadna , Pavicic, Walter Hernán , Broeke, Sanne W Ten , Pylvänäinen, Kirsi , Win, Aung K , Buchanan, Daniel D , Marchand, Loïc Le , Rødland, Einar Andreas , Esperon, Patricia , Tjandra, Douglas , Seppälä, Toni T , Sunde, Lone , Engel, Christoph , Hansen, Thomas van Overeem , Lindblom, Annika , Jenkins, Mark A. , Bernstein, Inge , Macrae, Finlay , Winship, Ingrid , Sijmons, Rolf H. , Bertario, Lucio , Cavestro, Giulia Martina , Álvarez, Karin , Vasen, Hans F. A. , Büttner, Reinhard , Morak, Monika , Weitz, Jürgen , Mints, Miriam , Hopper, John L. , Newcomb, Polly A. , Therkildsen, Christina , Möslein, Gabriela
Journal of Clinical Medicine | June 28, 2021 | Volume: 10 | Issue: 13 | Pages: 2856
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
Harinck, Femme , Hruban, Ralph H. , Offerhaus, G. Johan A. , Poley, Jan‐Werner , Kamel, Ihab R. , Nio, Yung, Schulick, Richard, Bassi, Claudio, Kluijt, Irma, Levy, Michael J. , Chak, Amitabh , Bruno, Marco J. , Vasen, Hans F. A. , Salvia, Roberto , Hammel, Pascal , Canto, Marcia Irene , Fockens, Paul , Goggins, Michael
Gut | November 8, 2012 | Volume: 62 | Issue: 3 | Pages: 339-347
Background Screening individuals at increased risk for pancreatic cancer (PC) detects early, potentially curable, pancreatic neoplasia. Objective To develop consortium statements on screening, surveillance and management of high-risk individuals with an inherited predisposition to PC. Methods A 49-expert multidisciplinary international consortium met to discuss pancreatic screening and vote on statements. Consensus was considered reached if ≥75% agreed or disagreed. Results There was excellent agreement that, to be successful, a screening programme should detect and treat T1N0M0 margin-negative PC and high-grade dysplastic precursor lesions (pancreatic intraepithelial neoplasia and intraductal papillary mucinous neoplasm). It was agreed that the following were candidates for screening: first-degree relatives (FDRs) of patients with PC from a familial PC kindred with at least two affected FDRs; patients with Peutz–Jeghers syndrome; and p16 , BRCA 2 and hereditary non-polyposis colorectal cancer (HNPCC) mutation carriers with ≥1 affected FDR. Consensus was not reached for the age to initiate screening or stop surveillance. It was agreed that initial screening should include endoscopic ultrasonography (EUS) and/or MRI/magnetic resonance cholangiopancreatography not CT or endoscopic retrograde cholangiopancreatography. There was no consensus on the need for EUS fine-needle aspiration to evaluate cysts. There was disagreement on optimal screening modalities and intervals for follow-up imaging. When surgery is recommended it should be performed at a high-volume centre. There was great disagreement as to which screening abnormalities were of sufficient concern to for surgery to be recommended. Conclusions Screening is recommended for high-risk individuals, but more evidence is needed, particularly for how to manage patients with detected lesions. Screening and subsequent management should take place at high-volume centres with multidisciplinary teams, preferably within research protocols.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. Gareth , Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier‐Villars, Marion , Lasset, Christine, Giraud, Sophie , Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay , Eisinger, François , Paillerets, Brigitte Bressac–de , Delnatte, Capucine, Collaborators, GEMO Study, Goldgar, David E., Miron, Alex, Özçelik, Hilmi, Southey, Melissa C. , Terry, Mary Beth , Registry, The Breast Cancer Family, Dressler, Anne-Catharina, Tea, Muy‐Kheng M., Hansen, Thomas van Overeem , Jóhannsson, Óskar Þór, Piedmonte, Marion, Rodriguez, Gustavo C. , Basil, Jack, Blank, Stephanie V. , Montagna, Marco , Blanco, Ignacio , Gayther, Simon A. , Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ditsch, Nina , Arnold, Norbert , Niederacher, Dieter , Sutter, Christian , Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel , Nevanlinna, Heli , Chen, Xiaoqing, Spurdle, Amanda B. , Ding, Yuan Chun , Peterlongo, Paolo , Manoukian, Siranoush , Bernard, Loris, Radice, Paolo , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Mazoyer, Sylvie, Sinilnikova, Olga M., Sinilnikova, Olga M., Dumont, Martine, Mai, Phuong , Greene, MH, Glendon, Gord, Selander, Teresa, Weerasooriya, Nayana , Karlsson, Per, Nordling, Margareta , Bergman, Annika, Einbeigi, Zakaria , Stenmark-Askmalm, Marie, Liedgren, S, Borg, Åke, Loman, Niklas, Olsson, Håkan , Kristoffersson, Ulf , Harbst, Katja , Henriksson, Karin, Lindblom, Annika , Arver, Brita, Wachenfeldt, Anna von , Liljegren, Annelie, Rantala, Johanna, Melin, Beatrice , Grönberg, Henrik , Stattin, Eva‐Lena , Emanuelsson, Monica, Ehrencrona, Hans , Seidel‐Renkert, Antje, Hogervorst, Frans B.L., Verhoef, S., Verheus, Martijn, Veer, Laura J. van’t , Leeuwen, Flora E. van , Rookus, M.A., Collée, Margriet , Ouweland, A.M.W. van den, Jager, Agnes , Hooning, Maartje J. , Tilanus‐Linthorst, Madeleine M.A., Seynaeve, Caroline, Asperen, C.J. van, Tollenaar, R.A., Devilee, P., Ligtenberg, M.J., Hoogerbrugge, Nicoline , Ausems, M.G., Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Gómez, E. , Roozendaal, Cees E. 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Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C. , Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Peterlongo, Paolo , Manoukian, Siranoush , Peissel, Bernard , Zaffaroni, Daniela , Cattaneo, Elisa , Barile, Monica, Pensotti, Valeria , Pasini, Barbara , Dolcetti, Riccardo , Giannini, Giuseppe , Putignano, Anna Laura , Varesco, Liliana , Radice, Paolo , Mai, Phuong L., Greene, Mark H. , Andrulis, Irene L. , Glendon, Gord , Özçelik, Hilmi, Thomassen, Mads , Gerdes, Anne‐Marie , Kruse, Torben A., Jensen, Uffe Birk , Crüger, Dorthe Gylling, Caligo, Maria A. , Laitman, Yael , Milgrom, Roni, Friedman, Eitan , Loman, Niklas, Harbst, Katja , Lindblom, Annika , Arver, Brita, Ehrencrona, Hans , Melin, Beatrice , SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Jakubowska, Anna , Lubiński, Jan , Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Górski, Bohdan , Osório, Ana , Hamann, Ute, Hogervorst, Frans B.L., Rookus, Matti A. , Hooning, Maartje J. , Nelen, Marcel , Luijt, Rob B. van der , Os, Theo A.M. van, Meijers‐Heijboer, Hanne , Gómez, E. , HEBON, Peock, Susan, Cook, Margaret , Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D. Gareth , Lalloo, Fiona, Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian , Davidson, Rosemarie, Eccles, Diana , Ong, Kai-Ren, Douglas, Fiona, Paterson, Joan, Miedzybrodzka, Zosia , EMBRACE, Buecher, Bruno , Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie , Barjhoux, Laure, Lasset, Christine , Leroux, Dominique, Faivre, Laurence, Bronner, Myriam , Prieur, Fabienne, Noguès, Catherine , Rouleau, Étienne , Coupier, Isabelle, Frénay, Marc, Collaborators, CEMO Study, Daly, Mary B., Terry, Mary Beth , John, Esther M. , Yassin, Yosuf, Miron, Alexander, Goldgar, David E., Registry, Breast Cancer Family, Singer, Christian F., Tea, Muy‐Kheng, Pfeiler, Georg , Dressler, Anne Catharina, Hansen, Thomas van Overeem , Jønson, Lars, Ejlertsen, Bent , Barkardóttir, Rósa B. , Kirchhoff, Tomas , Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C. , Small, Laurie, Boggess, John F., Blank, Stephanie V. , Basil, Jack, Montagna, Marco , Tognazzo, Silvia , Imyanitov, Evgeny , Janavičius, Ramūnas , Lázaro, Conxi , Blanco, Ignacio , Sucheston, Lara, Walsh, Christine , Oláh, Edith , Bozsik, Anikó , Teo, Soo‐Hwang , Seldon, Joyce, Beattie, Mary, Rensburg, Elizabeth J. van , Sluiter, Michelle D., Dı́ez, Orland , Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ruehl, I., Varon-Mateeva, Raymonda, Kast, Karin, Deißler, Helmut , Niederacher, Dieter , Arnold, Norbert , Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, Hoya, Miguel de la , Nevanlinna, Heli , Aittomäki, Kristiina, Dumont, Martine , Chiquette, Jocelyne , Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B. , investigators, kConFab, Ding, Yuan Chun , Fredericksen, Zachary, Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , CIMBA, on behalf of, Sutter, Christian , Vasen, Hans F. A. , Durocher, Francine , Rahman, Nazneen , Karlsson, Per , Nordling, Margareta , Olsson, Håkan , Hoogerbrugge, Nicoline , Waisfisz, Quinten , Barton, David , Tobias, Edward S. , Jacobs, Chris , Ellis, Ian O. , Castro, Elena , Lucassen, Anneke , Gladieff, Laurence , Thorne, Heather , Stenmark‐Askmalm, Marie , Faivre, Laurence , Kartsonaki, Christiana , Lee, Andrew , Mai, Phuong L., Kaufman, Bella , Paluch–Shimon, Shani , SWE-BRCA, Domchek, Susan M. , Gronwald, Jacek , Cajal, Teresa Ramón y , Fostira, Florentia , Andrés, Raquel , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, Cook, Jackie A , Kennedy, Michael John , EMBRACE, Godwin, Andrew K. , Stoppa‐Lyonnet, Dominique , Pujol, Pascal , Collaborators, CEMO Study, Hopper, John L. , Buys, Saundra S. , Registry, Breast Cancer Family, Singer, Christian F. , Azodi, Masoud , Toland, Amanda Ewart , Agata, Simona , Pharoah, Paul D.P. , Karlan, Beth Y. , Meindl, Alfons , Caldes, Trinidad, Tischkowitz, Marc D. , Chen, Xiaoqing, investigators, kConFab, Neuhausen, Susan L. , Wang, Xianshu , Pankratz, V. Shane , Couch, Fergus J. , CIMBA, on behalf of, Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , van der Luijt, Rob B , Jakubowska, Anna , Nathanson, Katherine L , Bozsik, Aniko , Engel, Christoph , Lazaro, Conxi , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Pasini, Barbara , Manoukian, Siranoush , Lubinski, Jan , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian
Human Molecular Genetics | May 19, 2011 | Volume: 20 | Issue: 16 | Pages: 3304-3321
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
Baglietto, Laura , Lindor, Noralane M. , Dowty, James G. , White, Darren M., Gómez, E. , Vriends, A. H. J. T., Group, Dutch Lynch Syndrome Study, Cartwright, Nicola, Barnetson, Rebecca A., Farrington, Susan M. , Tenesa, Albert , Buchanan, Daniel D. , Arnold, Sven, Young, Joanne , Walsh, Michael D. , Jass, Jeremy R., Antill, Yoland , Winship, Ingrid , Giles, Graham G. , Goldblatt, Jack, Parry, Susan, Suthers, Graeme , Leggett, Barbara , Butz, Malinda L., Aronson, Melyssa , Poynter, Jenny N. , Gallinger, Steve, Potter, John D. , Chapelle, Albert de la , Vasen, Hans F. A. , Dunlop, Malcolm G. , Thibodeau, Stephen N. , Jenkins, Mark A. , Wagner, Anja , Group, Dutch Lynch Syndrome Study, Hampel, Heather , Macrae, Finlay , Baron, John A. , Marchand, Loı̈c Le , Haile, Robert W. , Hopper, John L. , Buchanan, Daniel D , Giles, Graham G , Jenkins, Mark A , Potter, John D , Winship, Ingrid M , Gómez-García, Encarna B , Baglietto, Laura
JNCI: Journal of the National Cancer Institute | December 22, 2009 | Volume: 102 | Issue: 3 | Pages: 193-201
AURKAF31I Polymorphism and Breast Cancer Risk inBRCA1andBRCA2Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Sinilnikova, Olga M., Vierkant, Robert A. , Fredericksen, Zachary S., Coupier, Isabelle, Hughes, David J. , Hardouin, Agnès, Berthet, Pascaline, Peock, Susan, Cook, Margaret , Baynes, Caroline, Hodgson, Shirley, Porteous, Mary, Jakubowska, Anna , Spurdle, Amanda B. , kConFab, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph , Meindl, Alfons , Sutter, Christian , Horst, Jürgen, Schaefer, Dieter, Offit, Kenneth, Kirchhoff, Tomas , Andrulis, Irene L. , Ilyushik, Eduard, Glendon, Gordon, Vasen, Hans F. A. , Borg, Åke , Backenhorn, Katja, Struewing, Jeffery P. , Greene, Mark H. , Nathanson, Katherine L. , Zikán, Michal , Foretová, Lenka , Sellers, Thomas A. , Lindor, Noralane M. , Nevanlinna, Heli , Tommiska, Johanna , Aittomäki, Kristiina, Hamann, Ute , Rashid, Muhammad Usman , Torres, Diana , Simard, Jacques , Durocher, Francine , Lynch, Henry T., Weitzel, Jeffrey N. , Olopade, Olufunmilayo I. , Narod, Steven A. , Daly, Mary B., Easton, Douglas F., Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Evans, D. Gareth , Thorne, Heather , Couch, Fergus J. , Pankratz, V. Shane , Stoppa‐Lyonnet, Dominique , Morrison, Patrick J. , Lubiński, Jan , Gronwald, Jacek , kConFab, Meindl, Alfons , Devilee, Peter , Vreeswijk, Maaike P.G. , Neuhausen, Susan L. , Rebbeck, Timothy R. , Domchek, Susan M. , Wagner, Theresa Maria , Garber, Judy E. , Szabo, Csilla I. , Olson, Janet E. , Guénard, Frédéric , Isaacs, Claudine , Godwin, Andrew K. , Tomlinson, Gail Elizabeth , Nevanlinna, H , Spurdle, Amanda B , Vierkant, Robert A , Weitzel, Jeffrey N , Evans, D Gareth , Olopade, Olufunmilayo I , Jakubowska, Anna , Torres, Diana , Nathanson, Katherine L , Engel, Christoph , Simard, Jacques , Chenevix-Trench, Georgia , Rashid, Muhammad U , Hughes, David J
Cancer Epidemiology, Biomarkers & Prevention | July 12, 2007 | Volume: 16 | Issue: 7 | Pages: 1416-1421
AbstractThe AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.06]. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% CI, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers. (Cancer Epidemiol Biomarkers Prev 2007;16(7):1416–21)