155 related articles for article (PubMed ID: 28306219)
1. Characterization of a novel POLD1 missense founder mutation in a Spanish population.
Ferrer-Avargues R; Díez-Obrero V; Martín-Tomás E; Hernández-Illán E; Castillejo MI; Codoñer-Alejos A; Barberá VM; Sánchez-Heras AB; Segura Á; Juan MJ; Tena I; Castillejo A; Soto JL
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28306219
[TBL] [Abstract][Full Text] [Related]
2. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD; Stewart JR; Clendenning M; Rosty C; Mahmood K; Pope BJ; Jenkins MA; Hopper JL; Southey MC; Macrae FA; Winship IM; Win AK
Genet Med; 2018 Aug; 20(8):890-895. PubMed ID: 29120461
[TBL] [Abstract][Full Text] [Related]
3. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido F; Pineda M; Aiza G; Valdés-Mas R; Navarro M; Puente DA; Pons T; González S; Iglesias S; Darder E; Piñol V; Soto JL; Valencia A; Blanco I; Urioste M; Brunet J; Lázaro C; Capellá G; Puente XS; Valle L
Genet Med; 2016 Apr; 18(4):325-32. PubMed ID: 26133394
[TBL] [Abstract][Full Text] [Related]
4. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Borràs E; Pineda M; Blanco I; Jewett EM; Wang F; Teulé A; Caldés T; Urioste M; Martínez-Bouzas C; Brunet J; Balmaña J; Torres A; Ramón y Cajal T; Sanz J; Pérez-Cabornero L; Castellví-Bel S; Alonso A; Lanas A; González S; Moreno V; Gruber SB; Rosenberg NA; Mukherjee B; Lázaro C; Capellá G
Cancer Res; 2010 Oct; 70(19):7379-91. PubMed ID: 20858721
[TBL] [Abstract][Full Text] [Related]
5. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D; Broderick P; Frampton M; Kinnersley B; Sherborne A; Penegar S; Lloyd A; Ma YP; Dobbins SE; Houlston RS
J Clin Oncol; 2015 Feb; 33(5):426-32. PubMed ID: 25559809
[TBL] [Abstract][Full Text] [Related]
6. High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
Mukherjee B; Rennert G; Ahn J; Dishon S; Lejbkowicz F; Rennert HS; Shiovitz S; Moreno V; Gruber SB
Gastroenterology; 2011 Jun; 140(7):1919-26. PubMed ID: 21419771
[TBL] [Abstract][Full Text] [Related]
7. A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.
Legrand C; Lebrun M; Naïbo P; Peysselon M; Prieur F; Kientz C; Desseigne F; Handallou S; Rey JM; Nambot S; Goussot V; Hamzaoui N; Wang Q
Eur J Med Genet; 2022 Feb; 65(2):104409. PubMed ID: 34954152
[TBL] [Abstract][Full Text] [Related]
8. POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Rosner G; Gluck N; Carmi S; Bercovich D; Fliss-Issakov N; Ben-Yehoyada M; Aharon-Caspi S; Kellerman E; Strul H; Shibolet O; Kariv R
Dis Colon Rectum; 2018 Sep; 61(9):1073-1079. PubMed ID: 30086056
[TBL] [Abstract][Full Text] [Related]
9. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Mur P; Pineda M; Romero A; Del Valle J; Borràs E; Canal A; Navarro M; Brunet J; Rueda D; Ramón Y Cajal T; Lázaro C; Caldés T; Blanco I; Soto JL; Capellá G
Clin Genet; 2014 Mar; 85(3):260-6. PubMed ID: 23530899
[TBL] [Abstract][Full Text] [Related]
10. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P; MacMillan A; Boyd N; Senz J; De Luca A; Chun N; Suriano G; Zaor S; Van Manen L; Gilpin C; Nikkel S; Connolly-Wilson M; Weissman S; Rubinstein WS; Sebold C; Greenstein R; Stroop J; Yim D; Panzini B; McKinnon W; Greenblatt M; Wirtzfeld D; Fontaine D; Coit D; Yoon S; Chung D; Lauwers G; Pizzuti A; Vaccaro C; Redal MA; Oliveira C; Tischkowitz M; Olschwang S; Gallinger S; Lynch H; Green J; Ford J; Pharoah P; Fernandez B; Huntsman D
JAMA; 2007 Jun; 297(21):2360-72. PubMed ID: 17545690
[TBL] [Abstract][Full Text] [Related]
11. Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
Castellsagué E; Liu J; Volenik A; Giroux S; Gagné R; Maranda B; Roussel-Jobin A; Latreille J; Laframboise R; Palma L; Kasprzak L; Marcus VA; Breguet M; Nolet S; El-Haffaf Z; Australie K; Gologan A; Aleynikova O; Oros-Klein K; Greenwood C; Mes-Masson AM; Provencher D; Tischkowitz M; Chong G; Rousseau F; Foulkes WD
Clin Genet; 2015 Jun; 87(6):536-42. PubMed ID: 25318681
[TBL] [Abstract][Full Text] [Related]
12. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L; Hernández-Illán E; Bellido F; Aiza G; Castillejo A; Castillejo MI; Navarro M; Seguí N; Vargas G; Guarinos C; Juarez M; Sanjuán X; Iglesias S; Alenda C; Egoavil C; Segura Á; Juan MJ; Rodriguez-Soler M; Brunet J; González S; Jover R; Lázaro C; Capellá G; Pineda M; Soto JL; Blanco I
Hum Mol Genet; 2014 Jul; 23(13):3506-12. PubMed ID: 24501277
[TBL] [Abstract][Full Text] [Related]
13. The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD; Thiffault I; Gruber SB; Horwitz M; Hamel N; Lee C; Shia J; Markowitz A; Figer A; Friedman E; Farber D; Greenwood CM; Bonner JD; Nafa K; Walsh T; Marcus V; Tomsho L; Gebert J; Macrae FA; Gaff CL; Paillerets BB; Gregersen PK; Weitzel JN; Gordon PH; MacNamara E; King MC; Hampel H; De La Chapelle A; Boyd J; Offit K; Rennert G; Chong G; Ellis NA
Am J Hum Genet; 2002 Dec; 71(6):1395-412. PubMed ID: 12454801
[TBL] [Abstract][Full Text] [Related]
14. Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Elsayed FA; Tops CMJ; Nielsen M; Ruano D; Vasen HFA; Morreau H; J Hes F; van Wezel T
Mol Genet Genomic Med; 2019 Apr; 7(4):e00603. PubMed ID: 30827058
[TBL] [Abstract][Full Text] [Related]
15. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
von Salomé J; Liu T; Keihäs M; Morak M; Holinski-Feder E; Berry IR; Moilanen JS; Baert-Desurmont S; Lindblom A; Lagerstedt-Robinson K
Fam Cancer; 2018 Oct; 17(4):531-537. PubMed ID: 29288294
[TBL] [Abstract][Full Text] [Related]
16. Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.
Kang SY; Park CK; Chang DK; Kim JW; Son HJ; Cho YB; Yun SH; Kim HC; Kwon M; Kim KM
Int J Cancer; 2015 Apr; 136(7):1568-78. PubMed ID: 25110875
[TBL] [Abstract][Full Text] [Related]
17. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L; Clendenning M; Sotamaa K; Hampel H; Green J; Potter JD; Lindblom A; Lagerstedt K; Thibodeau SN; Lindor NM; Young J; Winship I; Dowty JG; White DM; Hopper JL; Baglietto L; Jenkins MA; de la Chapelle A
Gastroenterology; 2008 Aug; 135(2):419-28. PubMed ID: 18602922
[TBL] [Abstract][Full Text] [Related]
18. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.
Lynch HT; Coronel SM; Okimoto R; Hampel H; Sweet K; Lynch JF; Barrows A; Wijnen J; van der Klift H; Franken P; Wagner A; Fodde R; de la Chapelle A
JAMA; 2004 Feb; 291(6):718-24. PubMed ID: 14871915
[TBL] [Abstract][Full Text] [Related]
19. Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
Pérez-Cabornero L; Borrás Flores E; Infante Sanz M; Velasco Sampedro E; Acedo Becares A; Lastra Aras E; Cuevas González J; Pineda Riu M; Ramón y Cajal Asensio T; Capellá Munar G; Miner Pino C; Durán Domínguez M
Cancer Prev Res (Phila); 2011 Oct; 4(10):1546-55. PubMed ID: 21778331
[TBL] [Abstract][Full Text] [Related]
20. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
Vermaut C; Leclerc J; Vasseur F; Wacrenier A; Lovecchio T; Boidin D; Rebergue MH; Cattan S; Manouvrier S; Lejeune S; Buisine MP
Genes Chromosomes Cancer; 2020 Feb; 59(2):111-118. PubMed ID: 31433521
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
