199 related articles for article (PubMed ID: 37336879)
1. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K; Ward JC; Soriano I; Martin L; Campbell A; Rahbari R; Kafetzopoulos I; Sproul D; Green A; Sampson JR; Donaldson A; Ong KR; Heinimann K; Nielsen M; Thomas H; Latchford A; Palles C; Tomlinson I
Nat Commun; 2023 Jun; 14(1):3636. PubMed ID: 37336879
[TBL] [Abstract][Full Text] [Related]
2. Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.
Sasani TA; Pedersen BS; Gao Z; Baird L; Przeworski M; Jorde LB; Quinlan AR
Elife; 2019 Sep; 8():. PubMed ID: 31549960
[TBL] [Abstract][Full Text] [Related]
3. First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.
Morak M; Massdorf T; Sykora H; Kerscher M; Holinski-Feder E
Eur J Cancer; 2011 May; 47(7):1046-55. PubMed ID: 21195604
[TBL] [Abstract][Full Text] [Related]
4. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
Pitroski CE; Cossio SL; Koehler-Santos P; Graudenz M; Prolla JC; Ashton-Prolla P
Int J Colorectal Dis; 2011 Jul; 26(7):841-6. PubMed ID: 21424714
[TBL] [Abstract][Full Text] [Related]
5. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Spier I; Holzapfel S; Altmüller J; Zhao B; Horpaopan S; Vogt S; Chen S; Morak M; Raeder S; Kayser K; Stienen D; Adam R; Nürnberg P; Plotz G; Holinski-Feder E; Lifton RP; Thiele H; Hoffmann P; Steinke V; Aretz S
Int J Cancer; 2015 Jul; 137(2):320-31. PubMed ID: 25529843
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Spontaneous de novo germline mutations in humans and mice: rates, spectra, causes and consequences.
Ohno M
Genes Genet Syst; 2019 Apr; 94(1):13-22. PubMed ID: 30381610
[TBL] [Abstract][Full Text] [Related]
8. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
Lopes-Marques M; Mort M; Carneiro J; Azevedo A; Amaro AP; Cooper DN; Azevedo L
Hum Genomics; 2024 Feb; 18(1):20. PubMed ID: 38395944
[TBL] [Abstract][Full Text] [Related]
9. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Elsayed FA; Kets CM; Ruano D; van den Akker B; Mensenkamp AR; Schrumpf M; Nielsen M; Wijnen JT; Tops CM; Ligtenberg MJ; Vasen HF; Hes FJ; Morreau H; van Wezel T
Eur J Hum Genet; 2015 Aug; 23(8):1080-4. PubMed ID: 25370038
[TBL] [Abstract][Full Text] [Related]
10. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Adam R; Spier I; Zhao B; Kloth M; Marquez J; Hinrichsen I; Kirfel J; Tafazzoli A; Horpaopan S; Uhlhaas S; Stienen D; Friedrichs N; Altmüller J; Laner A; Holzapfel S; Peters S; Kayser K; Thiele H; Holinski-Feder E; Marra G; Kristiansen G; Nöthen MM; Büttner R; Möslein G; Betz RC; Brieger A; Lifton RP; Aretz S
Am J Hum Genet; 2016 Aug; 99(2):337-51. PubMed ID: 27476653
[TBL] [Abstract][Full Text] [Related]
11. Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Georgeson P; Pope BJ; Rosty C; Clendenning M; Mahmood K; Joo JE; Walker R; Hutchinson RA; Preston S; Como J; Joseland S; Win AK; Macrae FA; Hopper JL; Mouradov D; Gibbs P; Sieber OM; O'Sullivan DE; Brenner DR; Gallinger S; Jenkins MA; Winship IM; Buchanan DD
Gut; 2021 Nov; 70(11):2138-2149. PubMed ID: 33414168
[TBL] [Abstract][Full Text] [Related]
12. Germline
Lindsay H; Scollon S; Reuther J; Voicu H; Rednam SP; Lin FY; Fisher KE; Chintagumpala M; Adesina AM; Parsons DW; Plon SE; Roy A
Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31624068
[TBL] [Abstract][Full Text] [Related]
13. MUTYH and the mismatch repair system: partners in crime?
Niessen RC; Sijmons RH; Ou J; Olthof SG; Osinga J; Ligtenberg MJ; Hogervorst FB; Weiss MM; Tops CM; Hes FJ; de Bock GH; Buys CH; Kleibeuker JH; Hofstra RM
Hum Genet; 2006 Mar; 119(1-2):206-11. PubMed ID: 16408224
[TBL] [Abstract][Full Text] [Related]
14. Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer.
Kuno T; Matsubara N; Tsuda S; Kobayashi M; Hamanaka M; Yamagishi D; Tsukamoto K; Yamano T; Noda M; Ikeuchi H; Kim S; Tamura K; Tomita N
Oncol Rep; 2012 Aug; 28(2):473-80. PubMed ID: 22641385
[TBL] [Abstract][Full Text] [Related]
15. Germline
Rashed WM; Marcotte EL; Spector LG
JCO Precis Oncol; 2022 Jul; 6():e2100505. PubMed ID: 35820085
[TBL] [Abstract][Full Text] [Related]
16. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS; Thomas LE; Abascal F; Jung H; Harvey LMR; West HD; Olafsson S; Lee BCH; Coorens THH; Lee-Six H; Butlin L; Lander N; Truscott R; Sanders MA; Lensing SV; Buczacki SJA; Ten Hoopen R; Coleman N; Brunton-Sim R; Rushbrook S; Saeb-Parsy K; Lalloo F; Campbell PJ; Martincorena I; Sampson JR; Stratton MR
Nat Commun; 2022 Jul; 13(1):3949. PubMed ID: 35803914
[TBL] [Abstract][Full Text] [Related]
17. Multiple transmissions of de novo mutations in families.
Jónsson H; Sulem P; Arnadottir GA; Pálsson G; Eggertsson HP; Kristmundsdottir S; Zink F; Kehr B; Hjorleifsson KE; Jensson BÖ; Jonsdottir I; Marelsson SE; Gudjonsson SA; Gylfason A; Jonasdottir A; Jonasdottir A; Stacey SN; Magnusson OT; Thorsteinsdottir U; Masson G; Kong A; Halldorsson BV; Helgason A; Gudbjartsson DF; Stefansson K
Nat Genet; 2018 Dec; 50(12):1674-1680. PubMed ID: 30397338
[TBL] [Abstract][Full Text] [Related]
18. A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Gao F; Pan X; Dodd-Eaton EB; Recio CV; Montierth MD; Bojadzieva J; Mai PL; Zelley K; Johnson VE; Braun D; Nichols KE; Garber JE; Savage SA; Strong LC; Wang W
Genome Res; 2020 Aug; 30(8):1170-1180. PubMed ID: 32817165
[TBL] [Abstract][Full Text] [Related]
19. Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
Farrington SM; Tenesa A; Barnetson R; Wiltshire A; Prendergast J; Porteous M; Campbell H; Dunlop MG
Am J Hum Genet; 2005 Jul; 77(1):112-9. PubMed ID: 15931596
[TBL] [Abstract][Full Text] [Related]
20. Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Lejeune S; Guillemot F; Triboulet JP; Cattan S; Mouton C; ; Porchet N; Manouvrier S; Buisine MP
Hum Mutat; 2006 Oct; 27(10):1064. PubMed ID: 16941501
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
