Llargues-Sistac G, Bonjoch L, Munoz J, Dominguez-Rovira X, Ocana T, Alvarez-Mora M
NPJ Genom Med. 2025; 10(1):3.
PMID: 39821083
PMC: 11739559.
DOI: 10.1038/s41525-025-00462-y.
Hryhorowicz S, Kaczmarek-Rys M, Lis-Tanas E, Porowski J, Szuman M, Grot N
Genes (Basel). 2022; 13(12).
PMID: 36553592
PMC: 9777620.
DOI: 10.3390/genes13122326.
Dong L, Zou S, Jin X, Lu H, Zhang Y, Guo L
Front Oncol. 2021; 11:627460.
PMID: 34055602
PMC: 8162378.
DOI: 10.3389/fonc.2021.627460.
Kochan D, Winkler E, Lindor N, Shaibi G, Olson J, Caraballo P
NPJ Genom Med. 2020; 5:19.
PMID: 32377377
PMC: 7198538.
DOI: 10.1038/s41525-020-0127-2.
Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R
Cancers (Basel). 2019; 11(9).
PMID: 31514334
PMC: 6769562.
DOI: 10.3390/cancers11091340.
Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer.
Boru G, Grosel T, Pilarski R, Stautberg M, Massengill J, Jeter J
Genes Chromosomes Cancer. 2019; 58(9):650-656.
PMID: 30883995
PMC: 6612571.
DOI: 10.1002/gcc.22752.
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.
Zhang Z, Liang S, Huang H, Wang D, Zhang X, Wu J
Oncotarget. 2016; 7(31):50392-50400.
PMID: 27391059
PMC: 5226590.
DOI: 10.18632/oncotarget.10408.
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.
Yamaguchi K, Nagayama S, Shimizu E, Komura M, Yamaguchi R, Shibuya T
Sci Rep. 2016; 6:26011.
PMID: 27217144
PMC: 4877598.
DOI: 10.1038/srep26011.
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W, McPhillips M, Scott R, Talseth-Palmer B
Mol Genet Genomic Med. 2016; 4(2):223-31.
PMID: 27064304
PMC: 4799874.
DOI: 10.1002/mgg3.198.
Mouse models for the discovery of colorectal cancer driver genes.
Clark C, Starr T
World J Gastroenterol. 2016; 22(2):815-22.
PMID: 26811627
PMC: 4716079.
DOI: 10.3748/wjg.v22.i2.815.
Milestones of Lynch syndrome: 1895-2015.
Lynch H, Snyder C, Shaw T, Heinen C, Hitchins M
Nat Rev Cancer. 2015; 15(3):181-94.
PMID: 25673086
DOI: 10.1038/nrc3878.
Identification of rare germline copy number variations over-represented in five human cancer types.
Park R, Kim T, Kasif S, Park P
Mol Cancer. 2015; 14:25.
PMID: 25644941
PMC: 4381456.
DOI: 10.1186/s12943-015-0292-6.
Genetic predisposition to colorectal cancer: where we stand and future perspectives.
Valle L
World J Gastroenterol. 2014; 20(29):9828-49.
PMID: 25110415
PMC: 4123366.
DOI: 10.3748/wjg.v20.i29.9828.
Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.
Romero A, Garre P, Valentin O, Sanz J, Perez-Segura P, Llovet P
PLoS One. 2013; 8(9):e72195.
PMID: 24039744
PMC: 3770653.
DOI: 10.1371/journal.pone.0072195.
Lynch Syndrome in high risk Ashkenazi Jews in Israel.
Goldberg Y, Kedar I, Kariiv R, Halpern N, Plesser M, Hubert A
Fam Cancer. 2013; 13(1):65-73.
PMID: 23990280
DOI: 10.1007/s10689-013-9675-2.
The history of Lynch syndrome.
Boland C, Lynch H
Fam Cancer. 2013; 12(2):145-57.
PMID: 23546821
PMC: 3720817.
DOI: 10.1007/s10689-013-9637-8.
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
Li D, Hu F, Wang F, Cui B, Dong X, Zhang W
PLoS One. 2013; 8(3):e51240.
PMID: 23526924
PMC: 3602519.
DOI: 10.1371/journal.pone.0051240.
The mystery of mismatch repair deficiency: lynch or lynch-like?.
Boland C
Gastroenterology. 2013; 144(5):868-70.
PMID: 23523847
PMC: 3647610.
DOI: 10.1053/j.gastro.2013.03.014.
Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion.
Duraturo F, Cavallo A, Liccardo R, Cudia B, De Rosa M, Diana G
Biomed Res Int. 2013; 2013:219897.
PMID: 23484096
PMC: 3591251.
DOI: 10.1155/2013/219897.
Anticipation in lynch syndrome: where we are where we go.
Bozzao C, Lastella P, Stella A
Curr Genomics. 2012; 12(7):451-65.
PMID: 22547953
PMC: 3219841.
DOI: 10.2174/138920211797904070.