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3. Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy. Najdawi F; Crook A; Maidens J; McEvoy C; Fellowes A; Pickett J; Ho M; Nevell D; McIlroy K; Sheen A; Sioson L; Ahadi M; Turchini J; Clarkson A; Hogg R; Valmadre S; Gard G; Dooley SJ; Scott RJ; Fox SB; Field M; Gill AJ Pathology; 2017 Aug; 49(5):457-464. PubMed ID: 28669579 [TBL] [Abstract][Full Text] [Related]
4. MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing. Piñero TA; Soukarieh O; Rolain M; Alvarez K; López-Köstner F; Torrezan GT; Carraro DM; De Oliveira Nascimento IL; Bomfim TF; Machado-Lopes TMB; Freitas JC; Toralles MB; Sandes KA; Rossi BM; Junior SA; Meira J; Dominguez-Valentin M; Møller P; Vaccaro CA; Martins A; Pavicic WH Fam Cancer; 2020 Oct; 19(4):323-336. PubMed ID: 32363481 [TBL] [Abstract][Full Text] [Related]
5. Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. Boumehdi AL; Cherbal F; Khider F; Oukkal M; Mahfouf H; Zebboudj F; Maaoui M Ann Hum Genet; 2022 Nov; 86(6):328-352. PubMed ID: 36073783 [TBL] [Abstract][Full Text] [Related]
6. Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients. Kiyozumi Y; Matsubayashi H; Horiuchi Y; Higashigawa S; Oishi T; Abe M; Ohnami S; Urakami K; Nagashima T; Kusuhara M; Miyake H; Yamaguchi K Cancer Med; 2019 Sep; 8(12):5534-5543. PubMed ID: 31386297 [TBL] [Abstract][Full Text] [Related]
7. Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families. Li J; Ni H; Wang X; Cheng W; Li L; Cheng Y; Liu C; Li Y; Deng A World J Surg Oncol; 2024 Jan; 22(1):36. PubMed ID: 38280988 [TBL] [Abstract][Full Text] [Related]
8. Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients. Kato A; Sato N; Sugawara T; Takahashi K; Kito M; Makino K; Sato T; Shimizu D; Shirasawa H; Miura H; Sato W; Kumazawa Y; Sato A; Kumagai J; Terada Y Am J Surg Pathol; 2016 Jun; 40(6):770-6. PubMed ID: 26848797 [TBL] [Abstract][Full Text] [Related]
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10. Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. Rosty C; Clendenning M; Walsh MD; Eriksen SV; Southey MC; Winship IM; Macrae FA; Boussioutas A; Poplawski NK; Parry S; Arnold J; Young JP; Casey G; Haile RW; Gallinger S; Le Marchand L; Newcomb PA; Potter JD; DeRycke M; Lindor NM; Thibodeau SN; Baron JA; Win AK; Hopper JL; Jenkins MA; Buchanan DD; BMJ Open; 2016 Feb; 6(2):e010293. PubMed ID: 26895986 [TBL] [Abstract][Full Text] [Related]
11. Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China. Chao X; Li L; Wu M; Ma S; Tan X; Zhong S; Bi Y; Lang J Cancer Commun (Lond); 2019 Jul; 39(1):42. PubMed ID: 31307542 [TBL] [Abstract][Full Text] [Related]
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13. Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins. Jaballah-Gabteni A; Tounsi H; Kabbage M; Hamdi Y; Elouej S; Ben Ayed I; Medhioub M; Mahmoudi M; Dallali H; Yaiche H; Ben Jemii N; Maaloul A; Mezghani N; Abdelhak S; Hamzaoui L; Azzouz M; Boubaker S J Transl Med; 2019 Jun; 17(1):212. PubMed ID: 31248416 [TBL] [Abstract][Full Text] [Related]
14. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome. Helderman NC; Andini KD; van Leerdam ME; van Hest LP; Hoekman DR; Ahadova A; Bajwa-Ten Broeke SW; Bosse T; van der Logt EMJ; Imhann F; Kloor M; Langers AMJ; Smit VTHBM; Terlouw D; van Wezel T; Morreau H; Nielsen M J Mol Diagn; 2024 Feb; 26(2):106-114. PubMed ID: 38061582 [TBL] [Abstract][Full Text] [Related]
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