MSH6 c.651dup ;(p.K218*)

Variant ID: 2-48025772-A-AT

NM_000179.2(MSH6):c.651dup;(p.K218*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH6: Lys218Ter; rs63750955
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31

Variant appearance in text: MSH6: 651dup; Lys218*
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.

Hemasphere
Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC
Publication Date: 2022-01

Variant appearance in text: MSH6: 651dup; Lys218*
PubMed Link: 34964038
Variant Present in the following documents:
  • Main text
  • hs9-6-e668.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 651dupT; Lys218Terfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MSH6: 651dupT; Lys218fs; rs63750955
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.

Frontiers In Immunology
IJspeert, Hanna H; van Schouwenburg, Pauline A PA; Pico-Knijnenburg, Ingrid I; Loeffen, Jan J; Brugieres, Laurence L; Driessen, Gertjan J GJ; Blattmann, Claudia C; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Seidel, Marcus G MG; Jacobs, Heinz H; van der Burg, Mirjam M
Publication Date: 2019

Variant appearance in text: MSH6: 651dupT; K218X
PubMed Link: 31507588
Variant Present in the following documents:
  • Main text
  • fimmu-10-01913.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 651dupT
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hereditary Cancer In Clinical Practice
Gardner, Sabrina A SA; Weymouth, Katelyn S KS; Kelly, Wei S WS; Bogdanova, Ekaterina E; Chen, Wenjie W; Lupu, Daniel D; Suhl, Joshua J; Zeng, Qiandong Q; Geigenmüller, Ute U; Boles, Debbie D; Okamoto, Patricia M PM; McDowell, Geraldine G; Hayden, Melissa A MA; Nagan, Narasimhan N
Publication Date: 2018

Variant appearance in text: MSH6: 651dupT; Lys218*
PubMed Link: 29308099
Variant Present in the following documents:
  • 13053_2017_83_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 651dupT; Lys218Terfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

British Journal Of Cancer
You, J-F JF; Buhard, O O; Ligtenberg, M J L MJ; Kets, C M CM; Niessen, R C RC; Hofstra, R M W RM; Wagner, A A; Dinjens, W N M WN; Colas, C C; Lascols, O O; Collura, A A; Flejou, J-F JF; Duval, A A; Hamelin, R R
Publication Date: 2010-12-07

Variant appearance in text: MSH6: 651dup; Lys218X
PubMed Link: 21081928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

Journal Of Medical Genetics
van der Post, R S RS; Kiemeney, L A LA; Ligtenberg, M J L MJ; Witjes, J A JA; Hulsbergen-van de Kaa, C A CA; Bodmer, D D; Schaap, L L; Kets, C M CM; van Krieken, J H J M JH; Hoogerbrugge, N N
Publication Date: 2010-07

Variant appearance in text: MSH6: 651dup; Lys218X
PubMed Link: 20591884
Variant Present in the following documents:
  • Main text
  • jmedgenet76992.pdf
View BVdb publication page



Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Journal Of The National Cancer Institute
Baglietto, Laura L; Lindor, Noralane M NM; Dowty, James G JG; White, Darren M DM; Wagner, Anja A; Gomez Garcia, Encarna B EB; Vriends, Annette H J T AH; , ; Cartwright, Nicola R NR; Barnetson, Rebecca A RA; Farrington, Susan M SM; Tenesa, Albert A; Hampel, Heather H; Buchanan, Daniel D; Arnold, Sven S; Young, Joanne J; Walsh, Michael D MD; Jass, Jeremy J; Macrae, Finlay F; Antill, Yoland Y; Winship, Ingrid M IM; Giles, Graham G GG; Goldblatt, Jack J; Parry, Susan S; Suthers, Graeme G; Leggett, Barbara B; Butz, Malinda M; Aronson, Melyssa M; Poynter, Jenny N JN; Baron, John A JA; Le Marchand, Loic L; Haile, Robert R; Gallinger, Steve S; Hopper, John L JL; Potter, John J; de la Chapelle, Albert A; Vasen, Hans F HF; Dunlop, Malcolm G MG; Thibodeau, Stephen N SN; Jenkins, Mark A MA
Publication Date: 2010-02-03

Variant appearance in text: MSH6: 651_652insT
PubMed Link: 20028993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21

Variant appearance in text: MSH6: 651dup; Lys218X
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
View BVdb publication page



Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

British Journal Of Cancer
Kets, C M CM; van Krieken, J H J M JH; Hebeda, K M KM; Wezenberg, S J SJ; Goossens, M M; Brunner, H G HG; Ligtenberg, M J L MJ; Hoogerbrugge, N N
Publication Date: 2006-12-18

Variant appearance in text: MSH6: 651dup; Lys218X
PubMed Link: 17117178
Variant Present in the following documents:
  • Main text
  • 95-6603478a.pdf
View BVdb publication page



Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Jama
Casey, Graham G; Lindor, Noralane M NM; Papadopoulos, Nickolas N; Thibodeau, Stephen N SN; Moskow, John J; Steelman, Scott S; Buzin, Carolyn H CH; Sommer, Steve S SS; Collins, Christine E CE; Butz, Malinda M; Aronson, Melyssa M; Gallinger, Steven S; Barker, Melissa A MA; Young, Joanne P JP; Jass, Jeremy R JR; Hopper, John L JL; Diep, Anh A; Bapat, Bharati B; Salem, Michael M; Seminara, Daniela D; Haile, Robert R; ,
Publication Date: 2005-02-16

Variant appearance in text: MSH6: K218Xfs
PubMed Link: 15713769
Variant Present in the following documents:
  • Main text
View BVdb publication page