Publications:

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: Lys301Asn

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

International Journal Of Cancer

Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,

Publication Date: 2020-10-15

Variant appearance in text: MSH6: 903G>T

PubMed Link: 32510614

Variant Present in the following documents:

• IJC-147-2150-s001.pdf

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Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

Plos One

Martin-Morales, Lorena L; Rofes, Paula P; Diaz-Rubio, Eduardo E; Llovet, Patricia P; Lorca, Victor V; Bando, Inmaculada I; Perez-Segura, Pedro P; de la Hoya, Miguel M; Garre, Pilar P; Garcia-Barberan, Vanesa V; Caldes, Trinidad T

Publication Date: 2018

Variant appearance in text: MSH6: 903G>T; K301N

PubMed Link: 30256826

Variant Present in the following documents:

• pone.0203885.pdf

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: MSH6: K301N

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 13

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