MSH2 c.160_161delinsTT ;(p.A54F)

Variant ID: 2-47630490-GC-TT

NM_000251.2(MSH2):c.160_161delinsTT;(p.A54F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Somatic mutations in benign breast disease tissues and association with breast cancer risk.

Bmc Medical Genomics
Winham, Stacey J SJ; Wang, Chen C; Heinzen, Ethan P EP; Bhagwate, Aditya A; Liu, Yuanhang Y; McDonough, Samantha J SJ; Stallings-Mann, Melody L ML; Frost, Marlene H MH; Vierkant, Robert A RA; Denison, Lori A LA; Carter, Jodi M JM; Sherman, Mark E ME; Radisky, Derek C DC; Degnim, Amy C AC; Cunningham, Julie M JM
Publication Date: 2021-07-14

Variant appearance in text: MSH2: A54F
PubMed Link: 34261476
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with unexplained mismatch repair deficiency are interested in updated genetic testing.

Hereditary Cancer In Clinical Practice
Omark, Jessica J; Vilar, Eduardo E; You, Y Nancy YN; Dunnington, Leslie L; Noblin, Sarah S; Stevens, Blair B; Mork, Maureen M
Publication Date: 2020

Variant appearance in text: MSH2: A54F
PubMed Link: 32973963
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: A54F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page