MSH6 c.2945del ;(p.P982Lfs*15)

Variant ID: 2-48028065-TC-T

NM_000179.2(MSH6):c.2945del;(p.P982Lfs*15)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.

Cancers
Evans, D Gareth DG; van Veen, Elke M EM; Woodward, Emma R ER; Harkness, Elaine F EF; Ellingford, Jamie M JM; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ
Publication Date: 2021-08-18

Variant appearance in text: MSH6: 2945delC; Pro982Leufs
PubMed Link: 34439310
Variant Present in the following documents:
  • Main text
  • cancers-13-04154.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: 2945delC; Pro982Leufs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Errors in Discussion Text and Table 1.

Jama Oncology
Publication Date: 2019-01-01

Variant appearance in text: MSH6: 2945delC
PubMed Link: 30629134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Jama Oncology
Lu, Hsiao-Mei HM; Li, Shuwei S; Black, Mary Helen MH; Lee, Shela S; Hoiness, Robert R; Wu, Sitao S; Mu, Wenbo W; Huether, Robert R; Chen, Jefferey J; Sridhar, Srijani S; Tian, Yuan Y; McFarland, Rachel R; Dolinsky, Jill J; Tippin Davis, Brigette B; Mexal, Sharon S; Dunlop, Charles C; Elliott, Aaron A
Publication Date: 2019-01-01

Variant appearance in text: MSH6: 2945delC
PubMed Link: 30128536
Variant Present in the following documents:
  • Main text
View BVdb publication page