MSH6 c.2972C>T ;(p.P991L)

Variant ID: 2-48028094-C-T

NM_000179.2(MSH6):c.2972C>T;(p.P991L)

This variant was identified in 7 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: 2972C>T; Pro991Leu; rs375966384
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11-13, 2022.

Familial Cancer
Publication Date: 2023-01-23

Variant appearance in text: MSH6: Pro991Leu
PubMed Link: 36690767
Variant Present in the following documents:
  • 10689_2022_Article_324.pdf
View BVdb publication page



InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MSH6: Pro991Leu
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13-15, 2021.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MSH6: Pro991Leu
PubMed Link: 35366121
Variant Present in the following documents:
  • Main text
  • 10689_2021_Article_284.pdf
View BVdb publication page



Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por
Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A
Publication Date: 2021

Variant appearance in text: MSH6: Pro991Leu
PubMed Link: 35002543
Variant Present in the following documents:
  • Main text
  • pore-27-1610013.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: 2972C>T; Pro991Leu; rs375966384
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: MSH6: 2972C>T; Pro991Leu
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM1_ESM.xlsx, sheet 1
  • 12920_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page