BARD1 c.2279C>T ;(p.S760L)

Variant ID: 2-215593455-G-A

NM_000465.2(BARD1):c.2279C>T;(p.S760L)

This variant was identified in 5 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: BARD1: 2279C>T; Ser760Leu; rs730881425
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: BARD1: 2279C>T; Ser760Leu; rs730881425
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: rs730881425
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
View BVdb publication page



Transient overexpression of exogenous APOBEC3A causes C-to-U RNA editing of thousands of genes.

Rna Biology
Sharma, Shraddha S; Patnaik, Santosh K SK; Kemer, Zeynep Z; Baysal, Bora E BE
Publication Date: 2017-05-04

Variant appearance in text: BARD1: S760L
PubMed Link: 27149507
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics
Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV
Publication Date: 2016-06

Variant appearance in text: BARD1: 2279C>T; S760L
PubMed Link: 26787654
Variant Present in the following documents:
  • jmedgenet-2015-103398-s2.pdf
View BVdb publication page