BRCA2 c.8187G>A ;(p.K2729=)

Variant ID: 13-32937526-G-A

NM_000059.3(BRCA2):c.8187G>A;(p.K2729=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs80359065
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



The Progress of the Specific and Rapid Genetic Detection Methods for Ovarian Cancer Diagnosis and Treatment.

Technology In Cancer Research & Treatment
Dong, Kejun K; Zhang, Wei W; Cheng, Shuangshuang S; Shu, Wan W; Zhao, Rong R; Wang, Hongbo H
Publication Date: 2022

Variant appearance in text: rs80359065
PubMed Link: 36062718
Variant Present in the following documents:
  • Main text
  • 10.1177_15330338221114497.pdf
View BVdb publication page



Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.

Acs Omega
Shinde, Sangita Dattatray SD; Satpute, Dinesh Parshuram DP; Behera, Santosh Kumar SK; Kumar, Dinesh D
Publication Date: 2022-08-30

Variant appearance in text: rs80359065
PubMed Link: 36061650
Variant Present in the following documents:
  • ao2c03851_si_001.pdf
View BVdb publication page



Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09

Variant appearance in text: BRCA2: 8187G>A; Lys2729=
PubMed Link: 34749799
Variant Present in the following documents:
  • 13073_2021_976_MOESM1_ESM.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: rs80359065
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs80359065
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
View BVdb publication page



Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing.

Cancer Biology & Therapy
Heczkova, Marie M; Machackova, Eva E; Macinga, Peter P; Gallmeier, Eike E; Cahova, Monika M; Spicak, Julius J; Jirsa, Milan M; Foretova, Lenka L; Hucl, Tomas T
Publication Date: 2019

Variant appearance in text: rs80359065
PubMed Link: 30638113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs80359065
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page