Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L596L
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BRCA1

NM_007294.4:p.L596L

Associated Papers

Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.

Villy MC et al.

Gynecologic Oncology Reports, 2021

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › Total_BRCA1___BRCA2

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s020.xlsx › Figure.2.Drivers.Edited
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."