Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1217fs
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BRCA1

NM_007294.4:p.S1217fs

Associated Papers

The breakome of BRCA1 and BRCA2 pathway mutation carriers reveals early processes in breast oncogenesis.

Oster Flayshman S et al.

Cell Death & Disease, 2025

41350536 (PubMed )
Supplement: 41419_2025_8235_MOESM1_ESM.zip › Supplementary_material › Table_1-_CoH_strain_info__revised_.xlsx › Sheet1

Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.

Pitiyarachchi O et al.

Translational Oncology, 2023

36805919 (PubMed )
Supplement: mmc1.docx

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Latino_only

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.

Garcia-Casado Z et al.

Journal of Personalized Medicine, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Sirtuin inhibition is synthetic lethal with BRCA1 or BRCA2 deficiency.

Bajrami I et al.

Communications Biology, 2021

34750509 (PubMed )
Supplement: 42003_2021_2770_MOESM9_ESM.xlsx › Fig_S13

Evidence for accelerated aging in mammary epithelia of women carrying germline BRCA1 or BRCA2 mutations.

Shalabi SF et al.

Nature Aging, 2021

35187501 (PubMed )
Supplement: NIHMS1772753-supplement-Supplementary_Tables_1_12.xlsx › Table_S1

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K et al.

Jama Network Open, 2018

30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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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."