Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N909fs
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BRCA1

NM_007294.4:p.N909fs

Associated Papers

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.

Tibiletti MG et al.

Tumori, 2024

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.

Schwartz M et al.

Clinical Genetics, 2023

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-s006.xlsx › BRCA1

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 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

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.

Azzollini J et al.

Frontiers in Oncology, 2022

35463374 (PubMed )
Supplement: Table_2.xlsx › BRCA_PVs

Response to everolimus in a patient with refractory HGBL-NOS harboring multiple genomic aberrations in PTEN.

Caldwell I et al.

Leukemia & Lymphoma, 2021

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table

Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.

Sim WC et al.

Experimental and Molecular Pathology, 2020

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ et al.

Oncotarget, 2018

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI et al.

Scientific Reports, 2018

29907814 (PubMed )
Supplement: 41598_2018_27315_MOESM1_ESM.xlsx › Sup_Table_S1_-_BRCA1

BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Heramb C et al.

Hereditary Cancer in Clinical Practice, 2018

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

Alemar B et al.

Cancer Genetics, 2016

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.

Hasmad HN et al.

Gynecologic Oncology, 2016

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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."