Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1306fs
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BRCA1

NM_007294.4:p.L1306fs

Associated Papers

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.

Wu J et al.

Journal of Translational Medicine, 2025

41188832 (PubMed )
Supplement: 12967_2025_7068_MOESM2_ESM.xlsx › Sheet1

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

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.

Toss A et al.

Diagnostics (basel, Switzerland), 2021

Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

Ji G et al.

Annals of Translational Medicine, 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

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

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-s004.xlsx › BRCA1

Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.

Wang X et al.

Molecular Genetics & Genomic Medicine, 2019

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

Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

Kwong A et al.

Oncotarget, 2018

Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.

Zhao Q et al.

Journal of Gynecologic Oncology, 2017

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

Fernandes GC et al.

Oncotarget, 2016

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

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