Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q172fs
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BRCA1

NM_007294.4:p.Q172fs

Associated Papers

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › TCGA_n_569_

Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.

Lila K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

39733403 (PubMed )
Supplement: APJCP-25-4145-s001.xlsx › Supplementry_Table_1

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

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.

Herold N et al.

Cancer Medicine, 2023

37345881 (PubMed )
Supplement: CAM4-12-15256-s001.xlsx › Table_S1

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-s002.xlsx › BRCA1

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM3_ESM.xlsx › PrimaryRecurrent_cohort_tumors

Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.

Ruangapirom L et al.

Vaccines, 2022

36298462 (PubMed )
Supplement: vaccines-10-01597-s001.zip › vaccines-1858387-supplementary.pdf

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Stella S et al.

Cancer Management and Research, 2022

Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Azribi F et al.

Bmc Cancer, 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

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

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

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 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

Shi T et al.

International Journal of Cancer, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC et al.

The Journal of Molecular Diagnostics : Jmd, 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."