Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E368*
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BRCA1

NM_007294.4:p.E368*

Associated Papers

Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.

Houlahan KE et al.

Ebiomedicine, 2026

41724111 (PubMed )
Supplement: mmc6.xlsx › Sheet2

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S2

Deletions Rate-Limit Breast and Ovarian Cancer Initiation.

Houlahan KE et al.

Biorxiv : the Preprint Server for Biology, 2024

39484366 (PubMed )
Supplement: media-4.xlsx › Sheet2

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 › MNS_only

The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo.

Kostovska IM et al.

Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022

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

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-s006.xlsx › Total_BRCA1___BRCA2

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

Jakimovska M et al.

Breast Cancer Research and Treatment, 2018

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC et al.

European Journal of Human Genetics : Ejhg, 2017

28145423 (PubMed )
Supplement: ejhg2016203x2.xls › Genotype_Phenotype_data

BRCA1/2 and clinical outcome in a monoinstitutional cohort of women with hereditary breast cancer.

Sambiasi D et al.

Oncology Reports, 2014

Genetic variation of the brca1 and brca2 genes in macedonian patients.

Maleva I et al.

Balkan Journal of Medical Genetics : Bjmg, 2012

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

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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."