Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1418*
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BRCA1

NM_007294.4:p.L1418*

Associated Papers

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 › Asian_MNS_both

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Bang YJ et al.

Cancer Research and Treatment, 2022

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC et al.

Breast Cancer Research and Treatment, 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_TableS2.xlsx › BRCA1

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S3

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-s007.xlsx › Asian

Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.

Kim SI et al.

Journal of Ovarian Research, 2019

31064392 (PubMed )
Supplement: 13048_2019_511_MOESM1_ESM.zip › New_Supplementary_Files.pdf

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

Kim DH et al.

Journal of Gynecologic Oncology, 2018

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS et al.

Cancer Research and Treatment, 2017

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.

Keshavarzi F et al.

Familial Cancer, 2012

Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.

Keshavarzi F et al.

Iranian Journal of Public Health, 2011

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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."