Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L785*
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BRCA1

NM_007294.4:p.L785*

Associated Papers

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

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

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

Pathological findings and long-term prognosis in Korean BRCA1/2 mutation carriers undergoing risk-reducing salpingo-oophorectomy.

Kang OJ et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2023

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Kim Y et al.

Human Genetics, 2023

37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1

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-s005.xlsx › Chinese

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

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

Bang YJ et al.

Cancer Research and Treatment, 2022

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Paik ES et al.

Cancer Science, 2021

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

Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Ha HI et al.

Journal of Gynecologic Oncology, 2020

33078592 (PubMed )
Supplement: jgo-31-e83-s007.xls › jgo-31-e83-s007

Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.

Park S et al.

Molecular Cancer Research : Mcr, 2020

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

Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy.

Kim B et al.

Plos One, 2019

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

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

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Shin S et al.

Oncotarget, 2017

28422718 (PubMed )
Supplement: oncotarget-08-34858-s002.xlsx › Table_1

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Park B et al.

Breast Cancer Research and Treatment, 2017

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

Shin S et al.

Breast Cancer Research and Treatment, 2016

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

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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."