Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S694insFs
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BRCA1

NM_007294.4:p.S694insFs

Associated Papers

Genetically driven predisposition leads to an unusually genomic unstable renal cell carcinoma.

Scimeca M et al.

Discover Oncology, 2024

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-s004.xlsx › List

Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country.

Vohra LM et al.

International Journal of Surgery Case Reports, 2022

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.

Wessman S et al.

Cancers, 2021

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.

Behl S et al.

Scientific Reports, 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

Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.

Rashid MU et al.

Hereditary Cancer in Clinical Practice, 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

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

27073839 (PubMed )
Supplement: pone.0152725.s003.xlsx › Sheet1

Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan.

Aziz F et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

[Ovarian cancer is in many ways a heterogeneous disease].

Malander S et al.

Lakartidningen, 2015

A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

Belanger MH et al.

Journal of Ovarian Research, 2015

The role of BRCA1 and BRCA2 in prostate cancer.

Li D et al.

Frontiers in Bioscience (landmark Edition), 2013

Epidemiology, major risk factors and genetic predisposition for breast cancer in the Pakistani population.

Shaukat U et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

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

Karami F et al.

Biomed Research International, 2013

Germline BRCA1 mutations increase prostate cancer risk.

Leongamornlert D et al.

British Journal of Cancer, 2012

Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.

Rashid MU et al.

Familial Cancer, 2011

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

Farooq A et al.

Journal of Oncology, 2011

BRCA1 2080insA mutation in familial breast cancer.

Alansari AS et al.

Breast Cancer Research and Treatment, 2009

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N et al.

Plos Genetics, 2008

18497862 (PubMed )
Supplement: pgen.1000080.s002.xls › Sheet1

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Ramus SJ et al.

Human Mutation, 2007

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.

Lovelock PK et al.

Breast Cancer Research and Treatment, 2007

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

Simard J et al.

Journal of Medical Genetics, 2007

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families.

Moisan AM et al.

Genetic Testing, 2006

Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families.

Lindeman GJ et al.

Breast Cancer Research : Bcr, 2004

BRCA1 mutations.

DiCioccio RA et al.

Genes, Chromosomes & Cancer, 2003

Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.

Liede A et al.

Human Mutation, 2002

Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer.

Jongsma AP et al.

Molecular Pathology : Mp, 2002

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

Liede A et al.

American Journal of Human Genetics, 2002

BRCA1 mutation update and analysis.

Grade K et al.

Journal of Cancer Research and Clinical Oncology, 1996

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