Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1795_S1796insFs
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BRCA1

NM_007294.4:p.L1795_S1796insFs

Associated Papers

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.

Vatsyayan A et al.

Cancer Causes & Control : Ccc, 2025

Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.

Perletti G et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Tuncer SB et al.

Pathology, Research and Practice, 2024

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.

Oubaddou Y et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis.

Feng Z et al.

Bmc Cancer, 2023

Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications.

Zhao Z et al.

Cancer Medicine, 2023

Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.

Abdallah N et al.

Cancer Causes & Control : Ccc, 2023

Contribution of BRCA1 5382insC mutation to triplene-gative and luminal types of breast cancer in Ukraine.

Samusieva A et al.

Breast Cancer Research and Treatment, 2022

Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.

Zhang J et al.

Frontiers in Oncology, 2022

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Sekine M et al.

Genes, 2021

Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Dobbin EAF et al.

Genes, 2021

Risk of colorectal cancer associated with BRCA1 and/or BRCA2 mutation carriers: systematic review and meta-analysis.

Cullinane CM et al.

The British Journal of Surgery, 2020

Efficacy of platinum in advanced triple-negative breast cancer with germline BRCA mutation determined by next generation sequencing.

Wang N et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

BRCA Mutation and Its Association With Colorectal Cancer.

Soyano AE et al.

Clinical Colorectal Cancer, 2018

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Lowery MA et al.

Journal of the National Cancer Institute, 2018

Phase 1 trial evaluating cisplatin, gemcitabine, and veliparib in 2 patient cohorts: Germline BRCA mutation carriers and wild-type BRCA pancreatic ductal adenocarcinoma.

O'Reilly EM et al.

Cancer, 2018

Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.

Gorodetska I et al.

Familial Cancer, 2017

Primer in Genetics and Genomics, Article 5-Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype-Phenotype Associations.

Wright F et al.

Biological Research for Nursing, 2017

Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance.

Afghahi A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

A patient-derived-xenograft platform to study BRCA-deficient ovarian cancers.

George E et al.

Jci Insight, 2017

Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.

Cobain EF et al.

Seminars in Oncology, 2016

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

Alemar B et al.

Cancer Genetics, 2016

Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

Catts ZA et al.

Annals of Surgical Oncology, 2016

Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.

Scalia-Wilbur J et al.

Seminars in Radiation Oncology, 2016

Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.

Henouda S et al.

Disease Markers, 2016

Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets.

Brastianos PK et al.

Cancer Discovery, 2015

Suppression of Homologous Recombination by insulin-like growth factor-1 inhibition sensitizes cancer cells to PARP inhibitors.

Amin O et al.

Bmc Cancer, 2015

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence.

Sedic M et al.

Nature Communications, 2015

Genetic tests to identify risk for breast cancer.

Lynch JA et al.

Seminars in Oncology Nursing, 2015

Hereditary breast cancer syndromes and genetic testing.

Rich TA et al.

Journal of Surgical Oncology, 2015

Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

Rosenthal E et al.

Breast Cancer Research and Treatment, 2015

Effects of Radiation Therapy on Breast Epithelial Cells in BRCA1/2 Mutation Carriers.

Chiang HC et al.

Breast Cancer : Basic and Clinical Research, 2015

The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine.

Gorodetska I et al.

Hereditary Cancer in Clinical Practice, 2015

BRCA1 germline mutations may be associated with reduced ovarian reserve.

Wang ET et al.

Fertility and Sterility, 2014

The performance of BRCA1 immunohistochemistry for detecting germline, somatic, and epigenetic BRCA1 loss in high-grade serous ovarian cancer.

Meisel JL et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2014

BRCA1 haploinsufficiency for replication stress suppression in primary cells.

Pathania S et al.

Nature Communications, 2014

Linking distant relatives with BRCA gene mutations: potential for cost savings.

Senter L et al.

Clinical Genetics, 2014

Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study.

Sharma S et al.

International Journal of Biochemistry and Molecular Biology, 2014

Activating ESR1 mutations in hormone-resistant metastatic breast cancer.

Robinson DR et al.

Nature Genetics, 2013

Large genomic rearrangements in BRCA1 and BRCA2: implications for patient care.

Mahon SM

Oncology Nursing Forum, 2013

An unusual BRCA mutation distribution in a high risk cancer genetics clinic.

Nelson-Moseke AC et al.

Familial Cancer, 2013

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

Karami F et al.

Biomed Research International, 2013

Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.

Oluwagbemiga LA et al.

Springerplus, 2012

Clinical significance of large rearrangements in BRCA1 and BRCA2.

Judkins T et al.

Cancer, 2012

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Finkelman BS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2012

Translational advances regarding hereditary breast cancer syndromes.

Gage M et al.

Journal of Surgical Oncology, 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."