Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K437fs
Back to variants list

BRCA2

NM_000059.4:p.K437fs

Associated Papers

Hereditary ovarian cancer in women with African ancestry: a scoping review.

Rossouw B et al.

Familial Cancer, 2026

Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.

Cardona DS et al.

Cancer Epidemiology, 2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy.

Oh JH et al.

Journal of Pathology and Translational Medicine, 2023

37981726 (PubMed )
Supplement: jptm-2023-10-22-Supplementary-Table-S1.pdf

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

Bouras A et al.

Cancers, 2023

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-s006.xlsx › BRCA2

Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.

Ferreyra Y et al.

Frontiers in Oncology, 2023

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

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

Bang YJ et al.

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 › BRCA2

Germline pathogenic variants in unselected Korean men with prostate cancer.

So MK et al.

Investigative and Clinical Urology, 2022

35534218 (PubMed )
Supplement: icu-63-294-s001.xls › Sheet1

Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.

Mur P et al.

European Journal of Human Genetics : Ejhg, 2022

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM4_ESM.xlsx › Sheet1

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

Shui L et al.

Journal of Translational Medicine, 2021

Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.

Lovejoy LA et al.

Familial Cancer, 2021

Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.

Bertucci F et al.

Genome Medicine, 2021

34006291 (PubMed )
Supplement: 13073_2021_897_MOESM3_ESM.xlsx › Table_S6

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_S4

Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.

Ben Ayed-Guerfali D et al.

Journal of Translational Medicine, 2021

Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

Sandoval RL et al.

Plos One, 2021

Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.

Hamdi Y et al.

Frontiers in Genetics, 2021

Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Laraqui A et al.

Journal of Genomics, 2021

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

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

Park S et al.

Molecular Cancer Research : Mcr, 2020

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

De Talhouet S et al.

Scientific Reports, 2020

32341426 (PubMed )
Supplement: 41598_2020_63759_MOESM1_ESM.pdf

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

Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Diop JPD et al.

Bmc Medical Genetics, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

Belaiba F et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2018

Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Wei H et al.

Oncology Letters, 2018

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.

Hahnen E et al.

Jama Oncology, 2017

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C et al.

Archives of Gynecology and Obstetrics, 2017

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I et al.

Experimental and Molecular Pathology, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

Sakai E et al.

International Journal of Cancer, 2016

26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf

Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Wojcik P et al.

Hereditary Cancer in Clinical Practice, 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

BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.

El Saghir NS et al.

The Oncologist, 2015

1–50 of 54 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."