Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N1288_K1289delFs
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BRCA2

NM_000059.4:p.N1288_K1289delFs

Associated Papers

Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.

Osler TS et al.

Cancer Medicine, 2025

40042150 (PubMed )
Supplement: CAM4-14-e70743-s001.docx

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.

Freire MV et al.

Journal of Personalized Medicine, 2024

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

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue.

van Wijk LM et al.

Breast Cancer Research and Treatment, 2023

37725154 (PubMed )
Supplement: 10549_2023_7102_MOESM1_ESM.pdf

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

Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.

Cioffi A et al.

Cancers, 2023

36612302 (PubMed )
Supplement: cancers-15-00306-s001.zip › cancers-2084904-supplementary.pdf

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Karalidou V et al.

Biomolecules, 2022

36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Lertwilaiwittaya P et al.

Breast Cancer Research and Treatment, 2021

[Heredity and cancer].

Docampo E et al.

Revue Medicale De Liege, 2021

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

George SHL et al.

Jama Network Open, 2021

33646313 (PubMed )
Supplement: jamanetwopen-e210307-s001.pdf

Pan-cancer landscape of homologous recombination deficiency.

Nguyen L et al.

Nature Communications, 2020

33149131 (PubMed )
Supplement: 41467_2020_19406_MOESM7_ESM.xlsx › hgvs_c

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

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

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

Spectrum of TP53 Mutations in BRCA1/2 Associated High-Grade Serous Ovarian Cancer.

Boyarskikh UA et al.

Frontiers in Oncology, 2020

32766142 (PubMed )
Supplement: Table_2.XLSX › list_of_BRCA_mutations

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-s006.xlsx › BRCA2_ethnic_sources_

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I et al.

Bmc Cancer, 2019

31395037 (PubMed )
Supplement: 12885_2019_5946_MOESM5_ESM.xlsx › Tabelle1

Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations.

Kechin AA et al.

Bulletin of Experimental Biology and Medicine, 2018

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Wen WX et al.

Journal of Medical Genetics, 2018

28993434 (PubMed )
Supplement: jmedgenet-2017-104947supp001.pdf

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

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

A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

Becker AA et al.

Breast Cancer Research and Treatment, 2012

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

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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."