Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L2368V
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BRCA2

NM_000059.4:p.L2368V

Associated Papers

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.

Matusin SNI et al.

Plos One, 2025

40531958 (PubMed )
Supplement: pone.0312635.s005.xlsx › Sheet1

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.

Wu Z et al.

Bmc Cancer, 2024

38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification

Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.

Biswas K et al.

Cell Reports Methods, 2023

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

Luo Y et al.

International Journal of General Medicine, 2022

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

34235180 (PubMed )
Supplement: Table3.XLSX › BRCA2

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.

Yost S et al.

Jnci Cancer Spectrum, 2019

31360904 (PubMed )
Supplement: supplementary_table_pkz028.zip › 20181104_Supplementary_Tables.xlsx › Supplementary_Table_2

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Fraile-Bethencourt E et al.

Frontiers in Genetics, 2019

31191615 (PubMed )
Supplement: Data_Sheet_1.PDF

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM12_ESM.xlsx › Sup._T9_-_GL_calls
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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."