Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1221P
Back to variants list

BRCA2

NM_000059.4:p.S1221P

Associated Papers

BRCA2 and NF2-Mutated High-Grade Renal Cell Carcinoma: A Case Report and Literature Review.

Talafha MM et al.

International Journal of Surgical Pathology, 2026

A single BRCA2 BRC repeat supports viability while multiple repeats ensure resilience under stress.

Mishra AP et al.

Biorxiv : the Preprint Server for Biology, 2026

Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication.

Ito M et al.

Dna Repair, 2024

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

Biswas K et al.

Cell Reports Methods, 2023

BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair.

Jimenez-Sainz J et al.

Elife, 2022

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

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP

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

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

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

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

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

Cancer-associated mutations in BRC domains of BRCA2 affect homologous recombination induced by Rad51.

Tal A et al.

Journal of Molecular Biology, 2009

Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2.

Esashi F et al.

Nature Structural & Molecular Biology, 2007

Sequence fingerprints in BRCA2 and RAD51: implications for DNA repair and cancer.

Lo T et al.

Dna Repair, 2003

Medical implications of DNA repair.

Yarosh DB

Cutis, 2003

Insights into DNA recombination from the structure of a RAD51-BRCA2 complex.

Pellegrini L et al.

Nature, 2002

Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer.

Li Y et al.

Human Mutation, 2002

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."