Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2378*
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BRCA2

NM_000059.4:p.S2378*

Associated Papers

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

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

Combining rare and common genetic variants improves population risk stratification for breast cancer.

Bolze A et al.

Genetics in Medicine Open, 2024

39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

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

Biswas K et al.

Cell Reports Methods, 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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.

Wessman S et al.

Cancers, 2021

Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.

Ji G et al.

Journal of Cancer Research and Clinical Oncology, 2021

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Li H et al.

Journal of the National Cancer Institute, 2021

Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.

Liu Y et al.

Journal of Hematology & Oncology, 2021

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Shen L et al.

Frontiers in Oncology, 2021

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Molecular profile of BRCA-mutated biliary tract cancers.

Spizzo G et al.

Esmo Open, 2020

32576609 (PubMed )
Supplement: esmoopen-2020-000682supp001.pdf

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-s005.xlsx › dbBRCA2

[Ovarian cancer is in many ways a heterogeneous disease].

Malander S et al.

Lakartidningen, 2015

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Wong ES et al.

Plos One, 2015

26221963 (PubMed )
Supplement: pone.0134408.s004.xlsx › Sheet1

Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma.

Zhou B et al.

Cancer Biology & Therapy, 2012

22797009 (PubMed )
Supplement: supplement_1.zip › 2011CBT5411R-Sup.pdf

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation
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