Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K944*
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BRCA2

NM_000059.4:p.K944*

Associated Papers

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

Mariya T et al.

Human Genome Variation, 2026

41565638 (PubMed )
Supplement: 41439_2026_335_MOESM2_ESM.xlsx › SupplementaryTable2

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Brand F et al.

Acta Neuropathologica, 2026

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.

Gheybi K et al.

Nature Communications, 2025

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

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

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.

Kjeldsen MK et al.

Cancer Research Communications, 2024

39591206 (PubMed )
Supplement: crc-24-0294_supplementarygenetable_s1_suppst1.xlsx › SupplementaryGeneTableS1

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

Pitiot AS et al.

Clinical Genetics, 2024

Phase II study of talazoparib in advanced cancers with BRCA1/2, DNA repair, and PTEN alterations.

Piha-Paul SA et al.

Npj Precision Oncology, 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

Pancreatic cancer cluster region identified in BRCA2.

Chian JS et al.

Journal of Medical Genetics, 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993157 (PubMed )
Supplement: media-4.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-s005.xlsx › Chinese

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora V et al.

Protein Science : a Publication of the Protein Society, 2023

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Sivakumar S et al.

Nature Communications, 2022

36470901 (PubMed )
Supplement: 41467_2022_35245_MOESM4_ESM.xlsx › Supplementary_Data_13

Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.

D'Elia G et al.

Genes, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

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

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

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

Bao G et al.

Frontiers in Oncology, 2022

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

Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Paik ES et al.

Cancer Science, 2021

Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population.

Qin Z et al.

Journal of Medical Genetics, 2021

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Solano AR et al.

Cancers, 2021

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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."