Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Y1480*
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BRCA2

NM_000059.4:p.Y1480*

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Biallelic BRCA2 variants induce premature ovarian insufficiency by impaired meiotic homologous recombination.

Wu X et al.

Communications Biology, 2025

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_MOESM2_ESM.pdf

Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients.

Yang Y et al.

Oncology, 2024

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

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors.

Froyen G et al.

Cancers, 2022

35626061 (PubMed )
Supplement: cancers-14-02457-s001.zip › cancers-1701391-supplementary.pdf

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

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

BRCA2 in Ovarian Development and Function.

Turchetti D et al.

The New England Journal of Medicine, 2019

BRCA2 in Ovarian Development and Function. Reply.

Zangen D et al.

The New England Journal of Medicine, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.

Brozek I et al.

Gynecologic Oncology, 2008

Cancer variation associated with the position of the mutation in the BRCA2 gene.

Lubinski J et al.

Familial Cancer, 2004

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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."