Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1250*
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BRCA2

NM_000059.4:p.E1250*

Associated Papers

Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.

Demarest K et al.

Jama Network Open, 2025

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

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

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Sekine M et al.

Genes, 2021

Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Lertwilaiwittaya P et al.

Breast Cancer Research and Treatment, 2021

BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.

Cortesi L et al.

Cancer Biology & Medicine, 2021

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

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-s007.xlsx › CIMBA

Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.

Dougherty BA et al.

Oncotarget, 2017

28525389 (PubMed )
Supplement: oncotarget-08-43653-s002.docx

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Kwong A et al.

Journal of Medical Genetics, 2016

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM et al.

Plos One, 2015

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM et al.

Scientific Reports, 2014

24504028 (PubMed )
Supplement: srep04026-s1.pdf

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

Finkelman BS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2012

Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

Bayraktar S et al.

Cancer, 2012

Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

Litton JK et al.

Cancer, 2012

Secondary mutations of BRCA1/2 and drug resistance.

Dhillon KK et al.

Cancer Science, 2011

Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance.

Swisher EM et al.

Cancer Research, 2008

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Ramus SJ et al.

Human Mutation, 2007

Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families.

Jara L et al.

Biological Research, 2004

BRCA1 germline mutations in Indian familial breast cancer.

Valarmathi MT et al.

Human Mutation, 2003

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.

Couch FJ et al.

Journal of the National Cancer Institute. Monographs, 1995

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

Castilla LH et al.

Nature Genetics, 1994

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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."