Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E2029*
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BRCA2

NM_000059.4:p.E2029*

Associated Papers

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

Hereditary ovarian cancer.

Jurgiel WA et al.

Discover Oncology, 2026

Rare diseases load through the study of a regional population.

Michel É et al.

Plos Genetics, 2025

41100445 (PubMed )
Supplement: pgen.1011876.s002.pdf

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

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 › Japanese

A MALDI-TOF mass spectrometry-based method for detection of copy number variations in BRCA1 and BRCA2 genes.

Zhou H et al.

Frontiers in Molecular Biosciences, 2023

38274092 (PubMed )
Supplement: Table3.XLSX › 2b

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer?

Wang Y et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2022

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

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

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.

Behl S et al.

Scientific Reports, 2020

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Novel high-grade serous epithelial ovarian cancer cell lines that reflect the molecular diversity of both the sporadic and hereditary disease.

Fleury H et al.

Genes & Cancer, 2015

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

Belanger MH et al.

Journal of Ovarian Research, 2015

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

Shanmughapriya S et al.

Oncology, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.

Abd-Rabbo D et al.

Cancer Prevention Research (philadelphia, Pa.), 2012

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R

The Epma Journal, 2010

The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

Ghadirian P et al.

Clinical Genetics, 2009

The contribution of BRCA1 and BRCA2 to ovarian cancer.

Ramus SJ et al.

Molecular Oncology, 2009

Weight History, Smoking, Physical Activity and Breast Cancer Risk among French-Canadian Women Non-Carriers of More Frequent BRCA1/2 Mutations.

Bissonauth V et al.

Journal of Cancer Epidemiology, 2009

Characterization of three new serous epithelial ovarian cancer cell lines.

Ouellet V et al.

Bmc Cancer, 2008

Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families.

Arcand SL et al.

Breast Cancer Research and Treatment, 2008

Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent.

Oros KK et al.

Clinical Genetics, 2006

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Oros KK et al.

Bmc Medical Genetics, 2006

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

Lubinski J et al.

Familial Cancer, 2004

Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically?

Al-Saffar M et al.

Journal of Medical Genetics, 2002

[BRCA2 gene mutation detection in hereditary ovarian cancer tissues].

Qiao Y et al.

Zhonghua Fu Chan Ke Za Zhi, 2002

Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history.

Tonin PN et al.

International Journal of Cancer, 2001

Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history.

Tonin PN et al.

Clinical Genetics, 1999

A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: case report and review of literature.

Verbruggen MB et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 0

Assessing breast cancer risk and BRCA1/2 carrier probability.

Culver J et al.

Breast Disease, 0

Breast cancer risk in relation to alcohol consumption and BRCA gene mutations--a case-only study of gene-environment interaction.

Dennis J et al.

The Breast Journal, 0

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