Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N1933_Q1934delFs
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BRCA2

NM_000059.4:p.N1933_Q1934delFs

Associated Papers

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.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-s010.xlsx › Asian_latino_both

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

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Loke J et al.

Hgg Advances, 2022

35146455 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.

Lynce F et al.

Journal of Genetic Counseling, 2021

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table

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

Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.

Carlo MI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of BRCA2 mutation carriers.

Karaayvaz-Yildirim M et al.

Science Advances, 2020

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.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-s006.xlsx › BRCA2_ethnic_sources_

Clinical Utility of Prospective Molecular Characterization in Advanced Endometrial Cancer.

Soumerai TE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Gardner SA et al.

Hereditary Cancer in Clinical Practice, 2018

29308099 (PubMed )
Supplement: 13053_2017_83_MOESM1_ESM.xlsx › Sheet1

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

Assessing risk for Mendelian disorders in a Bronx population.

diSibio G et al.

Molecular Genetics & Genomic Medicine, 2017

28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S2

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

Frey MK et al.

Gynecologic Oncology, 2017

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M et al.

Breast Cancer Research and Treatment, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Wong ESY et al.

Npj Genomic Medicine, 2016

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants
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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."