Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.V681insFs
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BRCA2

NM_000059.4:p.V681insFs

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

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

Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.

Abdallah N et al.

Cancer Causes & Control : Ccc, 2023

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

Sekine M et al.

Genes, 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

Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.

Frey MK et al.

Cancer, 2019

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Arai M et al.

Journal of Human Genetics, 2018

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

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Chaffee KG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Linking distant relatives with BRCA gene mutations: potential for cost savings.

Senter L et al.

Clinical Genetics, 2014

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

Blay P et al.

Bmc Cancer, 2013

A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity.

Becker AA et al.

Breast Cancer Research and Treatment, 2012

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

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

Myers K et al.

Pediatric Blood & Cancer, 2012

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

Biswas K et al.

Blood, 2011

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V et al.

Bmc Medical Genetics, 2011

Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

Farooq A et al.

Journal of Oncology, 2011

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

Janavičius R

The Epma Journal, 2010

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Krajc M et al.

Bmc Medical Genetics, 2008

Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

Willems AJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

[Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].

Ma ZL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Tan AC et al.

Cancer Biology & Therapy, 2008

Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

Tai YC et al.

Journal of the National Cancer Institute, 2007

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Alter BP et al.

Journal of Medical Genetics, 2007

Lower level of BRCA2 protein in heterozygous mutation carriers is correlated with an increase in DNA double strand breaks and an impaired DSB repair.

Arnold K et al.

Cancer Letters, 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

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

Pal T et al.

Cancer, 2005

Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

Barber LM et al.

British Journal of Haematology, 2005

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

Reid S et al.

Journal of Medical Genetics, 2005

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

Lubinski J et al.

Familial Cancer, 2004

Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations.

Kauff ND et al.

Cancer, 2003

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.

Plaschke J et al.

Journal of Medical Genetics, 2000

Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

Spitzer E et al.

International Journal of Cancer, 2000

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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."