Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.A1991V
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BRCA2

NM_000059.4:p.A1991V

Associated Papers

An Investigation of the BRCA2 Met1915Thr Polymorphism in Azerbaijani Breast Cancer Patients.

Safarzade Z et al.

Medical Sciences (basel, Switzerland), 2025

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2

Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.

Złowocka-Perłowska E et al.

Hereditary Cancer in Clinical Practice, 2022

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

Patruno M et al.

Cancers, 2021

34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.pdf

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Foglietta J et al.

Genes, 2020

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.

Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis.

Pogoda K et al.

Journal of Oncology, 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

Rapid and easy detection of the five most common mutations in BRCA1 and BRCA2 genes in the Polish population using CAPS and ACRS-PCR methods.

Dąbrowski A et al.

Acta Biochimica Polonica, 2019

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Breast cancer in an 18-year-old female: A fatal case report and literature review.

Jóźwik M et al.

Cancer Biology & Therapy, 2018

Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia.

Briceño-Balcázar I et al.

Colombia Medica (cali, Colombia), 2017

Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.

Yassaee VR et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.

Ławniczak M et al.

Polskie Archiwum Medycyny Wewnetrznej, 2015

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L et al.

Human Mutation, 2014

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Stordal B et al.

Molecular Oncology, 2013

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Carraro DM et al.

Plos One, 2013

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

Ozcelik H et al.

The Journal of Molecular Diagnostics : Jmd, 2012

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Jalkh N et al.

Hereditary Cancer in Clinical Practice, 2012

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

Stegel V et al.

Bmc Medical Genetics, 2011

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

Balabas A et al.

Familial Cancer, 2010

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

Miolo G et al.

Bmc Cancer, 2009

Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.

Serrano-Fernández P et al.

Breast Cancer Research and Treatment, 2009

No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees.

Allen-Brady K et al.

Bmc Research Notes, 2009

Hereditary breast and ovarian cancer.

Gronwald J et al.

Hereditary Cancer in Clinical Practice, 2008

Common variants of DNA repair genes and malignant melanoma.

Debniak T et al.

European Journal of Cancer (oxford, England : 1990), 2008

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Beristain E et al.

Breast Cancer Research and Treatment, 2007

Breast cancer susceptibility genes.

Lubinski J et al.

Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 2007

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Loizidou M et al.

Clinical Genetics, 2007

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

Han SH et al.

Clinical Genetics, 2006

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G et al.

Breast Cancer Research and Treatment, 2006

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY et al.

Biochemical and Biophysical Research Communications, 2006

Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Górski B

Hereditary Cancer in Clinical Practice, 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

Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families.

Rapakko K et al.

Cancer Letters, 2006

BRCA1 and BRCA2 mutations in a South American population.

Jara L et al.

Cancer Genetics and Cytogenetics, 2006

A common missense variant in BRCA2 predisposes to early onset breast cancer.

Górski B et al.

Breast Cancer Research : Bcr, 2005

A high proportion of founder BRCA1 mutations in Polish breast cancer families.

Górski B et al.

International Journal of Cancer, 2004

Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations.

Menkiszak J et al.

Journal of Applied Genetics, 2004

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

Edwards SM et al.

American Journal of Human Genetics, 2003

Clinical characteristics of hereditary ovarian cancer (HOC) in Poland.

Menkiszak J et al.

Ginekologia Polska, 2002

A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele.

Solano AR et al.

European Journal of Human Genetics : Ejhg, 2002

Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.

Kwiatkowska E et al.

International Journal of Cancer, 2002

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

Yassaee VR et al.

Breast Cancer Research : Bcr, 2002

An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

Edwards SM et al.

Human Mutation, 2001

Identification of specific BRCA1 and BRCA2 variants by DHPLC.

Gross E et al.

Human Mutation, 2000

Low incidence of germline BRCA2 gene mutations among Spanish breast cancer patients.

Gomendio B et al.

Oncology, 1999

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