Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L3109insFs
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BRCA2

NM_000059.4:p.L3109insFs

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

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA2

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L et al.

Cancers, 2020

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-s005.xlsx › dbBRCA2

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 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 and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s003.xlsx › Sheet1

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

Common low-penetrance risk variants associated with breast cancer in Polish women.

Ledwoń JK et al.

Bmc Cancer, 2013

Hereditary breast cancer in the Han Chinese population.

Cao W et al.

Journal of Epidemiology, 2013

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

Genetic variation of the brca1 and brca2 genes in macedonian patients.

Maleva I et al.

Balkan Journal of Medical Genetics : Bjmg, 2012

Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.

Zhang J et al.

Breast Cancer Research and Treatment, 2012

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

Balabas A et al.

Familial Cancer, 2010

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

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

Miolo G et al.

Bmc Cancer, 2009

The contribution of BRCA1 and BRCA2 to ovarian cancer.

Ramus SJ et al.

Molecular Oncology, 2009

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E et al.

Breast Cancer Research : Bcr, 2008

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

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

Lubinski J et al.

Familial Cancer, 2004

p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutations.

Sensi E et al.

Breast Cancer Research and Treatment, 2003

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

de Sanjosé S et al.

International Journal of Cancer, 2003

Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.

Aretini P et al.

Breast Cancer Research and Treatment, 2003

Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes.

Cortesi L et al.

European Journal of Human Genetics : Ejhg, 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

Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary.

Van Der Looij M et al.

International Journal of Cancer, 2000

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T et al.

Genomics, 1999

Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.

Spain BH et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers.

Johannsson O et al.

European Journal of Cancer (oxford, England : 1990), 1999

Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer.

Tirkkonen M et al.

Genes, Chromosomes & Cancer, 1999

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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."