Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
出版年份 2022 全文链接
标题
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
作者
关键词
-
出版物
BMC CANCER
Volume 22, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-02-25
DOI
10.1186/s12885-022-09181-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries
- (2021) Hyuna Sung et al. CA-A CANCER JOURNAL FOR CLINICIANS
- Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
- (2021) Gisella Figlioli et al. Cancers
- Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer
- (2021) Alicja Łukomska et al. Cancers
- Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study
- (2021) Jaco Oosthuizen et al. Frontiers in Oncology
- Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia
- (2021) Dorra Ben Ayed-Guerfali et al. Journal of Translational Medicine
- Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge
- (2021) M. Bono et al. ESMO Open
- Characteristics of breast cancer in Slovenian patients with germline CHEK2 c.444+1G>A mutation.
- (2020) Nikola Besic et al. JOURNAL OF CLINICAL ONCOLOGY
- Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
- (2020) Supriya Behl et al. Scientific Reports
- Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes
- (2020) Lorena Incorvaia et al. Cancers
- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC)
- (2020) Fatima Zahra El Ansari et al. BMC CANCER
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco
- (2020) Joaira Bakkach et al. BMC CANCER
- Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2
- (2020) Daniele Fanale et al. Cancers
- A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer
- (2019) Carol Forbes et al. Cancer Management and Research
- BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report
- (2019) Chiraz Mehemmai et al. PATHOLOGY & ONCOLOGY RESEARCH
- Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East
- (2019) Abdul K. Siraj et al. HUMAN MUTATION
- Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia
- (2019) Wijden Mahfoudh et al. Journal of Translational Medicine
- One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
- (2019) Florentia Fostira et al. JOURNAL OF MEDICAL GENETICS
- High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients
- (2018) Al-Joharah Alhuqail et al. BREAST CANCER RESEARCH AND TREATMENT
- Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
- (2018) L.M. Pelttari et al. CLINICAL GENETICS
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
- (2018) Timothy R. Rebbeck et al. HUMAN MUTATION
- Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)
- (2018) Emma Tudini et al. BREAST CANCER RESEARCH AND TREATMENT
- Population Based Testing for Primary Prevention: A Systematic Review
- (2018) Ranjit Manchanda et al. Cancers
- A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico
- (2018) Hector Diaz-Zabala et al. Cancers
- BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile
- (2017) Carolina Alvarez et al. Oncotarget
- Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer
- (2017) W. Troudi et al. Cancer Biomarkers
- Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
- (2017) D. Torres et al. Scientific Reports
- Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan
- (2016) Muhammad U. Rashid et al. BREAST CANCER RESEARCH AND TREATMENT
- Identification of a founderBRCA1mutation in the Moroccan population
- (2016) F. Quiles et al. CLINICAL GENETICS
- Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer
- (2016) Sarra Henouda et al. DISEASE MARKERS
- Identification of novelBRCAfounder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis
- (2016) Rong Bu et al. INTERNATIONAL JOURNAL OF CANCER
- Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review
- (2016) Carlos Andrés Ossa et al. ONCOLOGIST
- First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
- (2016) Farah Jouali et al. Oncology Letters
- Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients
- (2015) Meryam El Khachibi et al. BMC CANCER
- A high frequency ofBRCAmutations in young black women with breast cancer residing in Florida
- (2015) Tuya Pal et al. CANCER
- Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas
- (2015) M. Trottier et al. CLINICAL GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients
- (2014) Felipe C Silva et al. BMC Medical Genetics
- Significant clinical impact of recurrentBRCA1andBRCA2mutations in Mexico
- (2014) Cynthia Villarreal-Garza et al. CANCER
- Prevalence ofBRCA1andBRCA2mutations in unselected breast cancer patients from Peru
- (2014) J. Abugattas et al. CLINICAL GENETICS
- Features of breast cancer in developing countries, examples from North-Africa
- (2014) Marilys Corbex et al. EUROPEAN JOURNAL OF CANCER
- The spectrum ofBRCA1andBRCA2mutations in breast cancer patients in the Bahamas
- (2013) MR Akbari et al. CLINICAL GENETICS
- Mutation spectrum and prevalence ofBRCA1 andBRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia
- (2013) A. Riahi et al. CLINICAL GENETICS
- BRCA1andBRCA2Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families
- (2013) Farid Cherbal et al. DISEASE MARKERS
- Mutation Screening of the BRCA1 Gene in Early Onset and Familial Breast/Ovarian Cancer in Moroccan Population
- (2013) Abdelilah Laraqui et al. International Journal of Medical Sciences
- The Korean Hereditary Breast Cancer Study: Review and Future Perspectives
- (2013) Eunyoung Kang et al. Journal of Breast Cancer
- Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants
- (2013) Francisco Quiles et al. PLoS One
- Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry
- (2012) Jing Zhang et al. BREAST CANCER RESEARCH AND TREATMENT
- Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype
- (2012) Miguel A. M. Moreira et al. Familial Cancer
- Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
- (2012) Crisle Vignol Dillenburg et al. GENETICS AND MOLECULAR BIOLOGY
- BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and unclassified variants
- (2012) Amal Tazzite et al. GYNECOLOGIC ONCOLOGY
- BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases
- (2012) Nancy Uhrhammer et al. International Journal of Medical Sciences
- Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis
- (2012) Ava Kwong et al. PLoS One
- BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin
- (2012) Angela Solano et al. SpringerPlus
- BRCA1andBRCA2mutations among familial breast cancer patients from Costa Rica
- (2011) GA Gutiérrez Espeleta et al. CLINICAL GENETICS
- High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients
- (2011) James D. Fackenthal et al. INTERNATIONAL JOURNAL OF CANCER
- Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population
- (2011) Wijden Mahfoudh et al. MOLECULAR BIOLOGY REPORTS
- Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
- (2011) Sandrine Caputo et al. NUCLEIC ACIDS RESEARCH
- Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer
- (2011) FATIMA ZAHRA LAARABI et al. Oncology Letters
- BRCA1gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer – a population based study from the Western Sweden Health Care region
- (2010) Zakaria Einbeigi et al. ACTA ONCOLOGICA
- A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas
- (2010) Talia Donenberg et al. BREAST CANCER RESEARCH AND TREATMENT
- Family history, BRCA mutations and breast cancer in Vietnamese women
- (2010) OM Ginsburg et al. CLINICAL GENETICS
- On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
- (2010) Nancy Hamel et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer
- (2010) Luca Cavallone et al. Familial Cancer
- Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection
- (2010) Safinaz S Ibrahim et al. JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
- (2010) Ramūnas Janavičius EPMA Journal
- Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil
- (2009) V.F. Esteves et al. BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
- The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype
- (2009) T. Heikkinen et al. CLINICAL CANCER RESEARCH
- BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation
- (2009) Kannan Vaidyanathan et al. JOURNAL OF BIOSCIENCES
- The Contribution of BRCA1 and BRCA2 to Ovarian Cancer
- (2009) Susan J. Ramus et al. Molecular Oncology
- BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer
- (2008) Mads Thomassen et al. ACTA ONCOLOGICA
- Reconstructing the Genealogy of a BRCA1 Founder Mutation by Phylogenetic Analysis
- (2008) F. Marroni et al. ANNALS OF HUMAN GENETICS
- Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer
- (2008) Eva Machackova et al. BMC CANCER
- Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families
- (2008) Mateja Krajc et al. BMC Medical Genetics
- Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania
- (2008) Ramūnas Janavičius et al. BREAST CANCER RESEARCH AND TREATMENT
- Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy
- (2008) Laura Papi et al. BREAST CANCER RESEARCH AND TREATMENT
- BRCA1 and BRCA2 Mutation Prevalence and Clinical Characteristics of a Population-Based Series of Ovarian Cancer Cases from Denmark
- (2008) M. Soegaard et al. CLINICAL CANCER RESEARCH
- Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate
- (2008) Brett T Chiquet et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba
- (2008) Rolando Comacho Rodriguez et al. Familial Cancer
- Evidence for an ancient BRCA1 mutation in breast cancer patients of yoruban ancestry
- (2008) Bifeng Zhang et al. Familial Cancer
- MLPA screening in theBRCA1gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
- (2008) Stefanie Engert et al. HUMAN MUTATION
- BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy
- (2007) Sandro Malacrida et al. JOURNAL OF CLINICAL ONCOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started