Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

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