Associated Papers
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
Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication.
Okunola AO et al.
Expert Review of Molecular Diagnostics, 2023
Pathogenic BRCA1 variants disrupt PLK1-regulation of mitotic spindle orientation.
He Z et al.
Nature Communications, 2022
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S et al.
The Journal of International Medical Research, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
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
BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
Incorvaia L et al.
Therapeutic Advances in Medical Oncology, 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
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
Rashid MU et al.
Hereditary Cancer in Clinical Practice, 2019
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
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J et al.
Breast Cancer Research and Treatment, 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
BRCA1 haploinsufficiency for replication stress suppression in primary cells.
Pathania S et al.
Nature Communications, 2014
Hereditary breast cancer in the Han Chinese population.
Cao W et al.
Journal of Epidemiology, 2013
Epidemiology, major risk factors and genetic predisposition for breast cancer in the Pakistani population.
Shaukat U et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2013
Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.
Oluwagbemiga LA et al.
Springerplus, 2012
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
Kim H 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
A deleterious BRCA1 mutation in a young Pakistani woman with metaplastic breast carcinoma.
Rashid MU et al.
Pathology, Research and Practice, 2011
Family history, BRCA mutations and breast cancer in Vietnamese women.
Ginsburg OM et al.
Clinical 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
Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation.
Noël JC et al.
Pathology, Research and Practice, 2010
Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers.
Tung N et al.
Breast Cancer Research : Bcr, 2010
Age-dependent penetrance of different germline mutations in the BRCA1 gene.
Al-Mulla F et al.
Journal of Clinical Pathology, 2009
Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.
Takano EA et al.
Bmc Cancer, 2008
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
Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.
Rashid MU et al.
International Journal of Cancer, 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 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.
Peixoto A et al.
Familial Cancer, 2006
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.
Kroiss R et al.
Human Mutation, 2005
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.
Bonadona V et al.
Genes, Chromosomes & Cancer, 2005
Familial breast and ovarian cancers.
Arai M et al.
International Journal of Clinical Oncology, 2004
Androgen pathway dysregulation in BRCA1-mutated breast tumors.
Berns EM et al.
Breast Cancer Research and Treatment, 2003
Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients.
Manguoglu AE et al.
Human Mutation, 2003
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.
Liede A et al.
American Journal of Human Genetics, 2002
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
Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.
Berns EM et al.
British Journal of Cancer, 2001
Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.
Papelard H et al.
British Journal of Cancer, 2000
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
Yazici H et al.
British Journal of Cancer, 2000
Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.
Claes K et al.
Disease Markers, 1999
Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.
Matsushima M et al.
Human Molecular Genetics, 1995