4.5 Article

FGFR2 genetic variants in women with breast cancer

Related references

Note: Only part of the references are listed.
Article Oncology

Discordance between PAM50 intrinsic subtyping and immunohistochemistry in South African women with breast cancer

Therese Dix-Peek et al.

Summary: In South Africa, breast cancer is classified using immunohistochemistry, while high-income countries use multiparameter genomic assays. This study investigated the concordance between IHC and PAM50 gene assay, and suggested that changing the Ki67 cutoff can improve the consistency with intrinsic subtypes and provide treatment information for patients in settings where genomic assays are unaffordable.

BREAST CANCER RESEARCH AND TREATMENT (2023)

Article Multidisciplinary Sciences

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry

Dewald Eygelaar et al.

Summary: Research on sequence variants in breast cancer susceptibility genes among women of African ancestry is limited. A study of 165 South African women diagnosed with breast cancer found that 3.6% of patients carried a pathogenic/likely pathogenic variant in a known breast cancer susceptibility gene, with the highest carrier rate for BRCA1.

SCIENTIFIC REPORTS (2022)

Article Genetics & Heredity

Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience

Nerina C. van der Merwe et al.

Summary: This article presents the results of genetic screening for breast and ovarian cancer patients conducted by the National Health Laboratory Service's Human Genetics Laboratory in South Africa. It identifies several potentially pathogenic variants and discusses the use of laboratory techniques and translational research to develop a cost-effective diagnostic test. The study also highlights the innovative capacity of medical science in South Africa in adopting first-world technologies.

FRONTIERS IN GENETICS (2022)

Article Public, Environmental & Occupational Health

Breast cancer burden in Africa: evidence from GLOBOCAN 2018

Rajesh Sharma

Summary: Breast cancer is the leading malignancy in African females, causing 74,072 deaths and 168,690 cases in 2018. Nigeria has the highest burden with 26,310 cases and 11,564 deaths. The main challenges in tackling breast cancer in Africa include late-stage disease presentation, lack of screening and therapeutic infrastructure, lack of awareness, and limited resources.

JOURNAL OF PUBLIC HEALTH (2021)

Article Biochemistry & Molecular Biology

OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH

Takuya Ogura et al.

Summary: In this study, OCT1 and its target gene NCAPH were identified as poor prognostic factors and potential therapeutic targets for patients with ER-positive breast cancer. Their high expression levels were negatively correlated with patients' DFS.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Edward Mountjoy et al.

Summary: In this study, an open resource was introduced to systematically fine map and prioritize genes across published GWAS loci, aiming at identifying causal genes associated with complex traits. By training a machine learning model using genetics and functional genomics data, the authors were able to distinguish causal genes from neighboring genes, outperforming distance-based models. The prioritized genes were found to be enriched for known approved drug targets, suggesting their potential in drug development.

NATURE GENETICS (2021)

Review Oncology

A Review of Cancer Genetics and Genomics Studies in Africa

Solomon O. Rotimi et al.

Summary: Cancer is becoming a leading cause of mortality in Africa, but there is a significant lack of research on cancer genomics in African populations, highlighting the need for more efforts in this area.

FRONTIERS IN ONCOLOGY (2021)

Article Anthropology

Genetic landscape of Gullah African Americans

Kip D. Zimmerman et al.

Summary: The study found subtle differences in population structure between Gullah African Americans and non-Gullah African Americans, including higher African ancestry and male-biased European admixture in the Gullah. Despite some relatedness to populations from Sierra Leone, the Gullah are genetically related to many West African populations, suggesting their ancestors may have originated from West Africa.

AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY (2021)

Article Biology

Fibroblast growth factor receptor 2 gene (FGFR2) rs2981582T/C polymorphism and susceptibility to breast cancer in Saudi women

Rawya Ibrahim Rabeh AlRaddadi et al.

Summary: This study revealed a significant association between the FGFR2 rs2981582 C allele and susceptibility to breast cancer, with no significant differences in genotype and allele distribution among patients with different hormonal receptor statuses. However, significant differences were found in genotype and allele distribution in ER+, PR-, and HER2 between breast cancer cases and controls. Further large-scale studies are needed to validate these results.

SAUDI JOURNAL OF BIOLOGICAL SCIENCES (2021)

Review Oncology

Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations

Mahtaab Hayat et al.

JCO GLOBAL ONCOLOGY (2021)

Article Oncology

Tumor-Associated Fibroblasts Promote HER2-Targeted Therapy Resistance through FGFR2 Activation

Patricia Fernandez-Nogueira et al.

CLINICAL CANCER RESEARCH (2020)

Article Genetics & Heredity

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal et al.

NATURE GENETICS (2020)

Article Genetics & Heredity

Genomic Diversity in Sporadic Breast Cancer in a Latin American Population

Lucia Brignoni et al.

GENES (2020)

Article Multidisciplinary Sciences

High-depth African genomes inform human migration and health

Ananyo Choudhury et al.

NATURE (2020)

Correction Genetics & Heredity

Genomics of disease risk in globally diverse populations (vol 20, pg 520, 2019)

Deepti Gurdasani et al.

NATURE REVIEWS GENETICS (2019)

Article Genetics & Heredity

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Nasim Mavaddat et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Genetics & Heredity

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Alicia R. Martin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Oncology

South African Breast Cancer and HIV Outcomes Study: Methods and Baseline Assessment

Herbert Cubasch et al.

JOURNAL OF GLOBAL ONCOLOGY (2017)

Article Oncology

FGFR2 risk SNPs confer breast cancer risk by augmenting oestrogen responsiveness

Thomas M. Campbell et al.

CARCINOGENESIS (2016)

Article Biology

Admixture into and within sub-Saharan Africa

George B. J. Busby et al.

ELIFE (2016)

Article Genetics & Heredity

The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States

Katarzyna Bryc et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Review Oncology

Genetics of breast cancer: a topic in evolution

S. Shiovitz et al.

ANNALS OF ONCOLOGY (2015)

Article Biochemistry & Molecular Biology

Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer

Giovanni Ciriello et al.

Article Urology & Nephrology

APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans

Alex N. Kasembeli et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Multidisciplinary Sciences

The African Genome Variation Project shapes medical genetics in Africa

Deepti Gurdasani et al.

NATURE (2015)

Editorial Material Medical Laboratory Technology

Template for Reporting Results of Biomarker Testing of Specimens From Patients With Carcinoma of the Breast

Patrick L. Fitzgibbons et al.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2014)

Article Genetics & Heredity

Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Kerstin B. Meyer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Biotechnology & Applied Microbiology

Genetic diversity in black South Africans from Soweto

Andrew May et al.

BMC GENOMICS (2013)

Article Genetics & Heredity

Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations

Ugur Hodoglugil et al.

ANNALS OF HUMAN GENETICS (2012)

Review Oncology

Genetic susceptibility to breast cancer

Nasim Mavaddat et al.

MOLECULAR ONCOLOGY (2010)

Review Medicine, Research & Experimental

FGFR2-related pathogenesis and FGFR2-targeted therapeutics

Yuriko Katoh et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2009)

Article Multidisciplinary Sciences

The Genetic Structure and History of Africans and African Americans

Sarah A. Tishkoff et al.

SCIENCE (2009)

Article Biotechnology & Applied Microbiology

Characterizing the admixed African ancestry of African Americans

Fouad Zakharia et al.

GENOME BIOLOGY (2009)

Article Biochemistry & Molecular Biology

Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer

Kerstin B. Meyer et al.

PLOS BIOLOGY (2008)

Article Multidisciplinary Sciences

Genome-wide association study identifies novel breast cancer susceptibility loci

Douglas F. Easton et al.

NATURE (2007)