ArticleJournal of the National Cancer Institute2020
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Article in Journal of the National Cancer Institute, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 58 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
58 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.Human molecular genetics · 2024Pooled it
- A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How?Cancer medicine · 2021Pooled it
- Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer by Age, Race, and Tumor Subtype.Annals of surgical oncology · 2026Article
- Knowledge, attitudes, and self-efficacy toward cancer genetic testing among Black women with and without breast cancer.Cancer causes & control : CCC · 2026Article
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women.Cancer · 2026Article
- Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.American journal of human genetics · 2026Article
- Establishing the first Afro-Caribbean breast cancer cell lines reveals ECM pathway enrichment and distinctive drug sensitivities.Scientific reports · 2026Article
- High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.Cancer medicine · 2026Article
- Genetic landscape of Chinese colorectal cancer: insights into germline and somatic mutations.BMC cancer · 2026Article
- Mutational profiles of spontaneous and radiation-related mammary carcinomas in a rat model of Brca1 haploinsufficiency.Scientific reports · 2026Article
- Differences in breast cancer outcomes amongst Caribbean born women in Florida, USA-a population-based analysis.Lancet regional health. Americas · 2025Article
- Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.JAMA oncology · 2025Article
- Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.Human genomics · 2025Article
- Utilization of Genetic Testing and Surgical Implications in an Ethnically Diverse Hawaiian Population.Hawai'i journal of health & social welfare · 2025Article
- Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.British journal of cancer · 2025Article
- Targeting racial disparities in breast cancer: mechanistic insights and therapeutic potential of African medicinal plants.Medical oncology (Northwood, London, England) · 2025Review
- Genome-wide association study identifies common variants associated with breast cancer in South African Black women.Nature communications · 2025Article
- GermlineJournal of personalized medicine · 2024Article
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
32 authors at 15 institutions in 1 country.
Funding
Abstract
backgroundThe risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies.
methodsGermline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer.
resultsPathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer.
conclusionsThe study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.