ArticleCancer2019
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Article in Cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 60 citations in OpenAlex.
- Article
- High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.Cancer medicine · 2026Article
- Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.Scientific reports · 2026Article
- Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.Familial cancer · 2025Article
- Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Nature communications · 2025Article
- Emotional distress and quality of life in high and moderate penetrance germline mutations carriers diagnosed with breast cancer: a preliminary study.Medicine and pharmacy reports · 2025Article
- Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.Breast cancer research and treatment · 2025Article
- Predicting Pathogenic Variants of Breast Cancer Using Ultrasound-Derived Machine Learning Models.Cancers · 2025Article
- Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.Breast cancer research : BCR · 2025Article
- Case Report: Functional validation of a rare variantFrontiers in oncology · 2025Article
- Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing.World journal of oncology · 2024Article
- Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Journal of cancer research and clinical oncology · 2024Article
- Article
- Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics.Cancer research · 2023Article
- Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.Genes · 2023Article
- Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.Cancers · 2023Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Impact of DNA damage response defects in cancer cells on response to immunotherapy and radiotherapy.Journal of medical imaging and radiation oncology · 2022Review
- Cancer Epidemiology in Hispanic Populations: What Have We Learned and Where Do We Need to Make Progress?Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Review
- Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.Frontiers in genetics · 2022Article
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19 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundBreast cancer (BC) is the most common cancer and related cause of mortality among Hispanics, yet susceptibility has been understudied. BRCA1 and BRCA2 (BRCA) mutations explain less than one-half of hereditary BC, and the proportion associated with other BC susceptibility genes is unknown.
methodsGermline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53).
resultsForty-nine (4.6%) pathogenic or likely pathogenic variants (PVs) in 47 of 1054 participants (4.5%), including 21 truncating frameshift, 20 missense, 5 nonsense, and 4 splice variants, were identified in CHEK2 (n = 20), PALB2 (n = 18), ATM (n = 5), TP53 (n = 3), BRIP1 (n = 2), and CDH1 and NF1 (both n = 1) and none were identified in NBN, PTEN, STK11, RAD51C, or RAD51D. Nine participants carried the PALB2 c.2167_2168del PV (0.85%), and 14 carried the CHEK2 c.707T>C PV (1.32%).
conclusionsOf 1054 BRCA-negative, high-risk Hispanic women, 4.5% carried a PV in a cancer susceptibility gene, increasing understanding of hereditary BC in this population. Recurrent PVs in PALB2 and CHEK2 represented 47% (23 of 49) of the total, suggesting a founder effect. Accurate classification of variants was enabled by carefully controlling for ancestry and the increased identification of at-risk Hispanics for screening and prevention.
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