ArticleInternational journal of cancer2019
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Article in International journal of cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
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- Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population.International journal of molecular sciences · 2023Article
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- Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.Genome medicine · 2023Observational
- Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.International journal of molecular sciences · 2023Article
- ATM c.7570G>C is a high-risk allele for breast cancer.International journal of cancer · 2023Article
- A novelFrontiers in oncology · 2023Article
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- Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?International journal of molecular sciences · 2022Article
- Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.NPJ breast cancer · 2021Article
- Review
- The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-Links.Genes · 2020Review
- Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.Cancers · 2020Article
- ALTernative Functions for Human FANCM at Telomeres.Frontiers in molecular biosciences · 2019Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in BRCA1 and BRCA2 genes predispose to breast and ovarian cancer (BC/OC) with a high lifetime risk, whereas mutations in PALB2, CHEK2, ATM, FANCM, RAD51C and RAD51D genes cause a moderately elevated risk. In the Finnish population, recurrent mutations have been identified in all of these genes, the latest being CHEK2 c.319+2T>A and c.444+1G>A. By genotyping 3,156 cases and 2,089 controls, we estimated the frequencies of CHEK2 c.319+2T>A and c.444+1G>A in Finnish BC patients. CHEK2 c.319+2T>A was detected in 0.7% of the patients, and it was associated with a high risk of BC in the unselected patient group (OR = 5.40 [95% CI 1.58-18.45], p = 0.007) and similarly in the familial patient group. CHEK2 c.444+1G>A was identified in 0.1% of all patients. Additionally, we evaluated the combined prevalence of recurrent moderate-risk gene mutations in 2,487 BC patients, 556 OC patients and 261 BRCA1/2 carriers from 109 families. The overall frequency of the mutations was 13.3% in 1,141 BRCA1/2-negative familial BC patients, 7.5% in 1,727 unselected BC patients and 7.2% in 556 unselected OC patients. At least one moderate-risk gene mutation was found in 12.5% of BRCA1 families and 7.1% of BRCA1 index patients, as well as in 17.0% of BRCA2 families and 11.3% of BRCA2 index patients, and the mutations were associated with an additional risk in the BRCA1/2 index patients (OR = 2.63 [1.15-5.48], p = 0.011). These results support gene panel testing of even multiple members of BC families where several mutations may segregate in different individuals.
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