ArticleJournal of medical genetics2004
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 4 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 4 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.Nature communications · 2017Pooled it
- Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis.European radiology · 2010Pooled it
- Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.Journal of the National Cancer Institute · 2010Pooled it
- Targeting Key Molecular Mechanisms in Triple-Negative Breast Cancer Therapies with Natural Compounds.Current pharmaceutical design · 2026Review
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Cohort profile: a nationwide study in DutchBMJ open · 2024Article
- Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.Cancer medicine · 2023Article
- Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile.Breast cancer research : BCR · 2023Article
- Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants inJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.Research square · 2023Article
- Hereditary breast cancer: syndromes, tumour pathology and molecular testing.Histopathology · 2023Review
- Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.Breast cancer research and treatment · 2022Article
- TheBreast care (Basel, Switzerland) · 2022Article
- Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ breast cancer · 2021Article
- Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- FromBreast care (Basel, Switzerland) · 2021Article
- Article
- Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants inCancers · 2021Article
- Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.Hereditary cancer in clinical practice · 2021Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe germline CHEK2*1100delC variant has been associated with breast cancer in multiple case families where involvement of BRCA1 and BRCA2 has been excluded.
methodsWe have investigated the tumour characteristics and prognosis of carriers of this germline variant by means of a prospective cohort study in an unselected cohort of 1084 consecutive patients with primary breast cancer. Data were collected for 34 patients with a germline CHEK2*1100delC mutation and for 102 patients without this mutation, stratified by age and date of diagnosis of the first primary breast cancer (within 1 year).
resultsCarriers developed steroid receptor positive tumours (oestrogen receptor (ER): 91%; progesterone receptor (PR): 81%) more frequently than non-carriers (ER: 69%; PR: 53%; p = 0.04). Mutation carriers more frequently had a female first or second degree relative with breast cancer (p = 0.03), or had any first or second degree relative with breast or ovarian cancer (p = 0.04). Patients with the CHEK2 variant had a more unfavourable prognosis regarding the occurrence of contralateral breast cancer (relative risk (RR) = 5.74; 95% confidence interval (CI) 1.67 to 19.65), distant metastasis-free survival (RR = 2.81; 95% CI 1.20 to 6.58), and disease-free survival (RR = 3.86; 95% CI 1.91 to 7.78). As yet, no difference with respect to overall survival has been found at a median follow up of 3.8 years.
conclusionWe conclude that carrying the CHEK2*1100delC mutation is an adverse prognostic indicator for breast cancer. If independently confirmed by others, intensive surveillance, and possibly preventive measures, should be considered for newly diagnosed breast cancer cases carrying the CHEK2*1100delC variant.
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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.