ArticleJournal of medical genetics2002
The effect of a single BRCA2 mutation on cancer in Iceland.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
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- PathogenicCancers · 2021Review
- BRCA mutations and gastrointestinal cancers: When to expect the unexpected?World journal of clinical oncology · 2021Review
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- Circulating mutational portrait of cancer: manifestation of aggressive clonal events in both early and late stages.Journal of hematology & oncology · 2017Article
- Oestrogen receptor status, treatment and breast cancer prognosis in Icelandic BRCA2 mutation carriers.British journal of cancer · 2016Article
- Intracellular location of BRCA2 protein expression and prostate cancer progression in the Swedish Watchful Waiting Cohort.Carcinogenesis · 2016Article
- Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Article
- The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers.Hereditary cancer in clinical practice · 2015Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.The New England journal of medicine · 2012Article
- Do Breast Cancer Patients Tested in the Oncology Care Setting Share BRCA Mutation Results with Family Members and Health Care Providers?Journal of cancer epidemiology · 2012Article
- Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.Hereditary cancer in clinical practice · 2011Article
- BRCA mutations in the management of breast cancer: the state of the art.Nature reviews. Clinical oncology · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo estimate the risk of malignant diseases in families of probands with the same mutation in the BRCA2 gene.
designA cohort study using record linkage of a breast cancer family resource and the Icelandic Cancer Registry.
settingIceland. SUBJECTS: Families of 995 breast cancer patients, from which 887 were tested for a single founder 999del5 mutation; 90 had the mutation and 797 did not.
resultsRelatives of probands with the mutation had significantly increased relative risk (RR) of breast cancer. For first degree relatives, the RR was 7.55 (95% CI 6.04 to 9.03) but was 1.72 (95% CI 1.49 to 1.96) in first degree relatives of probands without the mutation. For prostate and ovarian cancer, the first and second degree relatives of probands with the mutation had a significantly increased RR, but in families of probands without the mutation no significant familial risk was found.
conclusionsThe 999del5 mutation in the BRCA2 gene explains a substantial proportion of familial risk of breast cancer in Iceland, but significant familial risk remains in relatives of probands without the mutation. For prostate and ovarian cancer, the mutation accounts for most of the familiality observed in families of breast cancer patients.
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Registered trials
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.