ArticleJournal of medical genetics2007
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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47 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
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- Influence of family history on penetrance of hereditary cancers in a population setting.EClinicalMedicine · 2023Article
- Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.International journal of molecular sciences · 2022Article
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- Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation.Journal of medical biochemistry · 2019Article
- Somatic variants of potential clinical significance in the tumors ofHereditary cancer in clinical practice · 2019Article
- Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.Journal of the National Cancer Institute · 2018Article
- Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients WithoutBalkan journal of medical genetics : BJMG · 2018Article
- Trio sequencing in pediatric cancer and clinical implications.EMBO molecular medicine · 2018Article
- A Germline Mutation in the BRCA1 3’UTR Variant Predicts Susceptibility to Breast Cancer in a Saudi Arabian PopulationAsian Pacific journal of cancer prevention : APJCP · 2018Article
- Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?PloS one · 2018Article
- No evidence of excessive cancer screening in female noncarriers fromCurrent oncology (Toronto, Ont.) · 2017Article
- Antimüllerian hormone levels are lower in BRCA2 mutation carriers.Fertility and sterility · 2017Article
- Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.Oncology reports · 2017Article
- Next-generation sequencing in familial breast cancer patients from Lebanon.BMC medical genomics · 2017Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundThe identification of BRCA1 and BRCA2 mutations in familial breast cancer kindreds allows genetic testing of at-risk relatives. Those who test negative are usually reassured and additional breast cancer surveillance is discontinued. However, we postulated that in high-risk families, such as those seen in clinical genetics centres, the risk of breast cancer might be influenced not only by the BRCA1/BRCA2 mutation but also by modifier genes. One manifestation of this would be the presence of phenocopies in BRCA1/BRCA2 kindreds.
methods277 families with pathogenic BRCA1/BRCA2 mutations were reviewed and 28 breast cancer phenocopies identified. The relative risk of breast cancer in those testing negative was assessed using incidence rates from our cancer registry based on local population.
resultsPhenocopies constituted up to 24% of tests on women with breast cancer after the identification of the mutation in the proband. The standardised incidence ratio for women who tested negative for the BRCA1/BRCA2 family mutation was 5.3 for all relatives, 5.0 for all first-degree relatives (FDRs) and 3.2 (95% confidence interval 2.0 to 4.9) for FDRs in whose family all other cases of breast and ovarian cancer could be explained by the identified mutation. 13 of 107 (12.1%) FDRs with breast cancer and no unexplained family history tested negative.
conclusionIn high-risk families, women who test negative for the familial BRCA1/BRCA2 mutation have an increased risk of breast cancer consistent with genetic modifiers. In light of this, such women should still be considered for continued surveillance.
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