ArticleAmerican journal of human genetics2000
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
31 citing papers in PubMed, 158 citations in OpenAlex.
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.Global medical genetics · 2025Article
- BRCA Mutations-The Achilles Heel of Breast, Ovarian and Other Epithelial Cancers.International journal of molecular sciences · 2023Review
- Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.Familial cancer · 2014Article
- BRCA-associated ovarian cancer: from molecular genetics to risk management.BioMed research international · 2014Review
- Ovarian cancer biomarker discovery based on genomic approaches.Journal of cancer prevention · 2013Review
- Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.International journal of medical sciences · 2013Article
- BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.Familial cancer · 2012Article
- Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.Iranian journal of public health · 2011Article
- Genomic rearrangements in BRCA1 and BRCA2: A literature review.Genetics and molecular biology · 2009Article
- Age-dependent penetrance of different germline mutations in the BRCA1 gene.Journal of clinical pathology · 2009Article
- The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.Cancer research · 2008Article
- Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba.Familial cancer · 2008Article
- High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.BMC medical genetics · 2007Article
- Improved survival in BRCA2 carriers with ovarian cancer.Familial cancer · 2007Article
- Functional assays for BRCA1 and BRCA2.The international journal of biochemistry & cell biology · 2007Review
- Age and Geographical Distribution in Families with BRCA1/BRCA2 Mutations in the Slovak Republic.Hereditary cancer in clinical practice · 2006Article
- Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.BMC medical genetics · 2006Article
- Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.Familial cancer · 2006Article
- Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.Journal of cancer research and clinical oncology · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
The frequency of genomic rearrangements in BRCA1 was assessed in 42 American families with breast and ovarian cancer who were seeking genetic testing and who were subsequently found to be negative for BRCA1 and BRCA2 coding-region mutations. An affected individual from each family was tested by PCR for the exon 13 duplication (Puget et al. 1999a) and by Southern blot analysis for novel genomic rearrangements. The exon 13 duplication was detected in one family, and four families had other genomic rearrangements. A total of 5 (11. 9%) of the 42 families with breast/ovarian cancer who did not have BRCA1 and BRCA2 coding-region mutations had mutations in BRCA1 that were missed by conformation-sensitive gel electrophoresis or sequencing. Four of five families with BRCA1 genomic rearrangements included at least one individual with both breast and ovarian cancer; therefore, 4 (30.8%) of 13 families with a case of multiple primary breast and ovarian cancer had a genomic rearrangement in BRCA1. Families with genomic rearrangements had prior probabilities of having a BRCA1 mutation, ranging from 33% to 97% (mean 70%) (Couch et al. 1997). In contrast, in families without rearrangements, prior probabilities of having a BRCA1 mutation ranged from 7% to 92% (mean 37%). Thus, the prior probability of detecting a BRCA1 mutation may be a useful predictor when considering the use of Southern blot analysis for families with breast/ovarian cancer who do not have detectable coding-region mutations.
Indexed as
Identifiers
What OpenQuestion holds
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.