ArticleAmerican journal of human genetics1997
BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03667417 (Genetic Predisposition to Breast and Ovarian Cancer), which is not on this map. Cited by 46 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.
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Cancer genetics services: a systematic review of the economic evidence and issues.British journal of cancer · 2004Pooled it
- Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.Familial cancer · 2012Trial
- New Insights Into c.815_824dup Pathogenic Variant ofFrontiers in oncology · 2021Review
- Evidence for an ancientNPJ genomic medicine · 2020Article
- BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.Human mutation · 2019Article
- Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.Hereditary cancer in clinical practice · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk inFrontiers in oncology · 2018Article
- Article
- Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.Ethnicity & disease · 2017Article
- Genomic Biomarkers for Breast Cancer Risk.Advances in experimental medicine and biology · 2016Review
- Deleterious BRCA1/2 mutations in an urban population of Black women.Breast cancer research and treatment · 2015Article
- Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.European journal of human genetics : EJHG · 2014Article
- Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.SpringerPlus · 2012Article
- Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Nucleic acids research · 2012Article
- Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.Oncology letters · 2011Article
- The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.BMC medical genetics · 2011Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection.Journal of experimental & clinical cancer research : CR · 2010Article
- Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.European journal of human genetics : EJHG · 2009Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An account of familial aggregation in breast/ovarian cancer has become possible with the identification of BRCA1 germ-line mutations. We evaluated, for 249 individuals registered with the Institut Curie in Paris, the prior probability that an individual carried a mutation that predisposes to these diseases. We chose 160 women for BRCA1 analysis: 103 with a family history of breast cancer and 57 with a family history of breast-ovarian cancer. To detect small mutations, we generated and analyzed 35 overlapping genomic PCR products that cover the coding portion of the gene, by using denaturing gradient gel electrophoresis. Thirty-eight truncating mutations (32 frameshifts, 4 nonsense mutations, and 2 splice variants) were observed in 15% of women with a family history of breast cancer only and in 40% of those with a history of breast-ovarian cancer. Twelve of 25 distinct truncating mutations identified were novel and unique. Most BRCA1 mutations that had been reported more than five times in the Breast Cancer Information Core were present in our series. One mutation (5149del4) observed in two apparently unrelated families most likely originates from a common ancestor. The position of truncating mutations did not significantly affect the ratio of the risk of breast cancer to that of ovarian cancer. In addition, 15 DNA variants (14 missense mutations and 1 neutral mutation) were identified, 9 of which were novel. Indirect evidence suggests that seven of these mutations are deleterious.
Indexed as
Identifiers
9150149PMC1712430W198350897What 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.