ArticleAmerican journal of human genetics1995
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 195 citations in OpenAlex.
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- Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas.JCO oncology practice · 2022Article
- RNF168-mediated localization of BARD1 recruits the BRCA1-PALB2 complex to DNA damage.Nature communications · 2021Article
- Review
- Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.Neuron · 2021Article
- BRCA1 Mutations in Cancer: Coordinating Deficiencies in Homologous Recombination with Tumorigenesis.Cancer research · 2020Review
- Evidence for an ancientNPJ genomic medicine · 2020Article
- Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.Cancer research and treatment · 2019Review
- A scalable, aggregated genotypic-phenotypic database for human disease variation.Database : the journal of biological databases and curation · 2019Article
- Small-Molecule Inhibitors Targeting DNA Repair and DNA Repair Deficiency in Research and Cancer Therapy.Cell chemical biology · 2017Review
- Characterization ofF1000Research · 2017Article
- RING domain-deficient BRCA1 promotes PARP inhibitor and platinum resistance.The Journal of clinical investigation · 2016Article
- Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Human mutation · 2016Article
- Unraveling heterogeneous susceptibility and the evolution of breast cancer using a systems biology approach.Genome biology · 2015Article
- The impact of Converso Jews on the genomes of modern Latin Americans.Human genetics · 2012Article
- Article
- Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Human mutation · 2011Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.Molecular oncology · 2009Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1. Twelve different germ-line mutations, four novel and eight previously observed, were detected in 16 families. Five families of Ashkenazi Jewish descent carried the 185delAG mutation and shared the same haplotype at eight polymorphic markers spanning approximately 850 kb at BRCA1. Expressivity of 185delAG in these families varied, from early-onset breast cancer without ovarian cancer. Mutation 4184delTCAA occurred independently in two families. In one family, penetrance was complete, with females developing early-onset breast cancer or ovarian cancer and the male carrier developing prostatic cancer, whereas, in the other family, penetrance was incomplete and only breast cancer occurred, diagnosed at ages 38-81 years. Two novel nonsense mutations led to the loss of mutant BRCA1 transcript in families with 10 and 6 cases of early-onset breast cancer and ovarian cancer. A 665-nt segment of the BRCA1 3'-UTR and 1.3 kb of genomic sequence including the putative promoter region were invariant by single-strand conformation analysis in 13 families without coding-sequence mutations. Overall in our series, BRCA1 mutations have been detected in 26 families: 16 with positive BRCA1 lod scores, 7 with negative lod scores (reflecting multiple sporadic breast cancers), and 3 not tested for linkage. Three other families have positive lod scores for linkage to BRCA2, but 13 families without detected BRCA1 mutations have negative lod scores for both BRCA1 and BRCA2.
Indexed as
Identifiers
8533757PMC1801403W1558788767What 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.