ArticleCancer research2008
The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.
Article in Cancer research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 102 citations in OpenAlex.
- Germline predisposition in multiple myeloma.iScience · 2025Article
- Characterization of BRCA Deficiency in Ovarian Cancer.Cancers · 2023Article
- A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.Familial cancer · 2022Article
- Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.Breast cancer (Tokyo, Japan) · 2021Review
- Article
- Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.Diagnostics (Basel, Switzerland) · 2021Article
- Breast MRI texture analysis for prediction of BRCA-associated genetic risk.BMC medical imaging · 2020Article
- Analysis of 3297 individuals suggests that the pathogenic germline 5'-UTR variant BRCA1 c.-107A > T is not common in south-east Germany.Familial cancer · 2020Article
- Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.Reproductive biology and endocrinology : RB&E · 2020Review
- Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.Genome medicine · 2019Article
- Article
- Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients.PloS one · 2019Article
- Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.Journal of genetic counseling · 2018Article
- A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.American journal of human genetics · 2018Article
- Mutational analysis ofMolecular genetics & genomic medicine · 2017Article
- A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.British journal of cancer · 2017Article
- Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.Breast cancer research and treatment · 2017Article
- How, who, and when: preferences for delivery of genome sequencing results among women diagnosed with breast cancer at a young age.Molecular genetics & genomic medicine · 2016Article
- Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.Clinical genetics · 2016Article
- Health Behaviors and Associated Sociodemographic Factors in Cervical Cancer Survivors Compared with Matched Non-Cancer Controls.PloS one · 2016Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
The demand for BRCA1 and BRCA2 mutation screening is increasing as their identification will affect medical management. However, both the contribution of different mutation types in BRCA1 and BRCA2 and whom should be offered testing for large genomic rearrangements have not been well established in the U.S. high-risk population. We define the prevalence and spectrum of point mutations and genomic rearrangements in BRCA genes in a large U.S. high-risk clinic population of both non-Ashkenazi and Ashkenazi Jewish descent, using a sample set representative of the U.S. genetic testing population. Two hundred fifty-one probands ascertained through the University of Pennsylvania high-risk clinic, all with commercial testing for BRCA1 and BRCA2, with an estimated prevalence of BRCA mutation >or=10% using the Myriad II model and a DNA sample available, were studied. Individuals without deleterious point mutations were screened for genomic rearrangements in BRCA1 and BRCA2. In the 136 non-Ashkenazi Jewish probands, 36 (26%) BRCA point mutations and 8 (6%) genomic rearrangements (7 in BRCA1 and 1 in BRCA2) were identified. Forty-seven of the 115 (40%) Ashkenazi Jewish probands had point mutations; no genomic rearrangements were identified in the group without mutations. In the non-Ashkenazi Jewish probands, genomic rearrangements constituted 18% of all identified BRCA mutations; estimated mutation prevalence (Myriad II model) was not predictive of their presence. Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%.
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