ArticleAmerican journal of human genetics1997
BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.
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. Cited by 34 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 167 citations in OpenAlex.
- Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.Pancreas · 2018Pooled it
- Genetic tests to identify risk for breast cancer.Seminars in oncology nursing · 2015Pooled it
- Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.Molecular biology reports · 2012Pooled it
- Testing for hereditary breast and ovarian cancer in the southeastern United States.Annals of surgery · 2000Trial
- Ancestry-specific predisposing germline variants in cancer.Genome medicine · 2020Article
- Germline Missense Variants inCancers · 2019Review
- Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.International journal of cancer · 2016Article
- The fallopian tube: from back stage to center stage.Cancer prevention research (Philadelphia, Pa.) · 2015Article
- Genetics of disc-related disorders: current findings and lessons from other complex diseases.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2014Review
- Loss of the BRCA1-interacting helicase BRIP1 results in abnormal mammary acinar morphogenesis.PloS one · 2013Article
- Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.Genetics and molecular biology · 2012Article
- The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.BMC cancer · 2012Article
- Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.Canadian family physician Medecin de famille canadien · 2012Article
- Surrogate genetics and metabolic profiling for characterization of human disease alleles.Genetics · 2012Article
- Modern trends into the epidemiology and screening of ovarian cancer. Genetic substrate of the sporadic form.Pathology oncology research : POR · 2012Review
- Triple-negative breast cancers: an updated review on treatment options.Current oncology (Toronto, Ont.) · 2011Article
- Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.Molecular oncology · 2009Review
- Recent advances in the understanding of the pathogenesis of serous carcinoma: the concept of low- and high-grade disease and the role of the fallopian tube.Diagnostic histopathology (Oxford, England) · 2008Article
- Article
- Screening women at increased risk with MRI.Cancer imaging : the official publication of the International Cancer Imaging Society · 2005Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
In order to evaluate the role of inherited BRCA2 mutations in American families--particularly the appearance in America of European founder mutations--the BRCA2 coding sequence, 5' UTR, and 3' UTR were screened in 22 Caucasian American kindreds with four or more cases of breast or ovarian cancer. Six mutations were found that cause a premature-termination codon; four of them have been reported elsewhere, and two are novel. In the four families with previously seen mutations, the distinct lineages at high risk of cancer were of Dutch, German, Irish, and Ashkenazi Jewish ancestry; mutations in Europe reflect these ancestries. The families with novel mutations were Puerto Rican Hispanic (exon 9 deletion 995delCAAAT) and Ashkenazi Jewish (exon 11 deletion 6425delTT). Among female BRCA2-mutation carriers, risks of breast cancer were 32% by age 50 years, 67% by age 70 years, and 80% by age 90 years, yielding a lifetime risk similar to that for BRCA1 but an older distribution of ages at onset. BRCA2 families also included multiple cases of cancers of the male breast (six cases), ovary (three cases), fallopian tube (two cases), pancreas (three cases), bladder (two cases), and prostate (two cases). Among 17 Ashkenazi Jewish families with four or more breast or ovarian cancers, 9 families (including 3 with ovarian cancer and 1 with male breast cancer) carried none of the three ancient mutations in BRCA1 or BRCA2. To date, both BRCA2 and BRCA1 have been screened by SSCA, supplemented by the protein-truncation test, in 48 families with four or more breast or ovarian cancers. Mutations have been detected in BRCA1 in 33 families, in BRCA2 in 6 families, and in neither gene in 9 families, suggesting both the probable cryptic nature of some mutations and the likelihood of at least one other BRCA gene.
Indexed as
Identifiers
9150150PMC1712449W1483922935What 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.