ArticleAmerican journal of human genetics1997
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?
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 46 papers, 2 of them syntheses that pooled it.
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
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis.Familial cancer · 2024Pooled it
- Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. UK Cancer Family Study Group (UKCFSG).Journal of medical genetics · 2000Guideline
- Characteristics of 1270 Chinese sibling pairs with cancer.BMC cancer · 2021Article
- Article
- Loss of the BRCA1-interacting helicase BRIP1 results in abnormal mammary acinar morphogenesis.PloS one · 2013Article
- The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.BMC cancer · 2012Article
- KIAA0101 interacts with BRCA1 and regulates centrosome number.Molecular cancer research : MCR · 2011Article
- [Examples of screening investigations].Der Internist · 2008Review
- Influence of germline polymorphisms of GSTT1, GSTM1, and GSTP1 in familial versus sporadic breast cancer susceptibility and survival.Familial cancer · 2008Article
- Genetic susceptibility to breast cancer.Reviews in endocrine & metabolic disorders · 2007Review
- Breast MR imaging in women at high-risk of breast cancer. Is something changing in early breast cancer detection?European radiology · 2007Review
- Identification of a founder BRCA2 mutation in Sardinian breast cancer families.Familial cancer · 2007Article
- Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.BMC medical genetics · 2006Article
- Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.BMC cancer · 2006Article
- BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.Familial cancer · 2006Review
- Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges.Familial cancer · 2006Review
- Oligogenic combinations associated with breast cancer risk in women under 53 years of age.Human genetics · 2005Article
- High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.Breast cancer research : BCR · 2005Article
- Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers.Familial cancer · 2005Article
- Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer.British journal of cancer · 2004Article
Corrections and comments
- Commented on by
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions of both genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. A combination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles. Six of the eight families with male breast cancer revealed frameshift mutations, two in BRCA1 and four in BRCA2. Although most families with female site-specific breast cancers were thought to be due to mutations in either BRCA1 or BRCA2, we identified only eight mutations in our series of 23 site-specific female breast cancer families (34%), four in BRCA1 and four in BRCA2. According to the posterior probabilities calculated for mutation-negative families, based on linkage data and mutation screening results, we would expect 8-10 site-specific female breast cancer families of our series to be due to neither BRCA1 nor BRCA2. Thus, our results suggest the existence of at least one more major breast cancer-susceptibility gene.
Indexed as
Identifiers
9042907PMC1712515W1509664278What 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.