ArticleAmerican journal of human genetics1997
Study of a single BRCA2 mutation with high carrier frequency in a small population.
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 88 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
88 citing papers in PubMed, 3 syntheses or guidelines pooled it, 299 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Second cancers in patients with male breast cancer: a literature review.Journal of cancer survivorship : research and practice · 2008Pooled it
- 5-alpha Reductase Inhibitors and risk of male breast cancer: a systematic review and meta-analysis.International braz j urol : official journal of the Brazilian Society of UrologyPooled it
- Diagnostic plasma protein signatures in sporadic and BRCA1/2 breast cancer patients via targeted proteomics.Breast cancer research : BCR · 2026Article
- An international cohort study of breast cancer survival in young women.BJC reports · 2026Article
- The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer.Journal of clinical medicine · 2025Article
- Clinical aspect of male breast cancer: a burgeoning and unaddressed issue.Molecular biology reports · 2025Review
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.European journal of human genetics : EJHG · 2024Article
- Trends and Age-Period-Cohort Effect on Incidence of Male Breast Cancer from 1980 to 2019 in Taiwan and the USA.Cancers · 2024Article
- Breast Cancer in a Filipino Male: A Case Report and Brief Literature Review.Acta medica Philippina · 2024Article
- Male Breast Cancer: a Review on Diagnosis, Treatment, and Survivorship.Current oncology reports · 2024Review
- Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.NPJ breast cancer · 2023Article
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
- Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life science alliance · 2022Article
- Male Breast Cancer: An Updated Review of Epidemiology, Clinicopathology, and Treatment.Journal of oncology · 2022Review
- Article
- Genetic predisposition to male breast cancer in Poland.BMC cancer · 2021Article
- Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.Breast cancer research and treatment · 2021Article
- Analysis of ItalianCancers · 2021Article
- Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.BMC cancer · 2020Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line changes in the cancer-predisposition gene BRCA2 are found in a small proportion of breast cancers. Mutations in the BRCA2 gene have been studied mainly in families with high risk of breast cancer in females, and male breast cancer also has been associated with BRCA2 mutations. The importance of germ-line BRCA2 mutations in individuals without a family history of breast cancer is unknown. The same BRCA2 mutation has been found in 16/21 Icelandic breast cancer families, indicating a founder effect. We determined the frequency of this mutation, 999del5, in 1,182 Icelanders, comprising 520 randomly selected individuals from the population and a series of 632 female breast cancer patients (61.4% of patients diagnosed during the study period) and all male breast cancer patients diagnosed during the past 40 years. We detected the 999del5 germ-line mutation in 0.6% of the population, in 7.7% of female breast cancer patients, and in 40% of males with breast cancer. The mutation was strongly associated with onset of female breast cancer at age <50 years, but its penetrance and expression are varied. A number of cancers other than breast cancer were found to be increased in relatives of mutation carriers, including those with prostate and pancreatic cancer. Furthermore, germ-line BRCA2 mutation can be present without a strong family history of breast cancer. Comparison of the age at onset for mother/daughter pairs with the 999del5 mutation and breast cancer indicates that age at onset is decreasing in the younger generation. Increase in breast cancer incidence and lower age at onset suggest a possible contributing environmental factor.
Indexed as
Identifiers
9150155PMC1712443W2164459004What 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.