ArticleFamilial cancer2009
A high frequent BRCA1 founder mutation identified in the Greenlandic population.
Article in Familial cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Combination of 247 Genome-Wide Association Studies Reveals High Cancer Risk as a Result of Evolutionary Adaptation.Molecular biology and evolution · 2018Pooled it
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- The influence of meteorological factors and total malignant tumor health risk in Wuhu city in the context of climate change.BMC public health · 2023Article
- Association between hereditary predisposition to common cancers and congenital multimalformations.Congenital anomalies · 2020Article
- Review
- Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.Gene therapy · 2017Review
- Health effects associated with measured levels of contaminants in the Arctic.International journal of circumpolar health · 2016Article
- Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Article
- BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk.PloS one · 2015Article
- Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women.Environmental health : a global access science source · 2014Article
- Breast cancer in the Arctic--changes over the past decades.International journal of circumpolar health · 2012Review
- BRCA mutations in the management of breast cancer: the state of the art.Nature reviews. Clinical oncology · 2010Review
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 10% of all breast and ovarian cancers are dominantly inherited and mutations are mainly found in the BRCA 1 and 2 genes. The penetrance of BRCA1 mutations is reported to be between 68 and 92% and confers a 36-92% life time risk of breast cancer. Most mutations in BRCA1 are uniquely occurring mutations, but founder mutations have been described. In this study we describe a founder mutation with wide spread presence in the Inuit population. We have screened 2,869 persons from Greenland for the presence of a BRCA1 mutation (p.Cys39Gly) only found in the Inuit population. The overall carrier frequency was 1.6% in the general population, but the frequency differs geographically from 0.6% on the West coast to 9.7% in the previously isolated population of the East coast. This is to our knowledge the highest population frequency of a BRCA1 mutation ever to be described. To determine the clinical relevance of the mutation, we have examined ten breast cancer patients and nine ovarian cancer patients from Greenland for the presence of the p.Cys39Gly mutation. We found three ovarian cancer patients (33%) and one breast cancer patient (10%) carrying the mutation. The high number of women carrying a BRCA1 mutation known to trigger the development of potentially lethal diseases leads us to recommend an offer of genetic counselling and test for the mutation to all females of Inuit origin, thereby hopefully preventing a number of breast and ovarian cancer deaths.
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