A high frequent BRCA1 founder mutation identified in the Greenlandic population

Harboe, Theresa Larriba; Eiberg, Hans; Kern, Peder; Ejlertsen, Bent; Nedergaard, Lotte; Timmermans-Wielenga, Vera; Nielsen, I. Møller; Bisgaard, Marie Luise

doi:10.1007/s10689-009-9257-5

Cited by 25 publications

(17 citation statements)

References 33 publications

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“…Most mutations in BRCA1 are uniquely occurring mutations, but a specific founder mutation in Greenlandic Inuit has been found and described in two different studies (11,12). Founder mutations appear in the DNA of one or more individuals who are founders of a distinct population.…”

Section: Ad 2: Genetic Susceptibilitymentioning

confidence: 99%

“…These mutations occur all over the world and in Greenland a specific founder mutation has been identified. Recent studies have shown a high frequency of this BRCA1 founder mutation, especially at the East coast of Greenland with the highest population frequency of a BRCA1 mutation ever described (11,12). These findings suggest that genetics is a potential risk factor associated to the risk of developing BC in Inuit women in certain parts of Greenland.…”

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confidence: 99%

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Breast cancer in the Arctic – changes over the past decades

Fredslund

Bonefeld-Jörgensen

2012

International Journal of Circumpolar Health

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The purpose of this study is to review the current literatures on breast cancer (BC) in the Arctic, especially the trends in incidence during the last decades and the possible explanations. The design of this study is a literature review. The scientific literature concerning BC were reviewed, especially focusing on the Arctic and the special conditions that exist in this region. Breast cancer incidence is increasing all over the world, including in the Arctic. The enormous transition in health conditions and lifestyle in the Arctic might be contributing to the known risk factors. In Greenland, the age at menarche has diminished by 3 years during the course of 100 years, and the number of children per women as well as the duration of breastfeeding is decreasing. Obesity and intake of saturated fat is increasing and the intake of traditional food rich in unsaturated fat and vitamin D decreasing. Smoking and alcohol consumption in the Arctic has been relatively high but is now decreasing. More focus on genetic susceptibility in relation to BC has identified the specific BRCA1 founder mutation in the Greenlandic population, which might appear to be an important risk factor. However, the known established risk factors alone cannot account for the increasing trend observed. Studies suggest that environmental contaminants such as persistent organic pollutants (POPs) including perfluorinated compounds increase the risk of BC possibly in conjunction with certain genetic polymorphisms involved in carcinogen activation. The lipophilic POPs such as polychlorinated biphenyls and organochlorine pesticides are found at very high levels in the Arctic population. Several factors can explain the increasing incidence of BC in the Arctic. The transition in lifestyle and health conditions unfortunately increases the known risk factors of BC. Moreover, the population of the Arctic might show up to be especially vulnerable because of the contemporary high burden of POPs and genetic susceptibility.

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Section: Ad 2: Genetic Susceptibilitymentioning

confidence: 99%

mentioning

confidence: 99%

Breast cancer in the Arctic – changes over the past decades

Fredslund

Bonefeld-Jörgensen

2012

International Journal of Circumpolar Health

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“…The prevalence of BRCA1 and BRCA2 mutations combined is approximately 0.3% in North America (12–17), but may be higher than this in countries or populations where there are founder mutations, such as Israeli Jews (18–20), Dutch (21), French-Canadians (22), Icelandic (23), Greenlandic (24), Polish (25), Russia and Eastern European (26–30) and Greek populations (31–32). Recurrent mutations have also been described in women of Hispanic origin in the United States (33–38).…”

Section: Introductionmentioning

confidence: 99%

Recurrent BRCA1 and BRCA2 Mutations in Mexican Women with Breast Cancer

Torres-Mejı́a

Royer

Llacuachaqui

et al. 2015

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background Germline mutations in the BRCA1 and BRCA2 genes confer an estimated 58–80% lifetime risk of breast cancer. In general, screening is done for cancer patients if a relative has been diagnosed with breast or ovarian cancer. There are few data on the prevalence of mutations in these genes in Mexican women with breast cancer and this hampers efforts to develop screening policies in Mexico. Methods We screened 810 unselected women with breast cancer from three cities in Mexico (Mexico City, Veracruz and Monterrey) for mutations in BRCA1 and BRCA2, including a panel of 26 previously reported mutations. Results Thirty-five mutations were identified in 34 women (4.3% of total) including 20 BRCA1 mutations and 15 BRCA2 mutations. Twenty-two of the 35 mutations were recurrent mutations (62.8%). Only five of the 34 mutation carriers had a first-degree relative with breast cancer (three with BRCA1 and two with BRCA2 mutations). Conclusion These results support the rationale for a strategy of screening for recurrent mutations in all women with breast cancer in Mexico, as opposed to restricting screening to those with a sister or mother with breast or ovarian cancer. Impact These results will impact cancer genetic testing in Mexico and the identification of at-risk individuals who will benefit from increased surveillance.

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“…About 10% of all breast and ovarian cancers are dominantly inherited mainly by mutations in the BRCA1 and BRCA2 genes. Harboe et al (169) found three patients out of nine with ovarian cancer (33%), and one out of 10 breast cancer patients (10%) carrying the BRCA1 mutation in Greenland. Risk of prostate cancer in Inuit is 10–20% of the risk in the respective national white population (161,170).…”

Section: Contaminant Exposure and Cancer Risk In Arctic Regionsmentioning

confidence: 99%

Health effects associated with measured levels of contaminants in the Arctic

Weihe

Debes

Halling

et al. 2016

International Journal of Circumpolar Health

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The Human Health Assessment Group has over the past decade recommended that effect studies be conducted in the circumpolar area. Such studies examine the association between contaminant exposure in the Arctic populations and health effects. Because foetuses and young children are the most vulnerable, effect studies are often prospective child cohort studies. The emphasis in this article is on a description of the effects associated with contaminant exposure in the Arctic. The main topics addressed are neurobehavioural, immunological, reproductive, cardiovascular, endocrine and carcinogenic effect. For each topic, the association between exposure and effects is described, and some results are reported for similar studies outside the Arctic.

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A high frequent BRCA1 founder mutation identified in the Greenlandic population

Cited by 25 publications

References 33 publications

Breast cancer in the Arctic – changes over the past decades

Breast cancer in the Arctic – changes over the past decades

Recurrent BRCA1 and BRCA2 Mutations in Mexican Women with Breast Cancer

Health effects associated with measured levels of contaminants in the Arctic

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