European ancestry and cutaneous melanoma in Southern Brazil

Bakos, Lúcio; Masiero, N. C. M. S.; Bakos, Renato Marchiori; Burttet, Renata M.; Wagner, Mário Bernardes; Benzano, Daniela

doi:10.1111/j.1468-3083.2008.03027.x

Cited by 28 publications

(28 citation statements)

References 14 publications

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“…A study of the California Cancer Registry found that the annual age-adjusted incidence of melanoma cases per 100,000 people was 0.8-0.9 for Asians, 0.7-1.0 for African Americans, and 11.3-17.2 for Caucasians (35). Melanoma incidence in admixed Hispanics is strongly correlated with European ancestry (33)(34)(35).…”

Section: Discussionmentioning

confidence: 99%

“…The mutation types CCC → CTC and TCT → TTT, two other candidates for rate acceleration in Europe, are also prominent in the spectrum of melanoma (SI Appendix, section 11). Incidentally, melanoma is not only associated with UV light exposure but also with European ancestry, occurring at very low rates in Africans, African Americans, and even light-skinned Asians (32)(33)(34). A study of the California Cancer Registry found that the annual age-adjusted incidence of melanoma cases per 100,000 people was 0.8-0.9 for Asians, 0.7-1.0 for African Americans, and 11.3-17.2 for Caucasians (35).…”

Section: Discussionmentioning

confidence: 99%

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Evidence for recent, population-specific evolution of the human mutation rate

Harris

2015

Proc. Natl. Acad. Sci. U.S.A.

177

231

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As humans dispersed out of Africa they adapted to new environmental challenges, including changes in exposure to mutagenic solar radiation. Humans in temperate latitudes have acquired light skin that is relatively transparent to UV light, and some evidence suggests that their DNA damage response pathways have also experienced local adaptation. This raises the possibility that different populations have experienced different selective pressures affecting genome integrity. Here, I present evidence that the rate of a particular mutation type has recently increased in the European population, rising in frequency by 50% during the 40,000–80,000 y since Europeans began diverging from Asians. A comparison of SNPs private to Africa, Asia, and Europe in the 1000 Genomes data reveals that private European variation is enriched for the transition 5′-TCC-3′ → 5′-TTC-3′. Although it is not clear whether UV played a causal role in changing the European mutational spectrum, 5′-TCC-3′ → 5′-TTC-3′ is known to be the most common somatic mutation present in melanoma skin cancers, as well as the mutation most frequently induced in vitro by UV. Regardless of its causality, this change indicates that DNA replication fidelity has not remained stable even since the origin of modern humans and might have changed numerous times during our recent evolutionary history.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evidence for recent, population-specific evolution of the human mutation rate

Harris

2015

Proc. Natl. Acad. Sci. U.S.A.

177

231

View full text Add to dashboard Cite

show abstract

“…Our findings also show, that besides the important cutaneous melanoma incidence gap between these two southern countries ( Figure 3), São Paulo, has the highest cutaneous melanoma incidence rates within Latin America. There are several possible considerations for these findings: Brazil, especially São Paulo and the Southern States, have experienced centuries of immigration, mostly from European countries 42 , with unique racial miscegenation 13 ; the city is at an altitude of 790 m or 2,592 ft and approximately 80 kilometers/50 miles from the coast, facilitating intermittent sun exposure habits (weekends, holidays and vacation) of its inhabitants 43,44,45 ; and it is a big urban cluster with an abundant concentration of high-rise buildings and radio frequency electromagnetic radiation that may have an effect on the immune defense system, cell repair and apoptosis mechanisms 45,46 .…”

Section: Discussionmentioning

confidence: 99%

Cutaneous melanoma in Latin America: a population-based descriptive study

Sortino¹,

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Cancela

2011

Cad. Saúde Pública

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“…http://dx.doi.org/10.1101/010314 doi: bioRxiv preprint first posted online Oct. 14, 2014; European ancestry, occurring at very low rates in Africans, African Americans, and even lightskinned Asians [32,33,34]. A study of the California Cancer Registry found that the annual age-adjusted incidence of melanoma cases per 100,000 people was 0.8-0.9 for Asians, 0.7-1.0 for African Americans, and 11.3-17.2 for Caucasians [35].…”

Section: Cc-by-nc-nd 40 International License Peer-reviewed) Is the mentioning

confidence: 99%

“…A study of the California Cancer Registry found that the annual age-adjusted incidence of melanoma cases per 100,000 people was 0.8-0.9 for Asians, 0.7-1.0 for African Americans, and 11.3-17.2 for Caucasians [35]. Melanoma incidence in admixed Hispanics is strongly correlated with European ancestry [35,33,34].…”

Section: Cc-by-nc-nd 40 International License Peer-reviewed) Is the mentioning

confidence: 99%

Recent evolution of the mutation rate and spectrum in Europeans

Harris

2014

Preprint

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As humans dispersed out of Africa, they adapted to new environmental challenges including changes in exposure to mutagenic solar radiation. Humans in temperate latitudes have acquired light skin that is relatively transparent to ultraviolet light, and some evidence suggests that their DNA damage response pathways have also experienced local adaptation. This raises the possibility that different populations have experienced different selective pressures affecting genome integrity. Here, I present evidence that the rate of a particular mutation type has recently increased in the European population, rising in frequency by 50% during the 40,000-80,000 years since Europeans began diverging from Asians. A comparison of single nucleotide polymorphisms (SNPs) private to Africa, Asia, and Europe in the 1000 Genomes data reveals that private European variation is enriched for the transition 5'-TCC-3'→5'-TTC-3'. Although it is not clear whether UV played a causal role in the changing the European mutational spectrum, 5'-TCC-3'→5'-TTC-3' is known to be the most common somatic mutation present in melanoma skin cancers, as well as the mutation most frequently induced in vitro by UV. Regardless of its causality, this change indicates that DNA replication fidelity has not remained stable even since the origin of modern humans and might have changed numerous times during our recent evolutionary history.

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European ancestry and cutaneous melanoma in Southern Brazil

Abstract: Some European ancestries, especially German and Italian, seem to be associated to a higher risk of CM in this sample from Southern Brazil. On the other hand, Brazilian indigenous ancestry presented as a protection factor against developing the tumour.

Cited by 28 publications

References 14 publications

Evidence for recent, population-specific evolution of the human mutation rate

Evidence for recent, population-specific evolution of the human mutation rate

Cutaneous melanoma in Latin America: a population-based descriptive study

Recent evolution of the mutation rate and spectrum in Europeans

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