Biomedical subjects

Elzbieta Załuga

Publications and source records attributed to Elzbieta Załuga.

4 recordsLinked to original sources

PubMed2005

CDKN2A common variants and their association with melanoma risk: a population-based study.

The population frequencies of the CDKN2A variants remain undetermined. In Poland there are three common variants of CDKN2A: an alanine to threonine substitution (A148T), Nt500c>g and Nt540c>t, which have been detected in other populations. To establish if they are associated with an increased malignant melanoma (MM) risk we did an association study based on genotyping 471 patients with MM and 1,210 random control subjects from the same Polish population. We found a significantly increased frequency of the A148T variant among patients with MM (7.0%) in comparison with the general population (2.9%). The incidence of the A148T variant remained greater in both unselected and familial melanoma subgroups. A statistically significant positive association was seen for unselected MM (odds ratio, 2.529; P = 0.0003), especially in patients diagnosed under 50 years of age (odds ratio, 3.4; P = 0.0002). The A148T carrier population (heterozygous G/A alleles) was more likely to have a relative with malignancy compared with the noncarrier population (57% versus 36%, respectively; P = 0.03). Further examination of the CDKN2A promoter sequence done in 20 melanoma patients with the A148T change (heterozygous G/A alleles) and 20 patients with MM without this alteration identified it was in linkage disequilibrium with a polymorphism in the promoter region at position P-493. We found no statistically significant overrepresentation of the Nt500c>g and the Nt540c>t polymorphisms in the Polish melanoma population. In conclusion, the A148T variant of the CDKN2A gene seems to be associated with an increased risk of development of MM. Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies.

Adult↗

PubMed2005

[Protection of the skin from harmful ultraviolet radiation].

Ultraviolet radiation from the sun or artificial sources can exert beneficial and/or damaging effect on human skin. Excessive UV radiation has been implicated in the increased incidence of skin malignancies and accelerated skin photoaging. Thus, the skin requires adequate protection and sunscreens are useful for this purpose. Physical (inorganic) and chemical (organic) filters protect the skin from the action of both UVA and UVB. Apart from sunscreens, avoidance of excessive exposure to sunlight is the most important recommendation to protect the skin.

Environmental Exposure↗

PubMed2005

[Physiological skin changes during pregnancy].

Associated with pregnancy skin changes appear at approximately 90% pregnant. For the necessity of proper and complex care of the pregnant woman. The actualization of this knowledge among the family doctors and the obstetricians is crucial. The ability of precise diagnosis of physiological skin changes allows specifying the suspected cases of pathologic etiology and referring them to the dermatological referral centers for in-depth diagnosis and eventual treatment. The physiologic changes of skin appendies were discussed in the presented paper, vascular alterations color, as well as the generative alterations and the changes in the skin.

Adult↗

PubMed2003

Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.

In this study we determined in what proportion of consecutive malignant melanoma (MM) cases the 657del5 mutation of exon 6 of the NBS1 gene can be detected and whether it is associated with the occurrence of MM. Two groups of patients were studied: a series of 80 consecutive patients with histologically confirmed MM of the skin diagnosed in the city of Szczecin, Poland, and a series of 530 consecutive individuals selected at random by family doctors from the city of Szczecin. Molecular examination included an allele-specific polymerase chain reaction assay for the NBS1 founder mutation (657del5), genomic sequencing, loss of heterozygosity analysis using CA-repeat microsatellite markers, and haplotype analysis. The NBS1 founder mutation was detected in two of the 80 (2.5%) MM cases and in three of the 530 individuals (0.6%) from the general population. The difference was not statistically significant. However, examination of tumorous DNA from the patients with MM and NBS1 mutation revealed loss of heterozygosity in both cases. Haplotype analysis revealed that allellic loss affects wild-type alleles. Breast cancer was found in second-degree relatives of both MM probands with NBS1 mutations. One of these probands was simultaneously affected with breast cancer. It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives.

Adolescent↗