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The article has been written for the occasion of 25 Anniversary of Gliwice Scientific Meetings (GSN). For this reason, I am going to present scientific contacts of the Institute of Oncology at Gliwice with the Institute of Human Genetics of the Polish Academy of Sciences at Poznań not only at conference occasions but also in regular research manner. [ABSTRACT FROM AUTHOR]

Amusia also known as tone deafness affects roughly 1.5% population. Congenital amusia appears from birth and lasts over life span. Usually, it is not associated with other diseases. Its link to hearing impairment has been definitively excluded. Neurobiological studies point to asymmetrical processing of musical signals in auditory cortex of left and right brain hemispheres. The finding was supported by discovering microlesions in the right-side gray matter. Because of its connection with asymmetry, amusia has been classified to disconnection syndromes. Alternatively to the neurobiological explanation of amusia background, an attention was turned to the significance of genetic factors. The studies done on relatives and twins indicated familial aggregation of amusia. Molecular genetic investigations linked amusia with deletion of 22q11.2 chromosome region. Until now no specific genes responsible for development of amusia were found. [ABSTRACT FROM AUTHOR]

Etiology of Méniere's disease recognized over 150 years ago and known as pathology of inner ear has still not been sufficiently explained. The key symptoms include recurrent vertigo, tinnitus and fluctuating hearing loss and ear fullness. Biological studies on its pathophysiology were focused on formation of hydrops followed by damage of inner ear structure and incorrectness in electrolyte transportation. Genetic studies identified a number of genes and their polymorphic variants associated with particular symptoms of Méniere's disease. The findings indicate for disease heterogeneity connected with multigenic background. [ABSTRACT FROM AUTHOR]

Purpose of review: Observational studies have shown that serum 25-OH vitamin D [25(OH)D] is inversely associated with overall cancer risk in many malignancies. We performed a systematic literature review to determine whether vitamin D deficiency is related to head and neck cancer (HNC) etiology and outcome. Recent findings: The search yielded five prospective studies reporting 25(OH)D levels prior to cancer diagnosis and their effect on the risk of HNC. Eight studies were cross-sectional or case-control studies, in which 25(OH)D levels were only measured after cancer diagnosis. Two studies found an inverse association between 25(OH)D level and HNC risk, while two other prospective cohort studies demonstrated no connection between 25(OH)D and HNC risk. Several studies reported cancer patients to have significantly lower 25(OH)D levels than controls. Associations between 25(OH)D and prognosis and mortality were variable. Summary: The link between vitamin D and HNC has so far only been investigated in a few observational, prospective, and case-control studies. Vitamin D deficiency may be more common in HNC patients than in the healthy population. There is no evidence for a causal relationship. Further studies are needed to evaluate whether low 25(OH)D concentrations play a role in the development or outcome of HNCs. [ABSTRACT FROM AUTHOR]

There is an agreement about joint genetic and environmental background of musical reception and performance. Musical abilities tend to cluster in families. The studies done on a random population, twins and families of gifted musicians provided a strong support for genetic contribution. Modern biomolecular techniques exploring linkage analysis, variation of gene copy number, scanning for whole-genome expression helped to identify genes, or chromosome regions associated with musical aptitude. Some studies were focused on rare ability to recognize tone without reference that is known as a perfect pitch where a far ethnic differentiation was established. On the other hand, gene deletion leading to dysfunction in amusical individuals also indicated appropriate loci "by negation." The strongest support for an association of genes with musicality was provided for genes: AVPR1 (12q14.2), SLC6A4 (17q11.2), GALM (2p22), PCDH7 (4p15.1), GATA2 (3q21.3), and few others as well for 4q22, 4q23, and 8q13–21 chromosome bands. [ABSTRACT FROM AUTHOR]

Absolute pitch is an ability to recognize and correctly name the pitch without external reference. The studies on absolute pitch incidence in families have shown familial association indicating further on significance of genetics factor connected with non-Mendelian inheritance. The finding was derived from population and molecular studies. The latter studies indicated for chromosome region 8q24.21 and for to a lower extent on 7q22.3, 8q21.11 and 9p21.3. Absolute pitch incidence depends on ethnicity and as such is more frequent in Far East Asia then in Western World. Then a frequency of absolute pitch declines with an age. Early musical training appears to consolidate absolute pitch in further life. Altogether, absolute pitch seems to be dependent both an genetic and environment factors. [ABSTRACT FROM AUTHOR]

Genomic and mitochondrial DNA molecules are exposed continuously for a damaging activity of chemical, physical, and internal genotoxicants. When DNA repair machinery is not working efficiently, the generation of DNA lesions and mutations leads to carcinogenic transformation. The high number of mutation going up to 105 per cell was recognized as a driving force of oncogenesis. Moreover, a high activity of DNA repair genes was hypothesized as a predisposition to metastasis. DNA repair potential has to be taken into account attempting to chemo- and/or radiotherapy. A low activity of DNA repair genes makes tumor cells more sensitive to therapy, but on the other hand, non-tumor cells getting lesions could form second primary cancer. Contrary, high activity of DNA repair genes counteracts attempted therapy. It means an individualized therapy based on recognition of DNA repair potential is recommended. [ABSTRACT FROM AUTHOR]

The objective of the review was to compare molecular and health effects of tobacco smoking using cigars, cigarillos, pipe and water pipe in relation to the effects of cigarette smoking. In this review we will focus on the upper respiratory tract. Mechanisms of interaction of tobacco smoke constituents after products other than cigarettes are similar to these associated with cigarette smoking. Carcinogenic activity was demonstrated for any type of tobacco smoking, although the risk of developing head and neck squamous cell carcinoma (HNSCC) remains lower in users of cigars, traditional pipe and water pipe as compared to cigarette smoking. Nevertheless, there is no way of safe tobacco smoking. [ABSTRACT FROM AUTHOR]

Recent years a number of cigarette smokers is declining. A part of ex-smokers decided to use e-cigarette nit containing tobacco. We provide a comparison of tobacco smoke and e-cigarette aerosol in respect to chemical composition, toxicity and carcinogenicity. It is stressed that all thy studied parameters were considerably lower in aerosol. The publications dealing with cancer risk following e-cigarettes smoking are not supported by broad epidemiologic data. Altogether, there appeared a hope for reduction of tobacco-smoke associated cancer. [ABSTRACT FROM AUTHOR]

Meniere's disease (MD) as an inner ear disorder including such symptoms as recurrent vertigo attacks, tinnitus, fluctuating or progressive sensorineural hearing loss. Its relatively frequent familial incidence implicates a genetic background. An autosomal dominant inheritance was commonly observed with a few exceptions. It was established that Meniere's disease is not a monogenic disorder. Instead a group of genes of genomic and mitochondrial genes was established as determinants of hearing loss. Another group of genes was associated with inner ear (vestibulum, labyrinth, endolymph) alterations followed by dizziness and tinnitus. Altogether, many studies suggest a multigenic interaction to predispose to develop Meniere's disease. [ABSTRACT FROM AUTHOR]

In recent years there are observed substantial changes in epidemiology of head and neck cancer. An incidence of laryngeal cancer is declining as a consequence of decreased tobacco smoking. Contrary, oropharyngeal cancer associated with HPV infection transmitted on sexual way is becoming much more frequent. The latter one is characterized with a better prognosis that most likely does not require intensive therapy. De-escalation of therapy in case of HPV-associated tumor is a matter of current studies. [ABSTRACT FROM AUTHOR]

Cellular processes like differentiation, mitotic cycle, and cell growth are regulated by tyrosine kinases with known oncogenic potential and tyrosine phosphatases that downmodulate the first. Therefore, tyrosine phosphatases are recurrent targets of gene alterations in human carcinomas. We and others suggested recently a tumor suppressor function of the PTPRD tyrosine phosphatase and reported homozygous deletions of the PTPRD locus in laryngeal squamous cell carcinoma. In this study, we investigated other gene-inactivating mechanisms potentially targeting PTPRD, including loss-of-function mutations and also epigenetic alterations like promoter DNA hypermethylation. We sequenced the PTPRD gene in eight laryngeal squamous cell carcinoma cell lines but did not identify any inactivating mutations. In contrast, by bisulfite pyrosequencing of the gene promoter region, we identified significantly higher levels of methylation (p = 0.001 and p = 0.0002, respectively) in 9/14 (64%) laryngeal squamous cell carcinoma cell lines and 37/79 (47%) of primary laryngeal squamous cell carcinoma tumors as compared to normal epithelium of the upper aerodigestive tract. There was also a strong correlation (p = 0.0001) between methylation and transcriptional silencing for the PTPRD gene observed in a cohort of 497 head and neck tumors from The Cancer Genome Atlas dataset suggesting that DNA methylation is the main mechanism of PTPRD silencing in these tumors. In summary, our data provide further evidence of the high incidence of PTPRD inactivation in laryngeal squamous cell carcinoma. We suggest that deletions and loss-of-function mutations are responsible for PTPRD loss only in a fraction of cases, whereas DNA methylation is the dominating mechanism of PTPRD inactivation. [ABSTRACT FROM AUTHOR]