Pregled bibliografske jedinice broj: 124224
Alterations in CDKN2A Locus as Potential Indicator of Melanoma Predisposition in Relatives of Non-Familial Melanoma Cases
Alterations in CDKN2A Locus as Potential Indicator of Melanoma Predisposition in Relatives of Non-Familial Melanoma Cases // Croatian medical journal, 44 (2003), 4; 418-424 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 124224 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Alterations in CDKN2A Locus as Potential Indicator of Melanoma Predisposition in Relatives of Non-Familial Melanoma Cases
Autori
Levanat, Sonja ; Šitum, Mirna ; Crnić, Ivana ; Marasović, Dujomir ; Puizina-Ivić, Neira ; Pokupčić, Nikola ; Musani, Vesna ; Komar, Arijana ; Kubat, Milovan ; Furač, Ivana ; Karija-Vlahović, Monika ; Križanac, Šimun
Izvornik
Croatian medical journal (0353-9504) 44
(2003), 4;
418-424
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
alleles ; genes ; p16 ; genetic predisposition to disease ; genetic screening ; melanoma
Sažetak
Aim. To examine constitutional alterations of CDKN2A, p16INK4A locus as potential indicator of melanoma predisposition among the first-degree relatives of patients with malignant melanoma. Method. The study included eight families with a single member affected with melanoma. Members of the families were screened for allelic cosegregation with 9p21 region polymorphic markers IFNA, D9S126, and D9S104. The patient's tumores were screened for loss of heterozygosity (LOH) with the same markers, as well as for single strand conformational polymorphism (SSCP) variability of CDKN2A. In suspect cases, constitutional DNA was examined by SSCP and direct sequencing. Results. LOH was detected in four cases, and SSCP indicated variability in at least one CDKN2A exon in these tumor samples. In three of four LOH cases, the remaining allele cosegregated within the family, which was interpreted as a preliminary indicator of potential genetic predisposition. In one of these three families, we found constitutional CDKN2A mutations in the patient and one of the relatives. In the second family, only the patient had the constitutionally altered gene, whereas no constitutional CDKN2A alterations were detected in the third family. All significant mutations were different and had not been reported before. Conclusions. We detected one case of melanoma predisposition among unaffected family members, which corresponded to statistical expectations for such a small number of screened families. Since constitutional mutations of CDKN2A exons have limited incidence, our stepwise approach seemed to be more informative and more affordable than straightforward CDKN2A sequencing of all subjects.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
POVEZANOST RADA
Ustanove:
Institut "Ruđer Bošković", Zagreb
Profili:
Arijana Zorić
(autor)
Mirna Šitum
(autor)
Vesna Musani
(autor)
Ivana Crnić
(autor)
Milovan Kubat
(autor)
Sonja Levanat
(autor)
Šimun Križanac
(autor)
Monika Karija
(autor)
Neira Puizina Ivić
(autor)
Dujomir Marasović
(autor)
Ivana Furač
(autor)
Monika Karija Vlahović
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE