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• W2037333346 abstract "Aims To verify the effectiveness of clinical follow-up of melanoma patients and families who undergo genetic counseling and testing for mutations in the CDKN2A and CDK4 genes. Patients and methods Cases recruited were familial melanoma patients referring to the Medical Genetics Outpatient Service at DOBiG in Genoa, Italy, from 01/01/1994 to 31/12/2001. A total of 66 families were recruited. After receiving genetic counseling and providing their informed consent, patients underwent accurate dermatological examination to determine phototype and AMS score. Blood samples were then taken for DNA testing to establish whether patients carried mutations in the CDKN2A and CDK4 genes, which are the 2 major melanoma susceptibility genes. Probands for whom familial transmission of the disease was verified underwent an educational session on their genetic susceptibility, on sun exposure and on the risk associated with sunburns during childhood and teenage years. Moreover, the usefulness of involving relatives in the study was explained, as this may lead to early diagnosis and timely excision of malignant pigmented lesions. Printed material was also provided during the sessions. Relatives who subsequently agreed to join the study underwent the same procedure. Complete follow-up of the families lasted for a minimum of 1 year to a maximum of 8 years. Another set of 17 mutation-positive patients also came for counseling after being enrolled at the National Institute for Cancer Research (IST) in Genoa within the context of a research project aimed at evaluating the frequency of CDKN2A mutations in clinically sporadic melanoma. This study was approved by the IST Ethics Committee. Results None of the probands harbored mutations in the CDK4 gene. Among the 66 families 21 harbored mutations in the CDKN2A gene. A total of 1 melanoma case among probands' relatives, 3 new melanomas in probands and 3 other tumors (1 case of rectal cancer, 2 cases of breast cancer) were diagnosed in both groups during follow-up of the 21 CDKN2A-positive families. All the malignant pigmented lesions were either early or thinner than 0.75 mm. Among the 45 wild-type families we found 1 case of early melanoma in a first degree relative of a proband, 2 cases of melanoma in probands and 3 other tumors (pancreatic cancer, gastric cancer and breast cancer) in both groups. Moreover, we decided to study the 17 sporadic CDKN2A mutation carriers, as their families accepted to join the study and attend follow-up. After interviews and clinical examinations of relatives, excision of malignant pigmented lesions were performed in the families of 3 probands who were then considered to be familial. Thus, a total of 24 families out of 69 and 14 sporadic patients were found to harbor CDKN2A mutations. We then looked at the thickness of lesions in the different sets of patients. We compared the thickness of melanomas diagnosed in probands' relatives before and after genetic counseling, and found an average of 1.25 mm vs 0.11 mm. A thinner Breslow level was also found comparing the total of lesions excised before and after genetic counseling (1.24 mm vs. 0.35 mm) both in probands and their relatives. For this analysis we used the Mann–Whitney Test, which in these cases, proved to be statistically significant. Conclusions These results emphasize how genetic counseling may facilitate early diagnosis through subsequent follow-up of patients, dissemination of information and increased awareness among families. In turn, early diagnosis ensures that excision is performed in a timely and curative manner." @default.
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• W2037333346 date "2004-04-01" @default.
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• W2037333346 title "Genetic counseling for patients affected by hereditary malignant melanoma" @default.
• W2037333346 doi "https://doi.org/10.1097/00008390-200404000-00045" @default.
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