Familial melanoma.
نویسنده
چکیده
Approximately 5% to 10% of cases of cutaneous melanoma occur in families that have a hereditary predisposition for this disease. In 20% to 40% of such melanoma families, germline mutations in the CDKN2A gene have been identified. Apart from a high risk of melanoma, a proportion of kindreds that have familial melanoma also have an increased risk of pancreatic carcinoma. Guidelines for management of familial melanoma and the issue of genetic testing for CDKN2A germline mutations are discussed.
منابع مشابه
Frequency and Characteristics of Familial Melanoma in Spain: The FAM-GEM-1 Study
INTRODUCTION Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patients were reported to have a family history of melanoma. Data relating to the frequency and clinical and pathological characteristics of both familial and non-familial melanoma in Spain have been published, but these only include patients from specific areas of Spain and do not represent t...
متن کاملEvidence from cytogenetics, multipoint linkage analyses of familial melanoma, and loss of heterozygosity studies of familial and sporadic melanomas support localization of a melanoma susceptibfflty or tumor
Evidence from cytogenetics, multipoint linkage analyses of familial melanoma, and loss of heterozygosity studies of familial and sporadic melanomas support localization of a melanoma susceptibfflty or tumor suppressor gene at chromosomal region 9p21—23. Recently, the inhibitor of cydlin-dependent kinase 4 (CDK4I; also known as p16@'4, multiple tumor suppressor 1, or CDKN2 gene) has been mappe...
متن کاملEvidence from cytogenetics, multipoint linkage analyses of familial melanoma, and loss of heterozygosity studies of familial and sporadic melanomas support localization of a melanoma susceptibfflty or tumor
Evidence from cytogenetics, multipoint linkage analyses of familial melanoma, and loss of heterozygosity studies of familial and sporadic melanomas support localization of a melanoma susceptibfflty or tumor suppressor gene at chromosomal region 9p21—23. Recently, the inhibitor of cydlin-dependent kinase 4 (CDK4I; also known as p16@'4, multiple tumor suppressor 1, or CDKN2 gene) has been mappe...
متن کاملClinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain
BACKGROUND About 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families. OBJECTIVE To characterise the clinical and histopathological characteristics of familial melanoma thus providing more information to clinicians and contribute to the understanding of the genetic-environment interplay in the pathogenesis of melan...
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In this review we have aimed to focus on the clinical management of familial melanoma patients and their relatives. Along this line three major topics will be discussed: (1) management/screening of familial melanoma families: what is advised and what is the evidence thereof; (2) variability of families worldwide with regard to clinical phenotype, including cancer spectrum and likelihood of find...
متن کاملCancer Prone Disease Section
Alias: Familial pancreatic cancer Inheritance It has been estimated that as many as 10% of pancreatic cancers have a hereditary basis; five genetic syndromes have been identified that are associated with the familial aggregation of pancreatic cancer; these include: The second breast cancer syndrome (BRCA2), the familial atypical multiple mole melanoma (FAMMM), the Peutz-Jeghers Syndrome, the he...
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ورودعنوان ژورنال:
- The Surgical clinics of North America
دوره 88 4 شماره
صفحات -
تاریخ انتشار 2008