Chromosome instability and the FAMMM syndrome

Lynch, Henry T.; Fusaro, Ramon M.; Sandberg, Avery A.; Bixenman, Helen; Johnsen, Lavonne; Lynch, Jane F.; Ramesh, K. H.; Leppert, M.

doi:10.1016/0165-4608(93)90199-v

Cited by 18 publications

(4 citation statements)

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“…However, we frequently detected cytogenetic loss of the 17p11-13 region. This genetic alteration may lead to loss of p53 function or decreased p53 expression, which could be confirmed by immunohistochemistry in our study.The deletion of band p21 on chromosome 9, also found by others, appears to be the most frequent aberration in our study (Cannan-Albright et al, 1992;Fountain et al, 1992;Lynch et al, 1993;Holland et al, 1994;Skolnick et al, 1994). The deletion of 9p21, the location of MTS-1 (CDKN-2, p16) and possibly further tumour-suppressor genes, was found in 57 of 99 melanoma cell lines (Cannan-Albright et al, 1992).…”

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confidence: 55%

Deletions of the region 17p11-13 in advanced melanoma revealed by cytogenetic analysis and fluorescence in situ hybridization

et al. 1998

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Malignant melanoma (MM) is a common cancer amongCaucasians and has shown a deplorable increase in incidence rates during recent decades. Early diagnosis -and consequently early surgical excision -has been greatly improved, leading to an average 5-year survival rate of up to 80%. Therefore, stable incident death rates of MM could be observed. However, the prognosis of metastatic MM still remains poor, with a long-term survival rate of about 20% in stage III patients (Balch et al, 1992;Johnson et al, 1995).Cytogenetic analyses of cell lines derived from MM have been reported for more than 20 years (Chen et al, 1973). The data obtained are quite complex and not always unambiguous. However, the non-random involvement of chromosomes 1, 6, 7 and 9 has been published repeatedly (Chen et al, 1973;Koprowski et al, 1985;Heim et al, 1988;Trent at al, 1990;Balch et al, 1992). Deletions or loss of function of the p53 tumour-suppressor gene (p53-TSG) have been found in roughly 50% of all malignant tumours . Mutations of the p53-TSG have been found to be characteristic for carcinogenes and biochemical mechanisms responsible for genetic lesions in DNA that cause cancer (Harris et al, 1993). Loss of function of p53 has been reported for colon, oesophageal squamous cell, pancreatic and hepatic carcinoma and other malignant tumours of the brain, lung, breast and ovary (Levine, 1993). Despite numerous studies, no clear information on the role of p53 in MM is available to date (Stretch et al, 1991;Akslen et al, 1992;Catresana et al, 1993;Piepkorn, 1994;Kanoko et al, 1995;Poremba et al, 1995;Saez-Santamaría et al, 1995;Talve et al, 1996). The majority of cultured MM cell lines is described to express p53 protein as assessed by monoclonal antibody binding. Point mutations in the p53 coding sequence (usually cytosine to thymidine) have been found in 30% of cases (Piepkorn, 1994). Stretch et al report that 73% of primary and 93% of metastatic melanomas express mutant p53 protein (Stretch et al, 1991). However, there are also reports describing a reduced p53 expression in metastatic MM compared with primary lesions (Catresana et al, 1993).To investigate the role of p53-TSG in metastatic MM, we analysed 11 metastatic MM derived from 11 patients cytogenetically by chromosome banding techniques and FISH after shortterm culture. In addition, paraffin-embedded tissues of 9 of the 11 MM were examined immunohistochemically using DO-7, an antibody reacting with both wild-type and mutant p53 protein. MATERIAL AND METHODS MaterialEleven surgically removed, histologically confirmed metastatic MM (ME 1 to ME 11) from 11 patients were minced with scissors and prepared for short-term culture by standard methods (Pederson et al, 1986). Patients' data are briefly described in Table 1. For preparing MM specimens for cytogenetic investigation, collagenase (Worthington Biochemical Corporation, NJ, USA) 200 U ml -1 was used over night.The next day, cells were washed three times to start cultivation in a collagenase-free medium with RPMI-1640 medium (Sera-l...

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confidence: 55%

Deletions of the region 17p11-13 in advanced melanoma revealed by cytogenetic analysis and fluorescence in situ hybridization

et al. 1998

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“…Familial atypical multiple mole melanoma syndrome is an autosomally dominant disease with variable penetrance caused by p16/CDKN2A gene mutation [16] . It is characterized by familial occurrence of multiple benign melanocytic nevi, dysplastic nevi, and melanoma [17] .…”

Section: Melanoma Syndromementioning

confidence: 99%

Screening and early detection of pancreatic cancer in high risk population

Chang

Wong

Chang

2014

WJG

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Pancreatic cancer is a serious growing health issue in developed countries. For patients diagnosed with pancreatic cancer, the five year survival rate is below 5%. One major important reason leads to the poor survival rate is lack of early detection of pancreatic cancer. Over 80% of the patients are diagnosed in advanced disease stages. Screening for pancreatic cancer is a desirable option for high risk individuals to allow early detection and treatment of curable pancreatic neoplasms at a pre-invasive stage. This article highlights the need, endpoint, population, method, diagnostic yield, and the problems of current screening programs.

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“…It is characterized by familial occurrence of multiple benign melanocytic nevi, dysplastic nevi, and melanoma. 38 It is associated with germline mutations in the p16/CDKN2A gene. 39,40 This syndrome is associated with an increased risk of sarcomas and endometrial, breast, and lung cancers.…”

Section: Inherited Cancer Syndromesmentioning

confidence: 99%