Hereditary Cancer Syndromes

Rahner, Nils; Steinke, Verena

doi:10.3238/arztebl.2008.0706

Cited by 68 publications

(63 citation statements)

References 18 publications

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“…Both probands had other malignancies in their family members. The first one is extremely rare due to the unusual number of primary malignancies developed, raising the possibility of a germline mutation, which can also be seen in hereditary cancer syndromes [7]. This could also explain the frequency of malignancies and their distribution in this patient and his relatives.…”

Section: Discussionmentioning

confidence: 82%

“…One of the two probands developed five discrete primary neoplasms, which is extremely rare. The types of malignancies involved, familial pattern and the age of the patients in these kindreds do not fit the characteristics of the known familial cancer syndromes [7]. These cases suggest that thymoma associated with other malignancies herald tendency to develop cancer in other family members.…”

Section: Introductionmentioning

confidence: 83%

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Thymoma associated with malignancies may herald a hereditary cancer syndrome

et al. 2010

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Two probands with thymoma and other primary malignancies with multiple cancer patients in the family are described. Types of malignancies, pattern of pedigree and age of the patients do not match the known familial cancer syndromes. One proband was a very rare case with five discrete primary malignancies; TP53 sequencing and karyotyping did not reveal any mutations. These cases suggest thymoma associated malignancies may herald a hereditary cancer syndrome.

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Section: Discussionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 83%

Thymoma associated with malignancies may herald a hereditary cancer syndrome

et al. 2010

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“…Patients with multiple neoplasms are more likely to harbor a germline mutation in one of those genes. It is estimated that approximately 5% of all cancers arise within a hereditary cancer syndrome, each of which present with a spectrum of tumors (29).…”

Section: Discussionmentioning

confidence: 99%

Gastric cancer and concomitant renal cancer: A systematic immunohistochemical and molecular analysis

Betge

Pollheimer²,

Schlemmer³

et al. 2011

Oncol Rep

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Abstract. The frequency of gastric cancer in patients with renal cell carcinoma (RCC) is exceptionally high in our region suggesting a common molecular basis. Our study aimed to characterize tumors and to analyze possible underlying molecular features in 12 patients with gastric cancer and concomitant RCC. We performed an immunohistochemical analysis including p53 protein expression, proliferative activity (MIB-1), mismatch repair status (hMLH1, hMSH2, hMSH6, PMS2) and E-cadherin expression in gastric cancers, which were additionally analyzed for Epstein-Barr-Encoded-RNA (EBER) by in situ hybridization. Microsatellite instability was analyzed with a PCR multiplex system and capillary electrophoresis. KRAS mutations in codons 12 and 13 were tested by pyrosequencing. All patients had clear cell RCCs, 10 of which were well differentiated and diagnosed in an early stage, while the gastric cancers of these patients were generally poorly or undifferentiated and diagnosed in an advanced stage. Gastric cancers showed reduced E-cadherin staining in 10 out of 12 cases. Two gastric cancers demonstrated loss of hMLH1 and PMS2, which was confirmed by molecular analysis showing a high degree of microsatellite instability. All RCCs were microsatellite stable. KRAS mutation was detected in one of the two instable gastric cancers, while none of the RCCs had KRAS mutations. Another gastric cancer was positive for EBV. In conclusion, a coherent cause for gastric cancer and concomitant RCC, such as Lynch syndrome, a prominent role of KRAS mutation or EBV infection, was not found in our series. Other factors leading to a higher susceptibility for cancer must be explored to explain why individuals with RCC have a higher risk of developing gastric cancer in our region.

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“…Da das Risiko für HNPCC-Patienten, im Laufe des Lebens an Krebs zu erkranken, ca. 80% beträgt, sollten bei Bestätigung des Verdachts regelmäßige Tumorfrüherken-nungsuntersuchungen (Gastroskopie, Koloskopie, Sonographie des Abdomens, gynäkologische Untersuchung mit transvaginaler Sonographie und hautfachärzt-liche Untersuchung) erfolgen [5]. Diese sollten ab dem 25.…”

Section: Muir-torre-syndromunclassified

Muir-Torre-Syndrom

Anders¹,

Kneitz²,

Kunstmann

et al. 2011

Hautarzt

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Muir-Torre syndrome (MTS) is a rare autosomal dominant tumor syndrome characterized by the occurrence of tumors of the sebaceous glands and/or multiple keratoacanthomas in addition to internal neoplasia. Skin tumors include not only sebaceous adenomas and sebaceomas but also sebaceous carcinomas which are associated with colorectal carcinomas in over 50%, less commonly with carcinomas of the remaining gastrointestinal, urinary or genital tract. The underlying pathogenesis is a defect of the DNA mismatch repair system introducing microsatellite instability in tumor tissue.

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Hereditary Cancer Syndromes

Cited by 68 publications

References 18 publications

Thymoma associated with malignancies may herald a hereditary cancer syndrome

Thymoma associated with malignancies may herald a hereditary cancer syndrome

Gastric cancer and concomitant renal cancer: A systematic immunohistochemical and molecular analysis

Muir-Torre-Syndrom

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