Mercedes Sina-Frey

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BACKGROUND Although as many as 10% of pancreatic cancer cases may have an inherited component, familial pancreatic cancer has not been linked to defects in any specific gene. Some studies have shown that families with germline mutations in the breast cancer susceptibility gene BRCA2 have an increased risk of breast and ovarian cancers, as well as a modestly(More)
BACKGROUND Previous studies of anticipation in familial pancreatic cancer have been small and subject to ascertainment bias. Our aim was to determine evidence for anticipation in a large number of European families. PATIENTS AND METHODS A total of 1223 individuals at risk from 106 families (264 affected individuals) were investigated. Generation G3 was(More)
Hereditary pancreatic cancer (PC) is rare and extremely heterogeneous, and it accounts for approximately 2% of all PC cases. The major component of hereditary PC is the familial pancreatic cancer syndrome. Although up to 20% of hereditary PC cases are associated with germline mutations in the BRCA2, CDKN2A, PRSS1,STKI1, or MMR genes, the major underlying(More)
OBJECTIVE To evaluate the prevalence of mutations in the CDKN2A gene encoding p16 and p14 in familial pancreatic cancer (FPC). SUMMARY BACKGROUND DATA The genetic basis of FPC is still widely unknown. Recently, it has been shown that germline mutations in the p16 tumor suppressor gene can predispose to pancreatic cancer. The presence of p14 germline(More)
BACKGROUND/AIMS The prevalence of familial pancreatic cancer (FPC) and the characteristics of FPC have not yet been well investigated in the German population. Therefore, a German case collection for FPC was established in July 1999 to collect and evaluate data on FPC families. METHODS The prevalence of pancreatic cancer (PC) as well as other tumours and(More)
The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate cancer, and an association between the RNASEL Arg462Gln variant and sporadic and familial prostate cancer, has also been suggested. Because prostate cancer occurs in some familial pancreatic cancer families, we evaluated the role of the RNASEL gene variants(More)
Familial pancreatic cancer (FPC) (approximately 3% of all cases) has not been linked to defects in any specific gene. Germline inactivation of the gene LKB1/STK11 have been shown to cause Peutz-Jeghers syndrome (PJS) associated with a approximately 100-fold higher risk for the development of pancreatic cancer. We have analysed 39 index patients from(More)
1Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Medical University, Szczecin, Poland; 2Department of Surgery, Philipps-University, Marburg, Germany; 3Institute of Clinical Genetics, Philipps-University, Marburg, Germany; 4Department of Internal Medicine, Hospital Langendreer, Ruhr-University, Bochum, Germany;(More)
BACKGROUND Familial pancreatic cancer (FPC) describes a group of families where the inheritance of pancreatic cancer is consistent with an autosomal-dominant mode of inheritance. The 4q32-34 region has been previously identified as a potential locus for FPC in a large American family. METHODS The region was allelotyped in 231 individuals from 77 European(More)
BACKGROUND The observation of a familial accumulation of ductal pancreatic adenocarcinoma (PC) and the increased risk for PC in certain hereditary tumor syndromes point to a genetic predisposition for PC. In order to evaluate the characteristics of familial PC, a German national case collection for familial pancreas cancer (FaPaCa) was established. (More)