The NOD2 3020insC Mutation and The Risk of Familial Pancreatic Cancer?

Nej, Katarzyna; Bartsch, Detlef K.; Sina-Frey, Mercedes; Rieder, Harald; Hahn, Stephan A.; Lubiński, Jan

doi:10.1186/1897-4287-2-3-149

Cited by 15 publications

(12 citation statements)

References 11 publications

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“…However, the analysis of 74 families from EUROPAC and FaPaCa families revealed neither linkage nor any PLLD mutation [21,34], so that PLLD mutations seem not to be associated with European FPC families. We also could not identify unequivocal causative germline mutations in CHEK2, RNASEL, NOD2 or STK11 genes [16,17,19,20].…”

Section: Discussionmentioning

confidence: 68%

“…CDKN2a mutations were only identified in 2 of 18 PC/melanoma-prone families, so called PCMS or FAMMM-PC families [23], but in none of the FPC families without melanoma. None or non deleterious germline alterations could be identified in PALLD [21], RNASEL [16], STK11 [19], CHEK2 [17] and NOD2 [20] genes. In total, 4 (2/70 BRCA2 and 2/41 PALB2) of the FPC families carried deleterious causative germline mutations and another 6 families had unclassified variants of BRCA2, that might have clinical importance.…”

Section: Resultsmentioning

confidence: 97%

“…Thirty-five (16%) of the affected PC patients had a young age of onset of the disease [24]. We performed mutation analyses of potential causative candidate genes, either in our cohort of families or by pooling families with the EUROPAC registries or the Polish case collection (Szczecin registry) [20]. In a first step only affected patients were screened for germline mutations.…”

Section: Resultsmentioning

confidence: 99%

“…All diseased index patients of FPC families were subjected to mutation analysis of the genes BRCA2, CDKN2a, PALB2, PLLD, CHEK2, RNASEL, NOD2 and STK11 as described previously [15][16][17][18][19][20][21][22]. If a germline mutation was identified in the index patient, predictive genetic testing of this mutation was offered to all family members after genetic counseling.…”

Section: Methodsmentioning

confidence: 99%

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German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

et al. 2011

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Familial pancreatic cancer (FPC) is a rare hereditary tumor syndrome. The 10-years experience of the national case collection for familial pancreatic cancer of Germany (FaPaCa) is reported. Since 1999 FaPaCa has collected families with at least two first-degree relatives with confirmed pancreatic cancer (PC), who did not fulfill the criteria of other hereditary tumor syndromes. Histopathological verification of tumor diagnoses, and genetic counseling were prerequisites for enrollment of families in FaPaCa. 94 of 452 evaluated families fulfilled the criteria for partaking in FaPaCa. PC represented the sole tumor entity in 38 (40%) families. In 56 families additional tumor types occurred, including breast cancer (n = 28), colon cancer (n = 20) and lung cancer (n = 11). In 70 (74%) families the pattern of inheritance was consistent with an autosomal dominant trait. Compared to the preceding generation, a younger age of onset was observed in the offspring of PC patients (median: 57 vs. 69 years), indicating anticipation. Mutation analyses of BRCA2, PALB2, CDKN2a, RNASEL, STK11, NOD2, CHEK2 and PALLD, revealed deleterious causative germline mutations of BRCA2 and PALB2 in 2 of 70 (3%) and 2 of 41 (4.9%) German FPC families, respectively. Prospective PC screening with EUS, MRI and MRCP detected precancerous lesions (IPMN, multifocal PanIN2/3) or carcinoma in 5.5% (4 of 72) to 12.5% (9 of 72) of individuals at risk, depending on histological verification. Appropriate inclusion of families at high risk for PC in registries, such as FaPaCa, provides a unique and excellent tool to gain clinical and genetic knowledge of FPC. Focused research projects can be conducted most efficiently, when data of different FPC registries are combined.

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Section: Discussionmentioning

confidence: 68%

Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

et al. 2011

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“…Bei FPC-Fa mi lien ohne Me la no me spie len CDKN2a-Muta tio nen aber kei ne we sent li che Rol le, da in FPC-Fa mi li en ohne Me la no me bis her kei ne CDKN2a-Keim bahn mu ta tio nen iden ti fi ziert wur den [7]. An de re Kan dida ten ge ne wie STK11, Fan co ni-Anae miaGene, NOD2 und CHEK2 schei nen ebenfalls kei ne be deu ten de Rol le beim FPC zu spie len [6,20,35,41]. Im Ge gen satz zu an de ren Tu mor syn dro men ist auch beim po si ti ven Nach weis ei ner Keim bahn mu tati on z.…”

Section: Fa MI Li äRes Pan Kre Askar Zi Nom Syn Dromunclassified

Prophylaktische Chirurgie des Pankreas

Langer

Rothmund

Bartsch

2006

Chirurg

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The goal of prophylactic surgery is to prevent malignant growth in patients with hereditary tumor predisposition. The pancreas presents as particularly challenging, due to the difficulty of operation and comparatively high risk of morbidity and even mortality. In addition, partial operative procedures and, more significantly, total resection lead to exocrine pancreas insufficiency and secondary diabetes, with grave consequences for the patient. Hereditary tumor predisposition syndromes that can result in pancreaticoduodenal endocrine tumors (PET) include multiple endocrine neoplasia type 1 syndrome and von Hippel-Lindau syndrome. As penetrance is maximally 70-80% and the 10-year survival rate over 80%, prophylactic pancreatic resection without evidence of a tumor is not indicated. However, prophylactic extension of a resection would be advised, should a PET be diagnosed. Patients predisposed to developing ductal pancreatic carcinoma (PC) are at risk of familial pancreatic cancer syndrome (FPC), hereditary pancreatitis, and other hereditary tumor predisposition syndromes such as Peutz-Jeghers syndrome and familial atypical multiple mole-melanoma syndrome. As the gene defect responsible for FPC has yet to be identified and the penetrance of PC in the other tumor predisposition syndromes is low or unknown, a prophylactic pancreatectomy based on today's knowledge is not indicated. Prophylactic extension of the resection is advisable should PC or high-grade PanIN lesions be diagnosed, as these patients often present with multifocal dysplasia and even carcinoma.

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Pancreatic Cancer

Habbe

Simon

2008

Hereditary Tumors

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The NOD2 3020insC Mutation and The Risk of Familial Pancreatic Cancer?

Cited by 15 publications

References 11 publications

German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

Prophylaktische Chirurgie des Pankreas

Pancreatic Cancer

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