Disease #02597 (melanoma-pancreatic cancer syndrome, OMIM:606719)

Official abbreviation -
Name melanoma-pancreatic cancer syndrome
OMIM ID 606719
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 7
Associated with 1 gene CDKN2A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00111216 - PubMed: Bartsch 2002 - - - - - - - - - melanoma-pancreatic cancer syndrome FPC CDKN2A CDKN2A 1 1 Johan den Dunnen
00111217 - PubMed: Bartsch 2002 - - - - - - - - - melanoma-pancreatic cancer syndrome FPC CDKN2A CDKN2A 1 1 Johan den Dunnen
00111223 - - - M - Netherlands - - - - - melanoma-pancreatic cancer syndrome PaC55; 2 brothers PaC; cancer, pancreas, familial (FPC) CDKN2A CDKN2A 1 1 Janneke Weiss
00111269 - PubMed: Kannengieser 2003 - - - - - - - - - melanoma-pancreatic cancer syndrome FPC CDKN2A CDKN2A 1 1 Johan den Dunnen
00111367 - - - - - Netherlands - - - - - melanoma-pancreatic cancer syndrome n=150 carriers of c.225_243del19 (p16-Leiden), Prospectively evaluated for a median of 43 months (median age 51 years), , Melanoma: RR 41.3 (95% CI 22.9-74.6), Pancreatic cancer: RR 80.8 (95% CI 44.7-146), Cancer of lip, mouth, pharynx: RR 18.8 (95% CI 6.05-58.2), Respiratory cancer (including larynx): RR 4.56 (95% CI 1.71-12.1), Carcinoid tumours: RR 119 (95% CI 29.7-475), , Any cancer except melanoma and pancreas: RR 4.31 (95% CI 2.91-6.37), , Sarcoidosis diagnosed in 6/150 individuals (4%); FAMMM CDKN2A CDKN2A 1 150 Thomas Potjer
00111465 - PubMed: Goldstein 2007 - - - - - - - - - melanoma-pancreatic cancer syndrome - CDKN2A CDKN2A 1 1 Johan den Dunnen
00111550 - PubMed: Moskaluk 1998 - - - - - - - - - melanoma-pancreatic cancer syndrome - CDKN2A CDKN2A 1 1 Johan den Dunnen
00111584 - PubMed: Loo 2003 - - - - - - - - - melanoma-pancreatic cancer syndrome - CDKN2A CDKN2A 1 1 Johan den Dunnen
00155215 - - - F ? Netherlands - 57y - - - melanoma-pancreatic cancer syndrome 46y-ampullary carcinoma; 57y-pancreatic ductal adenocarcinoma; the PDAC is considered a second primary based on NGS analysis on tumor tissue of both tumours: - tumor at age 46: KRAS c.35G>A, p. (Gly12Asp) - tumor at age 57: KRAS c.35G>A, p. (Gly12Asp), TP53 c.722C>T, p.(Ser241Phe), STK11 c.598-1G>A CDKN2A CDKN2A 1 1 Thomas Potjer
00155216 - - - F ? Netherlands - - - - - melanoma-pancreatic cancer syndrome 67y-two synchronous primary pancreatic ductal adenocarcinomas, tumor in pancreatic head 13 mm, tumor in pancreatic corpus 19 mm; molecular analysis of both tumours showed no clonal relatedness and therefore these tumours are considered both primary tumours CDKN2A CDKN2A 1 1 Thomas Potjer
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