NDLI: Familial and sporadic pancreatic cancer share the same molecular pathogenesis

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Familial Cancer : Volume 13

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Familial and sporadic pancreatic cancer share the same molecular pathogenesis

Content Provider	Springer Nature Link
Author	rris, Alexis L. Roberts, Nicholas J. Jones, Siân Wheelan, Sarah J. Papadopoulos, Nickolas Vogelstein, Bert Kinzler, Kenneth W. Hruban, Ralph H. Klein, Alison P. Eshleman, James R.
Copyright Year	2014
Abstract	Pancreatic ductal adenocarcinoma (PDAC) is nearly uniformly lethal, with a median overall survival in 2014 of only 6 months. The genetic progression of sporadic PDAC (SPC) is well established, with common somatic alterations in KRAS, p16/CDKN2A, TP53, and SMAD4/DPC4. Up to 10 % of all PDAC cases occur in families with two or more affected first-degree relatives (familial pancreatic cancer, FPC), but these cases do not appear to present at an obviously earlier age of onset. This is unusual because most familial cancer syndrome patients present at a substantially younger age than that of corresponding sporadic cases. Here we collated the reported age of onset for FPC and SPC from the literature. We then used an integrated approach including whole exomic sequencing, whole genome sequencing, RNA sequencing, and high density SNP microarrays to study a cohort of FPC cell lines and corresponding germline samples. We show that the four major SPC driver genes are also consistently altered in FPC and that each of the four detection strategies was able to detect the mutations in these genes, with one exception. We conclude that FPC undergoes a similar somatic molecular pathogenesis as SPC, and that the same gene targets can be used for early detection and minimal residual disease testing in FPC patients.
Starting Page	95
Ending Page	103
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	14
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2014-09-21
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Pancreatic ductal adenocarcinoma (PDAC) Familial pancreatic cancer (FPC) Germline predisposition Cancer driver genes Next generation sequencing (NGS) Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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