PMID- 24395243
OWN - NLM
STAT- MEDLINE
DCOM- 20140220
LR  - 20231213
IS  - 1549-5477 (Electronic)
IS  - 0890-9369 (Print)
IS  - 0890-9369 (Linking)
VI  - 28
IP  - 1
DP  - 2014 Jan 1
TI  - Familial pancreatic cancer: genetic advances.
PG  - 1-7
LID - 10.1101/gad.228452.113 [doi]
AB  - Beset by poor prognosis, pancreatic ductal adenocarcinoma is classified as 
      familial or sporadic. This review elaborates on the known genetic syndromes that 
      underlie familial pancreatic cancer, where there are opportunities for genetic 
      counseling and testing as well as clinical monitoring of at-risk patients. Such 
      subsets of familial pancreatic cancer involve germline cationic trypsinogen or 
      PRSS1 mutations (hereditary pancreatitis), BRCA2 mutations (usually in 
      association with hereditary breast-ovarian cancer syndrome), CDKN2 mutations 
      (familial atypical mole and multiple melanoma), or DNA repair gene mutations 
      (e.g., ATM and PALB2, apart from those in BRCA2). However, the vast majority of 
      familial pancreatic cancer cases have yet to have their genetic underpinnings 
      elucidated, waiting in part for the results of deep sequencing efforts.
FAU - Rustgi, Anil K
AU  - Rustgi AK
AD  - Division of Gastroenterology, Department of Medicine and Genetics, Abramson 
      Cancer Center, Perelman School of Medicine, University of Pennsylvania, 
      Philadelphia, Pennsylvania 19104, USA.
LA  - eng
GR  - P30 DK050306/DK/NIDDK NIH HHS/United States
GR  - R01 DK060694/DK/NIDDK NIH HHS/United States
GR  - P30-DK050306/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Genes Dev
JT  - Genes & development
JID - 8711660
RN  - Hereditary pancreatitis
RN  - Pancreatic carcinoma, familial
SB  - IM
MH  - Carcinoma/etiology/*genetics
MH  - Colonic Neoplasms/complications/genetics
MH  - DNA Repair/genetics
MH  - Humans
MH  - Melanoma/complications/genetics
MH  - Mutation/genetics
MH  - Pancreatic Neoplasms/etiology/*genetics
MH  - Pancreatitis, Chronic/complications/genetics
MH  - Skin Neoplasms
MH  - Syndrome
MH  - Melanoma, Cutaneous Malignant
PMC - PMC3894408
OTO - NOTNLM
OT  - BRCA2
OT  - familial pancreatic cancer
OT  - genetic testing
OT  - hereditary pancreatitis
EDAT- 2014/01/08 06:00
MHDA- 2014/02/22 06:00
PMCR- 2014/07/01
CRDT- 2014/01/08 06:00
PHST- 2014/01/08 06:00 [entrez]
PHST- 2014/01/08 06:00 [pubmed]
PHST- 2014/02/22 06:00 [medline]
PHST- 2014/07/01 00:00 [pmc-release]
AID - 28/1/1 [pii]
AID - 10.1101/gad.228452.113 [doi]
PST - ppublish
SO  - Genes Dev. 2014 Jan 1;28(1):1-7. doi: 10.1101/gad.228452.113.