HRI = High Risk Individuals
open access
..... We chose familial HRIs as research subjects. In this population, there
are also individuals with high risks for other diseases. Peutz-Jeghers
syndrome with
STK11/LKB1 gene mutation[
36], hereditary pancreatitis with
PRSS1 gene[
37,38] or
SPINK1 gene mutation[
39], familial atypical multiple mole melanoma syndrome with
CDKN2A or
p16 gene mutations[
40], hereditary breast ovarian cancer syndrome with
BRCA2 and
BRCA1 gene mutations[
41,42], and
Lynch syndrome with mismatch repair genes[
43]
are found in high risk populations, who should also receive attention.
Nevertheless, these are not completely independent. Familial HRIs may
also have gene mutations. The
PRSS1 gene mutation is the main influencing factor in hereditary pancreatitis, an autosomal dominant disease.
BRCA2 is one of the most common mutations, and was as high as 17% in one study[
44].
Future studies on HRIs with gene mutations should be carried out to
determine if they have a higher risk than HRIs without gene mutations.
In addition, because of the complex nature of the pedigrees in
pancreatic cancer, Wang et al[
45] designed a tool known as PancPRO to identify familial HRIs, which was used for selecting and screening......
Peer-review
This
is a good systematic review in which the authors analyzed the benefits
and harms of pancreatic cancer screening in familial high-risk
individuals. The results are interesting, and suggest that pancreatic
cancer screening in familial HRIs can improve detection rate and prolong
lifetime. In addition, it can influence psychological functions and
increase the economic burden.
selected references (all references see article above)
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Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial
Peutz-Jeghers syndrome.
Gastroenterology. 2000;
119:1447-1453.
[PubMed]
41. (open access)
Thompson D, Easton DF. Cancer Incidence in BRCA1 mutation carriers.
J Natl Cancer Inst. 2002;
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[PubMed]
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van
Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S,
Vasen HF, Ausems MG, Menko FH, Gomez Garcia EB, Klijn JG. Cancer risks
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J Med Genet. 2005;
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[PubMed] [DOI]
43. (open access)
Kastrinos
F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, Bandipalliam P,
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with Lynch syndrome.
JAMA. 2009;
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[PubMed] [DOI]