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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)
36. (open access - pdf file link)
Giardiello
FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV,
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;94:1358-1365.[PubMed]
42. (open access)
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
in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005;42:711-719.[PubMed] [DOI]
43. (open access)
Kastrinos
F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, Bandipalliam P,
Stoffel EM, Gruber SB, Syngal S. Risk of pancreatic cancer in families
with Lynch syndrome. JAMA. 2009;302:1790-1795.[PubMed] [DOI]
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