CoChat
Sign Up
Cited by 134Pancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancerBRCA gene mutations in cancer

Familial pancreatic cancer

Open access
Hruban, R.H., Petersen, G.M., Goggins, M., Tersmette, A.C., Offerhaus, G.J.A., Falatko, F., Yeo, C.J., Kern, S.E.·1999·Annals of Oncology
DOI 10.1093/annonc/10.suppl_4.s69
Open this paper in CoChat — free account

Abstract

BACKGROUND: For many years anecdotal case reports have suggested that pancreatic cancer aggregates in some families. METHODS: Two recent advances have established that this is in fact the case. First, large registries, such as the National Familial Pancreas Tumor Registry (NFPTR) at Johns Hopkins, have identified a number of families in which multiple family members have been diagnosed with pancreatic cancer. As a result, the patterns of inheritance of pancreatic cancer can now be studied on a scale not possible before. Second, advances in molecular genetic techniques make it possible to test members of these families for germline mutations in known candidate cancer causing genes. As a result, some of the genetic alterations responsible for the familial aggregation of pancreatic cancer have been identified in some families. RESULTS: The NFPTR has enrolled 362 families in which at least one family member has been diagnosed with pancreatic cancer. These include 151 families in which at least two first-degree relatives have been diagnosed with pancreatic cancer. Analysis of these families has revealed that even second-degree relatives of patients from these families are at increased risk of developing pancreatic cancer. In addition, a number of kindreds which exhibit aggregation of cancer have been tested for germline mutations in known cancer causing genes. Germline mutations in BRCA2 have been shown to predispose to both breast and pancreatic cancer, germline mutations in p16 to melanoma and pancreatic cancer (the FAMMM syndrome), and genetic mutations in STK11/LKB1 to pancreatic cancer in patients with the Peutz-Jeghers Syndrome (PJS). CONCLUSIONS: Pancreatic cancer aggregates in some families, and relatives of patients with pancreatic cancer have an increased risk of developing pancreatic cancer themselves. The genetic basis for the familial aggregation of pancreatic cancer has been shown to be germline mutations in known cancer causing genes in some of these families.

Integrity signals

Registry

Crossref · 10.1093/annonc/10.suppl_4.s69

Cites

51 of 51 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Screening the general population for pancreatic ductal adenocarcinoma carries risk, and there is currently no evidence that it reduces mortality or is cost-effective.

    “Screening of the general population carries risk, and there is currently no evidence that it reduces mortality or is cost-effective.54,55”

    From Early detection of pancreatic cancer (2020) · cites this paper as [55]

  • Established screening programmes for pancreatic ductal adenocarcinoma include the pan-European EUROPAC registry, the North American National Familial Pancreatic Tumor Registry, and the German National Case Collection for familial pancreatic cancer.

    “Established screening programmes exist, including the pan-European EUROPAC registry,36 North American National Familial Pancreatic Tumor Registry,57 and the German National Case Collection for familial pancreatic cancer.58”

    From Early detection of pancreatic cancer (2020) · cites this paper as [57]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Hruban, R. H., Petersen, G. M., Goggins, M., Tersmette, A. C., Offerhaus, G. J. A., Falatko, F., Yeo, C. J., & Kern, S. E.
Affiliations
Johns Hopkins University (US)
ORCID
Venue
Annals of Oncology
Publisher
Elsevier BV
Published
1999
Volume
10
Pages
S69-S73
ISSN
0923-7534 (ISSN-L)
DOI
10.1093/annonc/10.suppl_4.s69
OpenAlex
W2154833261
Cited by
134
References
51
Citations by year
2024: 2 · 2023: 2 · 2021: 1 · 2020: 5 · 2019: 5 · 2018: 6 · 2017: 5 · 2016: 5 · 2015: 2 · 2014: 5 · 2013: 4 · 2012: 4
FWCI
3.17
Type
journal article
Language
en
Open access
Licence
Locations
  • Annals of Oncology (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health
  • National Cancer Institute (P50CA062924)
Topics
  • Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords
familial pancreatic cancer, pancreatic cancer, familial aggregation, germline mutations, BRCA2, p16, STK11/LKB1, Peutz-Jeghers syndrome, hereditary cancer predisposition, second-degree relatives
MeSH terms
Breast Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Dysplastic Nevus Syndrome, Female, Humans, Neoplasm Proteins, Pancreatic Neoplasms, Transcription Factors, Genes, p16, BRCA2 Protein

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review