Outcome of pancreatic cancer surveillance among high-risk individuals tested for germline mutations in BRCA1 and BRCA2 Journal Article


Authors: Saldia, A.; Olson, S. H.; Nunes, P.; Liang, X.; Samson, M. L.; Salo-Mullen, E.; Marcell, V.; Stadler, Z. K.; Allen, P. J.; Offit, K.; Kurtz, R. C.
Article Title: Outcome of pancreatic cancer surveillance among high-risk individuals tested for germline mutations in BRCA1 and BRCA2
Abstract: Germline mutations in BRCA1/2 are risk factors for pancreatic ductal adenocarcinoma (PDAC). The aim of this study was to evaluate whether results of surveillance for PDAC in high risk individuals (HRI) differ between those with and without a pathogenic BRCA1/2 mutation. This prospective study was conducted within the Pancreatic Tumor Registry at a major cancer center. There were 83 HRIs with 1 first-degree relative with PDAC who underwent surveillance and testing for pathogenic germline mutations in BRCA1/2. A secondary analysis includes 18 HRIs with known mutations in BRCA1/2 but with weaker family history. HRIs were evaluated over time using magnetic resonance cholangiopancreatography (MRCP) and endoscopic ultrasound when indicated by MRCP findings. We reviewed imaging results, blinded to mutation status. Demographic information was obtained from interviewer-administered questionnaires. The outcome was the proportion with any pancreatic abnormality identified at initial or follow-up surveillance. Among the 83 HRIs in the main analysis, 48 had a mutation in BRCA1/2 and 35 did not. Overall, 16 of 48 (33%) BRCA1/2-positive and 13 of 35 (37%) BRCA1/2-negative participants had pancreatic abnormalities on imaging; in each group, all but one finding was an intraductal papillary mucinous neoplasm. Among those with pathogenic mutations but weaker family history, results were similar: 7 of 18 (39%) with pancreatic abnormalities. Results of surveillance for pancreatic abnormalities on imaging are similar regardless of BRCA1/2 mutation status. While the results from this small study need confirmation in other studies, at present there does not appear to be increased yield from targeting individuals with BRCA1/2 mutations for surveillance. © 2019 American Association for Cancer Research.
Journal Title: Cancer Prevention Research
Volume: 12
Issue: 9
ISSN: 1940-6207
Publisher: American Association for Cancer Research  
Date Published: 2019-09-01
Start Page: 599
End Page: 607
Language: English
DOI: 10.1158/1940-6207.Capr-18-0272
PUBMED: 31337648
PROVIDER: scopus
PMCID: PMC6726560
DOI/URL:
Notes: Article -- Export Date: 1 October 2019 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    788 Offit
  2. Sara H Olson
    234 Olson
  3. Zsofia Kinga Stadler
    389 Stadler
  4. Peter Allen
    501 Allen
  5. Robert C Kurtz
    196 Kurtz
  6. Xiaolin Liang
    62 Liang
  7. Catherine Amethyst Saldia
    23 Saldia
  8. Pamela Sousa Nunes
    2 Nunes
  9. Marguerite Lawrence Samson
    5 Samson