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Familial risks in cancer of unknown primary: tracking the primary sites.

Hemminki, Kari LU ; Ji, Jianguang LU ; Sundquist, Jan LU and Shu, Xiaochen LU (2011) In Journal of Clinical Oncology 29(4). p.435-440
Abstract
PURPOSE Cancer of unknown primary (CUP) is diagnosed at the metastatic stage, and despite extensive diagnostic work-up, the primary tumor often remains unidentified. No data are available on familial clustering of CUP. We hypothesize that familial clustering of CUP with other cancers may be informative of the primary sites. PATIENTS AND METHODS A total of 35,168 patients with CUP were identified in the Swedish Family-Cancer Database, and risks between family members were calculated for concordant (CUP-CUP) and discordant (CUP-any other cancer) cancers using standardized incidence ratio (SIR). Results Familial cases of CUP accounted for 2.8% of all CUP cases in the offspring generation. Familial SIR for CUP was 1.69 when a sibling was... (More)
PURPOSE Cancer of unknown primary (CUP) is diagnosed at the metastatic stage, and despite extensive diagnostic work-up, the primary tumor often remains unidentified. No data are available on familial clustering of CUP. We hypothesize that familial clustering of CUP with other cancers may be informative of the primary sites. PATIENTS AND METHODS A total of 35,168 patients with CUP were identified in the Swedish Family-Cancer Database, and risks between family members were calculated for concordant (CUP-CUP) and discordant (CUP-any other cancer) cancers using standardized incidence ratio (SIR). Results Familial cases of CUP accounted for 2.8% of all CUP cases in the offspring generation. Familial SIR for CUP was 1.69 when a sibling was diagnosed with CUP. As to discordant associations between siblings, CUP was associated with lung (SIR, 1.87), kidney (SIR, 1.82), liver (SIR, 1.67), ovarian (SIR, 1.45), colorectal (SIR, 1.26), and breast (SIR, 1.15) cancers and melanoma (SIR, 1.26). Upper aerodigestive tract, bladder, pancreatic, and prostate cancers were additionally associated with CUP. Notably, CUP was associated with families of kidney, lung, and colorectal cancers. CONCLUSION The present data show that CUP is not a disease of random metastatic cancers but, instead, a disease of a defined set of cancers. The association of CUP with families of kidney, lung, and colorectal cancers suggests a marked genetic basis and shared metastatic mechanisms by many cancer types. Familial sites shared by CUP generally match those arising in tissue-of-origin determinations and, hence, suggest sites of origin for CUP. Mechanistic exploration of CUP may provide insight into defense against primary tumors and the metastatic process. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Clinical Oncology
volume
29
issue
4
pages
435 - 440
publisher
American Society of Clinical Oncology
external identifiers
  • wos:000287081800031
  • pmid:21189391
  • scopus:79952093910
ISSN
1527-7755
DOI
10.1200/JCO.2010.31.5614
language
English
LU publication?
yes
id
a9e59ccb-e3b1-4fd4-b637-5e65f4efb022 (old id 1778032)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21189391?dopt=Abstract
date added to LUP
2011-02-01 09:52:38
date last changed
2017-10-22 04:52:16
@article{a9e59ccb-e3b1-4fd4-b637-5e65f4efb022,
  abstract     = {PURPOSE Cancer of unknown primary (CUP) is diagnosed at the metastatic stage, and despite extensive diagnostic work-up, the primary tumor often remains unidentified. No data are available on familial clustering of CUP. We hypothesize that familial clustering of CUP with other cancers may be informative of the primary sites. PATIENTS AND METHODS A total of 35,168 patients with CUP were identified in the Swedish Family-Cancer Database, and risks between family members were calculated for concordant (CUP-CUP) and discordant (CUP-any other cancer) cancers using standardized incidence ratio (SIR). Results Familial cases of CUP accounted for 2.8% of all CUP cases in the offspring generation. Familial SIR for CUP was 1.69 when a sibling was diagnosed with CUP. As to discordant associations between siblings, CUP was associated with lung (SIR, 1.87), kidney (SIR, 1.82), liver (SIR, 1.67), ovarian (SIR, 1.45), colorectal (SIR, 1.26), and breast (SIR, 1.15) cancers and melanoma (SIR, 1.26). Upper aerodigestive tract, bladder, pancreatic, and prostate cancers were additionally associated with CUP. Notably, CUP was associated with families of kidney, lung, and colorectal cancers. CONCLUSION The present data show that CUP is not a disease of random metastatic cancers but, instead, a disease of a defined set of cancers. The association of CUP with families of kidney, lung, and colorectal cancers suggests a marked genetic basis and shared metastatic mechanisms by many cancer types. Familial sites shared by CUP generally match those arising in tissue-of-origin determinations and, hence, suggest sites of origin for CUP. Mechanistic exploration of CUP may provide insight into defense against primary tumors and the metastatic process.},
  author       = {Hemminki, Kari and Ji, Jianguang and Sundquist, Jan and Shu, Xiaochen},
  issn         = {1527-7755},
  language     = {eng},
  number       = {4},
  pages        = {435--440},
  publisher    = {American Society of Clinical Oncology},
  series       = {Journal of Clinical Oncology},
  title        = {Familial risks in cancer of unknown primary: tracking the primary sites.},
  url          = {http://dx.doi.org/10.1200/JCO.2010.31.5614},
  volume       = {29},
  year         = {2011},
}