Population-based study of familial medullary thyroid cancer

Kari Hemminki, Chuanhui Dong

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Background: We wanted to carry out a population-based study on medullary thyroid cancer (MTC) in order to quantify familial risks. Methods: MTC was studied in the Swedish Family-Cancer Database, updated in 1999 to cover individuals and offspring, born after 1934 with their biological parents, totaling 9.6 million persons. Cancer data were obtained from the Swedish Cancer Registry from the years 1958 to 1996 and included 2,435 thyroid cancers among offspring. Results: 65 offspring were identified with MTC, which has been coded as a separate entity since 1985, 62% had neither affected parent nor sib. Most familial cases were diagnosed at ages 15 to 24 and sporadic cases 25 years later. The familial SIRs of MTC were 3,080 and 3,650 when either a parent or a sib had MTC; when both had MTC the SIR was 35,800. All the familial risks were highest in young age groups, 0-9 years. MEN 2 or MEN 2-like families were considered when one family member had a TC and an adrenal pheochromocytoma. SIR of MTC in offspring was 61,000 when a parent had a MEN 2-like cancer and a sib had MTC. Conclusions: we describe familial and sporadic MTC in a population-based database. The familial risks of MTC may be the highest ever reported in population based studies.

Original languageEnglish (US)
Pages (from-to)45-49
Number of pages5
JournalFamilial Cancer
Issue number1
StatePublished - 2001
Externally publishedYes


  • Affected sibs
  • Medullary thyroid carcinoma
  • MEN 2
  • Pheochromocytoma

ASJC Scopus subject areas

  • Cancer Research
  • Genetics


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