Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer

Nicky Dekker, Eleonora B L Van Dorst, Rob B. Van Der Luijt, Marielle E. Van Gijn, Marc Van Tuil, Johan A. Offerhaus, Margreet G E M Ausems

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.

Original languageEnglish (US)
Pages (from-to)345-357
Number of pages13
JournalJournal of Genetic Counseling
Issue number3
StatePublished - Jun 2013
Externally publishedYes


  • BRCA1 gene
  • BRCA2 gene
  • Endometrial neoplasms
  • Genetic counseling
  • Lynch syndrome
  • Ovarian neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)


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