Endometrial adenocarcinoma: Genetic analysis suggesting heritable site-specific uterine cancer

Lisa G. Sandles*, Lee P. Shulman, Sherman Elias, Guy J. Photopulos, Linda M. Smiley, William M. Posten, Joe Leigh Simpson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


Genetic factors are clearly integral to the etiology of neoplasia. A cancer family syndrome (Lynch syndrome II) consisting of uterine, colon, and ovarian cancer is recognized, but the heritability of isolated endometrial adenocarcinoma has not otherwise been thoroughly investigated. We have performed pedigree studies in index cases with endometrial adenocarcinoma, using spouses as controls. Preliminary results from 64 probands showed four families in which endometrial adenocarcinoma was diagnosed in at least one first-degree relative of the proband (mother, daughter, sister); none showed relatives with colon or ovarian cancer. In none of the 34 control pedigrees did either a mother or sister have endometrial adenocarcinoma. In four other families, multiple first- and second-degree relatives of probands had adenocarcinoma of the uterus, colon, or ovary, presumably representing a cancer family syndrome (Lynch syndrome II). Conclusion: Our preliminary data not only show familial and probably heritable tendencies for endometrial adenocarcinoma, but further suggest that there are at least two distinct forms: (1) the previously described Lynch syndrome II (cancer family syndrome), and (2) a heretofore unemphasized entity characterized by a tendency to endometrial adenocarcinoma alone.

Original languageEnglish (US)
Pages (from-to)167-171
Number of pages5
JournalGynecologic Oncology
Issue number2
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology


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