ABSTRACT
In 1895, the pathologist Aldred Warthin first became aware of the concerns of
his seamstress about the large number of cancers in her family. In 1913, he
reported his observations on the family in the Archives of Internal Medicine (1).
Sadly the seamstress died of metastatic endometrial cancer anyway and the
report was filed away on the shelves of medical libraries, despite a follow-
up report in 1925 (2). In the 1960s, the family was reinvestigated by Henry
Lynch in response to concerns expressed by a later member of the family (3).
Following extensive work on this and other families, in 1971, Lynch and Krush
proposed criteria for the “Cancer Family Syndrome” (4), which is now known as
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC).
Despite its particular association with colorectal cancer, apparent from Lynch’s
1966 paper, from its earliest description gynecological malignancy has been a
part of this condition. In 1991, clinical criteria were established for Lynch
syndrome, this greatly facilitated efforts to identify the causative genes (5).
