People with
Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of
cancer.
Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair
proteins. In this review, issues that concern Lynch patients are highlighted from the patients' perspective. Both authors are affected by
Lynch syndrome and are active in Lynch patient organizations. The goal of this review is to assist heath care providers in the improvement of care for individuals who share our disorder. Institutional and/or national guidelines that should lead to the identification of Lynch patients have been developed in many countries. However, adherence to these guidelines is poor and the consequence is severe underdiagnosis of
Lynch syndrome. An important task of patient organizations is therefore to increase awareness of
Lynch syndrome among the general public and health care providers. Because diagnosis of
Lynch syndrome based on family history is difficult, the use of molecular and or histological techniques that permit unequivocal diagnosis should be more aggressively promoted. Since
Lynch syndrome encompasses a broad spectrum of
cancers, a multidisciplinary treatment and screening protocol for all Lynch patients is necessary. Lynch patients must be seen by a team of specialists that are knowledgeable in the various manifestations of
Lynch syndrome. Because
tumors with
mismatch repair deficiency have specific properties, identification of effective
chemotherapy regimens, specifically targeted to patients with deficiencies in DNA repair mechanisms, must be developed. The high lifetime risk of developing
cancer in Lynch patients warrants lifestyle advice and research into chemopreventive measures that reduce the risk of
cancer in this vulnerable group. Implementation of these recommendations will result in greatly improved quality of life for people affected with
Lynch syndrome, it is therefore important that health care providers and patient organizations work together to achieve these goals.