Diagnosis and management of Lynch syndrome

Recently, an appreciation of the mechanism of carcinogenesis in LS-associated cancers has contributed to the development of novel therapeutic and diagnostic approaches, with a gene-specific approach to disease management, with potential cancer-preventing vaccines in development. An adaptive approach to surgical or oncological management of LS-related cancers may be considered, including an important role for novel checkpoint inhibitor immunotherapy in locally advanced or metastatic disease. Therefore, a personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment which we outline in this review.


Lynch Syndrome: everything you need to know(Ovarian Cancer Action UK)

A genetic mutation like Lynch syndrome is not a guarantee that you will develop cancer, but it gives you an increased risk that you will be diagnosed with certain cancers in your lifetime. 


Cancer Moonshot Blue Ribbon Panel (2016-USA)

The report describes a set of consequential recommendations for accelerating cancer research to achieve the ambitious goal of making a decade’s worth of cancer research progress in five years and to bring the most promising science and clinical developments to all cancer patients in the near term. https://www.cancer.gov/research/key-initiatives/moonshot-cancer-initiative/blue-ribbon-panel/blue-ribbon-panel-report-2016.pdf

G. Prevention and Early Detection: Implementation of Evidence-Based Approaches: “Currently, there is a need for nationwide efforts to identify individuals with hereditary cancer syndromes, and to determine and implement optimal intervention strategies, such as earlier cancer screenings, that would reduce the risk of developing malignant disease. For example, in the case of LS, which leads to increased risk of colorectal and endometrial cancers as well as other malignancies, tumor testing is recommended for all individuals with CRC; however, fewer than 5% receive this screening, representing a missed opportunity to identify individuals and family members who may have inherited a substantially higher cancer risk.

Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)

Most people have two working copies of each of the MMR genes in their cells.  One copy is inherited from the mother and one from the father. A change in the gene that causes it to not work properly is called a mutation.  When someone inherits an MMR gene mutation from the mother and another mutation in the same MMR gene from the father, they have constitutional mismatch repair deficiency syndrome. In other words, this person has a mutation affecting each of the 2 copies of an MMR gene.


Lynch Syndrome: A Common Yet Under-Recognized Hereditary Cancer Predisposition


Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition.

This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer.

Mount Sinai Researchers Report Increasing Incidence of Early-Onset Colorectal Precancerous Lesions in First-of-Its-Kind Study of Patients Under Age 50

“Many clinicians are surprised when they find a precancerous polyp in someone younger than age 45. Our data provide new insights into how common these lesions are. Our data also suggest that clinically important lesions occur about five years earlier in individuals with a family history of colorectal cancer, compared to those without a family history,” says Dr. Itzkowitz. “That is why it is very important to take a good family history.”


“Cancer Family. The Search for the Cause of Hereditary Colorectal Cancer.” 

“The book explains his research ingrained with his very captivating family story. Boland discovered that the key factor in his family’s history of cancer was a hereditary mutation of a gene that caused, what he named, “Lynch Syndrome.””


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