An uncommon challenge
Research into rare cancers has the potential to help not
only families at risk for such diseases, but all of us
By Robert Levy
Inherited cancers are a concern for each new generation.
They are biological lightning strikes — inherited cancer syndromes that occur so rarely, most people have never heard of them, and most physicians have never encountered them. Zig-zagging through generations of particular families, they make themselves known by the patterns of disease they create: a young mother with breast cancer, for example, and her son with a type of tumor almost unknown in children.
Though such syndromes are unusual in themselves, as a group they cover a catalogue of ills. One places children at risk for bone marrow failure and head and neck cancers later in life. Another makes patients susceptible to organ damage and tumors teeming with blood vessels. The infrequency with which these syndromes arise means they may be slow to be recognized and diagnosed, leaving doctors and families uncertain about how best to treat them.
One of the most devastating aspects of these conditions is that their targets are often children. (Indeed, one of the reasons they're so unusual may be that, for most of human history, their victims often were too young to have children themselves. As a result, the genetic errors that gave rise to them were largely winnowed from the gene pool.)
How rare are such conditions? Some are found in one in tens of thousands of individuals; others, in one of millions. For patients, the result can be a sense of isolation as powerful as the symptoms of the disease itself. They may be the only person within hundreds of miles to have that particular condition. Traditional support groups are apt to be nonexistent. For many patients, Internet-based bulletin boards and chat groups are the best way to exchange information, share experiences, and offer each other hope.
The study of rare, inherited cancer syndromes offers scientists a manageable way of mining truths about basic biological functions that could help many.
Yet while these disorders affect only a small number of individuals, research into them could benefit millions. It turns out that the same genetic errors responsible for rare, inherited cancers are also involved in some common non-inherited cancers. A faulty gene linked to one rare condition, for example, is found in half of all non-hereditary kidney cancers.
For scientists, the study of inherited cancer syndromes also offers a manageable way to mine truths about basic biological functions.
To determine whether a particular gene is involved in cancer, scientists generally "knock out," or disable, the gene to see whether cancerous tumors form. In the case of hereditary cancers, it's as though nature itself has done the experiment. When one of these cancers arises, researchers know it's the result of a defective gene — and, in an increasing number of instances, know precisely which gene is to blame.
The reasons for studying hereditary cancer syndromes are particularly compelling when the syndromes are rare. Because the number of affected families is so small — sometimes just a few hundred worldwide — investigators can truly "get their arms around" the syndrome in a way that would be nearly impossible with more common maladies such as lung or prostate cancer. Researchers can collect tissue samples from a limited number of patients and know their collection includes a good portion of the condition's global cases.
This article focuses on three Dana-Farber investigators who specialize in rare cancer syndromes and the insights they've gained.
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