We’ve been very interested in familial breast cancer and the contribution of genes like BRCA1 and BRCA2 that predispose families to breast cancer. We’re very interested in looking at the genetic basis of breast cancer in young women. As a result of that investigation, we’re hoping to develop better tools and better methods to manage triple-negative breast cancer, because that’s what we see to be over-represented in young African American women and women with BRCA1 mutations.
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I was attracted to studies of cancer families because epidemiological studies show that virtually all cancers manifest a tendency to aggregate in families. Close relatives of a cancer patient are at increased risk of that neoplasm, and perhaps other forms of cancer. The excess site-specific cancer risk is exceptionally high for carriers of certain cancer genes, in whom the attack rate can approach 100 percent. In candidate cancer families, the possibility that clustering is on the basis of chance must be excluded through epidemiological studies that establish the presence of an excess cancer risk. Predisposed families are candidates for laboratory studies to identify the inherited susceptibility factors. These investigations have led to the identification and isolation of human cancer genes, the tumor suppressor genes. These cancer genes are among more than 200 single-gene traits associated with the development of cancer. Approximately a dozen inherited susceptibility genes have been definitively identified, and many more are being sought. From studies of retinoblastoma and other rare cancers, important new information was generated about the fundamental biology of cancers that arise in many patients. Isolation of an inherited cancer susceptibility gene provides opportunities for presymptomatic testing of at-risk relatives. However, testing of healthy individuals also raise important issues regarding informed consent, confidentiality and potential for adverse psychological, social and economic effects.
Triple-negative breast cancer is not the majority of breast cancer. But if we have drugs that can target the genetic abnormalities in these tumors, and we are able to rapidly conduct global clinical trials, not only can we get studies done quickly, but we can also make it possible for women all over the world to participate in the cures of tomorrow.
Women are the backbone of any family. Therefore, we are the foundation of any society. When we get it right at the level of the family, things will be right with the society. When the society is troubled, then the problem actually started from the family. When we get it right in the family, everything finds its place in the society. My message to mothers is to be supportive of their husbands and every member of the family.
We already know which genes in one chromosome are responsible for Tay-Sachs disease, which afflicts Jews with a fatal disorder. That already permits us to do genetic counseling of young couples with the gene who may want to marry: ‘Since you both carry a defective chromosome, better not have children.
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