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Cold cases gone hot: Montreal researchers solve decades-old medical mysteries using genetics
Date:1/28/2011

This release is available in French.

Montreal, January 28, 2011 The mystery began in 1976. Adolfo Pampena was diagnosed with a rare form of cancer that caused a strange combination of symptoms and was associated with the occurrence of multiple tumours in his stomach and colon. His medical team was stumped and was unable to answer the most important questions for him and his family: the cause of his disease and the risk for future generations.

Now, 35 years later, the answers are at hand thanks to a genetic study led by investigators at the Research Institute of the McGill University Health Centre (RI MUHC), the McGill Program in Cancer Genetics at the Gerald Bronfman Centre for Clinical Research in Oncology and the Lady Davis Institute for Medical Research at the Jewish General Hospital. The study was recently published in The New England Journal of Medicine.

The researchers were able to pinpoint the gene responsible for the disease (BUB1B), which is involved in the regulation of chromosomal separation. Instability during cell division can result in chromosomes ending up in the wrong place, which can lead to the development of tumours. "The general significance of this discovery is that individuals can be seen at our genetic clinic with an unknown condition and end up with a diagnosis that is relevant to patients and their families," said Dr. William Foulkes, senior author of the study and a researcher in genetics at the RI MUHC, the Lady Davis Institute.

"My father and family were relieved that the cancer risk for other family members is much less than we thought," said Mary Pampena, Adolfo's daughter. "Now we know more about my father's genetic history and the cancers he had. We know what screening test to do in the future. This is important information for us, our children and future generations."

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Contact: Julie Robert
julie.robert@muhc.mcgill.ca
51-493-419-347-1381
McGill University Health Centre
Source:Eurekalert

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