That is the conclusion of a study at Fox Chase Cancer Center exploring how families communicate genetic test results.
Like their female relatives, fathers, sons or brothers can also harbor a mutation in the BRCA 1 or 2 genes. Male carriers of these mutations, more commonly called the breast cancer genes, face a 14 percent lifetime risk of developing prostate cancer as well as a 6 percent lifetime risk of developing breast cancer.
Despite these health implications, we have found a lack of understanding of genetic test results among men in these families, said Mary B. Daly, M.D., Ph.D., senior vice president for population science at Fox Chase and lead author of the new research presented at the San Antonio Breast Cancer Symposium today.
Daly and her colleagues interviewed 24 men, each with a first-degree female relative who tested positive for having a BRCA1 or BRCA2 mutation. The women reported telling the results of their genetic test result to the male relative in the study, though only 18 of the men remember receiving the results.
Daly said what they learned demonstrates a level of cognitive and emotional distance that men experience from the genetic testing process.
Nearly half of the men (seven) who remembered receiving results did not believe that the test results increased their own risk of cancer. Only five (28 percent) could correctly identify their chance of being a mutation carrier.
We devote a significant amount of time learning how best to communicate genetic test results to women, but this study shows we also need to help them communicate the information to their male family members who may be impacted by the test results, concluded Daly.
Fourteen of the 18 men who recalled receiving the results expressed some level of concern about the meaning of the test result, but most (11) directed their concern toward other family members, primarily daughters and sisters.
Based on the responses, we were not surprised to learn that the level of interest in genetic testing was relatively low. Of the six men who did express interest, half said they'd do it for their children's sake.
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In addition to Blankenship, the paper's other WUSTL co-author is Susan K. Dutcher, Ph.D., professor of genetics and interim chair of the genetics department in the Washington University School of Medicine.
Dutcher's interest in the moss gene comes from her desire to understand cilia, tiny organelles that project from the surface of most human cells. She hopes that the Physcomitrella genome will be used to understand human health as well as to understand plant development.
"We have been interested for the last few years in the BBS genes (Bardet Biedl Syndrome)," said Dutcher. "Children with mutations in these genes develop kidney and eye disease as well as diabetes. Comparative genomics with Physcomitrella suggests that these genes are needed in cilia in people for sensing intracellular environment. As we continue to analyze the Physcomitrella genome by comparative genomics, we are likely to be able to find other interesting genes that impact human health."
In fact, the Quatrano lab, in collaboration with the WUSTL lab of Raphael Kopan, Ph.D., in the Department of Molecular Biology and Pharmacology, recently published a paper on the function of a gene in moss called presenilin that is very similar to a gene in humans that has been implicated in Alzheimer's disease.
Quatrano's interest in the moss genome focuses on genes that give the plant drought tolerance. Once these genes are identified, it is possible that they might be genetically engineered into other plants, including food crops, to make them resistant to drought, a boon for Third World countries.
Scientists also will scrutinize the moss genome for examples of genes that are conserved ” ones that appear in moss as well as other organisms, including humans ” and try to discern their function.
Quatrano cited the efforts of Washington University post-doctoral researcher Pierre-Fran?§ois Perroud, Ph.D., who isolated the moss DNA that JGI used to sequence the entire genome, as well as helping to identify contaminating sequences that were not in the moss genome. Also, David Cove from the UK was a visiting professor at WUSTL during this time and played an important consulting role in all aspects of the project. Support for Quatrano's lab effort came from National Science Foundation grants and from Washington University.
Quatrano says the process of accumulating scientists, annotating the assembled genome and publishing the paper, while long and difficult, is well worth the effort that he and his colleagues around the globe made.
"It's a great achievement, a real watershed in plant genomics," Quatrano said.
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