DNAprint Genomics (DNAG)

[mingwan0]

J Fernando Arena

One of the people who was previously on the DNAP Scientific Advisory Board (SAB), but who is now not listed as such in the 10K or on the company website, is Jose Fernando Arena MD.

We knew that Jose was (is) Director of Translational Research, Familial Ovarian Cancer Center, Jackson Memorial Hospital & University of Miami:

http://um-jmh.org/fobcc/arena.html

Now, according to this NCI Cancer Bulletin from February 10 2004 he is also at the NCI:

http://www.cancer.gov/NCICancerBulletin/NCI_Cancer_Bulletin_021004.pdf

RFA-GM-04-002
Letter of Intent Receipt Date: July 19, 2004
Application Receipt Date: Aug. 19, 2004

Applications are invited for an open recompetition of the Pharmacogenetics Research Network and Knowledge Base. This is a network of multidisciplinary, collaborative groups of investigators that contribute their data to the publicly available knowledge base PharmGKB, which is an open research tool accessible to all scientists. NCI is interested in projects that can potentially lead to meaningful improvements in clinical and survival end points and in studies of genetic variability in human populations that may influence risk of preneoplastic conditions or primary and secondary malignancies after exposure to medications, including cancer therapies.

For information see http://cri.nci.nih.gov. Inquiries: Dr. Ken Kobayashi, [e-mail]; Dr. J. Fernando Arena, [e-mail].

Here is another reference to Jose:

http://epi.grants.cancer.gov/staff.html

J. Fernando Arena, M.D., Ph.D.
Program Director
Clinical and Genetic Epidemiology Research Branch (CGERB)

I can see that this role might perhaps prohibit being a member of the DNAP SAB, as there would be a potential conflict of interest.

The Pharmacogenetics Research Network and Knowledge Base is something I have posted about before. Here it is:

http://www.nigms.nih.gov/pharmacogenetics/

Here are the details of the RFA mentioned above:

http://grants.nih.gov/grants/guide/rfa-files/RFA-GM-04-002.html

There is a commitment to provide $25 million in FY 2005 to fund approximately 10 to 12 new and/or continuation grants in response to this RFA. As far as I can see private companies such as DNAP are eligible to apply for this.

It seems that Jose is still with the University of Miami as well as the NCI:

http://medgen.med.miami.edu/research/ongoing_projects.asp

CANCER GENETICS

Title Genetic Investigations of African-American Breast Cancer and Cancer Education and Prevention in the African-American community.
Abstract Breast cancer (BC) incidence and mortality rate in African-Americans (AA) exceeds that in Caucasians in women less than 50 years old. This may be due to increased exposure to known or unknown risk factors, decreased exposure to protective factors, and/or due to genetic factors. With the discovery of BRCA1 and BRCA2, associated with increased risk for breast cancer, technology exists to analyze the distribution and prevalence of gene alterations in at-risk groups. Our group is focused on three aspects of breast cancer in the African-American community:
Increased efficiency in detection of BRCA1 and BRCA2 mutations in at-risk AA patients.
Investigation of other possible contributory genetic factors specific to AA breast cancer.
Dissemination of information on cancer to the underserved communities of South Florida.

Funded by The Department of Defense, the Sylvester Comprehensive Cancer Center, and the Woman’s Cancer Association.
Team Lisa Baumbach Ph.D. (P.I.), Luis Gayol Ph.D. (Senior Research Associate), Genetics Associate- TBA.
Collaborators Fernando Arena M.D. Ph.D., University of Miami and the National Cancer Institute.
Recruitment Criteria Confirmed diagnoses of breast and/or ovarian cancer or a family history of these cancers.

This work previously involved Myriad Genetics, as this abstract from 2001 shows:

http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v27/n4s/full/ng0401supp_41d.html

Completed BRCA1/BRCA2 mutation analysis reveals a low rate of germline mutation in at-risk African American families

Lisa Baumbach-Reardon1, Luis Gayol1, Tom Scholl2, Hugo Basterrechea1, Selina Smith1 & J. Fernando Arena1

1. University of Miami School of Medicine, Miami, Florida, USA
2. Myriad Genetics, Inc., Salt Lake City, Utah, USA

The incidence of BRCA1 germline mutations in at-risk individuals is controversial. In Caucasians the rate of detection of BRCA1 mutations varies from 5% to 40%. The incidence of BRCA1 mutations and genetic variants in at-risk African Americans has been reported to range from very low to levels equal to those in Caucasians. We report the results of completed BRCA1 and BRCA2 analyses in 20 African American families at risk for breast or ovarian cancer. Families were selected on the basis of a history of breast cancer or breast and ovarian cancer and further subdivided into the following categories: high-risk (three affected first-degree relatives; ten families), moderate-risk (two affected first-degree relatives; seven families) and undetermined-risk (single affected first-degree relative, with medical information being updated). BRCA1 and BRCA2 germline alterations were first detected using a series of exon-specific polymerase chain reaction primers for single-strand conformation polymorphism analysis; this was followed by DNA sequencing of polymorphism variants. A limited number of BRCA1 polymorphic intronic variants detected as a result of these studies were also analyzed for their effect on BRCA1 mRNA splicing using an assay developed by Myriad Genetics. In this cohort we detected one protein-truncating mutation in either BRCA1 or BRCA2 (1/20; 5%). However, we detected splice mutations, missense mutations and several polymorphic variants in both BRCA1 and BRCA2, with a much higher frequency in BRCA2. Many of these variants were both new and specific to African American patients; they also occurred in the absence of another disease-causing mutation. Moreover, a new BRCA1 missense mutation in one of the high-risk families, exon 19(W1718C), seems to co-segregate with breast cancer. We will report the relative frequencies of these BRCA1 and BRCA2 variants in patient and control populations. These results agree with previous observations that deleterious mutations in BRCA1 or BRCA2 are uncommon in at-risk African American patients. They indicate that more benign variants should be further evaluated for their potential role in the disease process in these patients and that additional, as yet unidentified, genetic factors may contribute to breast cancer risk in African American families.