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B B Biesecker

Publications and source records attributed to B B Biesecker.

23 records · Page 2Linked to original sources
PubMed1995

Testing and counseling adults for heritable cancer risk.

A summary of recommendations from a breakout session of a Workshop on Hereditary Breast, Ovarian and Colon Cancer held in Washington, DC, in April 1994 is presented here. The focus of the session was the provision of testing and counseling services for adults at increased risk for developing cancer. Elements of service provision involving three time-points for counseling (pretest education, risk notification, and follow-up) and suggested areas of research are outlined for discussion.

Adult↗
PubMed1994

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.

Hereditary haemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, is an autosomal dominant vascular dysplasia of unknown pathogenesis leading to 'widespread' dermal, mucosal and visceral telangiectases and recurrent haemorrhage. We have mapped the HHT gene, by linkage analysis, to markers on 9q33-34 in two large multi-generation families. Haplotype analysis and mapping of recombination breakpoints gives a 4 cM interval between D9S61 and D9S63 as the most likely location of the gene. The closest marker, D9S65, is estimated to be within 1 cM of the gene and shows a combined lod score of 11.41. Two potential candidate genes, COL5A1 and ZNF79, are also located within 9q33-34. These results provide a starting point for the eventual cloning of the HHT gene.

Adult↗
PubMed1993

Genetic counseling for families with inherited susceptibility to breast and ovarian cancer.

Efforts are under way to isolate a gene (BRCA1) on chromosome 17q12-21. Mutations in this gene predispose women to breast and ovarian cancer. Women with germline mutations in BRCA1 are estimated to have an 85% lifetime risk of developing breast cancer and an increased but as yet undetermined risk of ovarian cancer. It is estimated that one in 200 to 400 American women may be carriers of BRCA1 mutations. We have identified several families that show linkage between breast and/or ovarian cancer and genetic markers that flank BRCA1. It is now possible, within these linked families, to prospectively identify family members likely to be carrying BRCA1 mutations. Because of profound and immediate clinical ramifications, we offered to provide this information to one such extended family. To provide information to this family, we developed a protocol to address the many issues that arise in the delivery of these services. Although testing for BRCA1 mutation carriers is currently limited to very rare families being analyzed for research purposes, this experience presages the complexities of the much larger scale availability of population screening for BRCA1 mutations, which is likely to become a reality in the next few years.

Breast Neoplasms↗
PubMed1990

Report of the 1989 Asilomar meeting on education in genetic counseling.

In September, 1989, 35 individuals representing training programs for genetic counselors and genetic nurse specialists, the Education Committee of the National Society of Genetic Counselors (NSGC), and others with interest and expertise in genetic counselor education met at Asilomar, CA. The purpose of this meeting was to reevaluate training program curricula, both didactic and experiential; to discuss the need for and desirability of advanced graduate education in genetic counseling; and to consider whether alternatives to master's-level training are needed to overcome a growing manpower shortage in the provision of genetics services. This article summarizes recommendations for master's-level training curricula, reviews options and implications for post-master's genetic counselor education, and examines issues related to training for people without a master's degree who also provide patient and community genetics education.

Education, Graduate↗