Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment.

Purpose: The impact of genetic cancer risk assessment on communication of cancer risk information within families is not fully known. We compared women's selection of family members for cancer risk communication and perceived barriers to this communication before genetic cancer risk assessment and 6 months afterward.

Methods: Mailed surveys were used to collect prospective data from consenting women undergoing genetic cancer risk assessment because of a personal and/or family history of breast or ovarian cancers.

Reduced mammographic density with use of a gonadotropin-releasing hormone agonist-based chemoprevention regimen in BRCA1 carriers.

Purpose: Women with a BRCA1 mutation (BRCA1(mut)) need risk reduction options beyond mastectomy and oophorectomy. We evaluated the efficacy, safety, and tolerability of hormonal chemoprevention with a gonadotropin-releasing hormone agonist (GnRHA) with low-dose add-back steroids in BRCA1(mut) carriers.

Experimental Design: The 12-month open label clinical trial used the GnRHA deslorelin, ultra-low-dose estradiol (E(2)), and replacement testosterone, administered via daily intranasal spray in premenopausal women with a BRCA1(mut), and intermittent oral medroxyprogesterone acetate.

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

An early age at first full-term birth is associated with a reduction in the subsequent development of breast cancer among women in the general population. A similar effect has not yet been reported among women who carry an inherited BRCA1 or BRCA2 mutation. We conducted a matched case-control study on 1816 pairs of women with a BRCA1 (n = 1405) or BRCA2 (n = 411) mutation in an attempt to elucidate the relationship between age at first full-term pregnancy and the risk of developing breast cancer.

If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort.

Background: Cancer genetic counseling and testing is a standard of care option for appropriate families and can identify individuals at increased risk prior to diagnosis, when prevention or detection strategies are most effective. Despite documented efficacy of cancer risk reduction in high-risk individuals, underserved and minority individuals have a disproportionate cancer burden and limited access to genetic counseling.

Methods: A needs assessment survey documented gaps in knowledge and interest in prevention.

Beliefs and interest in cancer risk in an underserved Latino cohort.

Objective: To measure beliefs about cancer causation, cancer screening behaviors, access to information about and resources for cancer screening, and interest in cancer genetics services in two underserved predominantly Latino communities.

Methods: An anonymous survey, in both English and Spanish, was distributed at the registration desk to all attendees of selected general medicine clinics in two underserved healthcare systems.

Results: There were a total of 312 respondents, representing 98% of eligible candidates.

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes.

Although the etiology of solid cancers is multifactorial, with environmental and genetic factors playing a variable role, a significant portion of the burden of cancer is accounted for by a heritable component. Increasingly, the heritable component of cancer predispositions has been linked to mutations in specific genes, and clinical interventions have been formulated for mutation carriers within affected families. The primary interventions for mutations carriers for highly penetrant syndromes such as multiple endocrine neoplasias, familial adenomatous polyposis, hereditary nonpolyposis colon cancer, and hereditary breast and ovarian cancer syndromes are primarily surgical.

ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes.

Background: A significant portion of cancers are accounted for by a heritable component, which has increasingly been linked to mutations in specific genes. Clinical interventions have been formulated for mutation carriers within affected families. The primary interventions for mutation carriers of highly penetrant syndromes are surgical.

Assessing the predictive accuracy of hMLH1 and hMSH2 mutation probability models.

Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by a susceptibility to colorectal and extra-colonic cancers. Several guidelines exist for the identification of families suspected of having HNPCC, however these guidelines lack adequate sensitivity and specificity. In an attempt to improve accuracy for the detection of individuals with HNPCC, the Wijnen pre-test probability model (1998) and Myriad Genetics Laboratory prevalence table (2004) were developed.

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

Context: Women with BRCA1 or BRCA2 mutation are often advised to undergo preventive oophorectomy. The effectiveness of this intervention has not been prospectively evaluated in a large cohort.

Objectives: To estimate the incidence of ovarian, fallopian tube, and primary peritoneal cancer in women who carry a deleterious mutation in BRCA1 or BRCA2.

Cancer screening and risk-reducing behaviors of women seeking genetic cancer risk assessment for breast and ovarian cancers.

Purpose/objectives: To examine breast and ovarian cancer screening and risk-reducing behaviors of women seeking genetic cancer risk assessment (GCRA).

Design: Descriptive, cross-sectional.

Setting: An insurance-based clinic that serves high-risk patients in a southern California cancer center.

Linkage of a pedigree drawing program and database to a program for determining BRCA mutation carrier probability.

An export module was developed for transferring primary relational pedigree data directly from a widely used pedigree program and relational database to the BRCAPRO program for calculation of BRCA gene mutation probability estimation.

Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update.

Women with a mutation in BRCA1 or BRCA2 face a lifetime risk of breast cancer of approximately 80%, and following the first diagnosis the 10-year risk of contralateral breast cancer is approximately 30%. It has been shown that both tamoxifen and oophorectomy prevent contralateral breast cancer, but it is not clear whether there is a benefit in giving tamoxifen to women who have previously undergone an oophorectomy. Furthermore, the relative degree of protection in BRCA1 and BRCA2 carriers has not been well evaluated.

Health beliefs of women with and without breast cancer seeking genetic cancer risk assessment.

Genetic cancer risk assessment (GCRA) is increasingly being incorporated into clinical care. Planning supportive nursing care for women seeking GCRA requires knowledge of their health beliefs. We described and compared the cancer risk-related beliefs of 134 women with a personal history of breast cancer (affected group) and 80 women without breast cancer who had a family history of the disease (unaffected group), prior to risk assessment, using a mailed survey.

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

Unlabelled: Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles.

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.

Early age at first birth and multiparity have been associated with a decrease in the risk of breast cancer in women in the general population. We examined whether this relationship is also present in women at high risk of breast cancer due to the presence of a mutation in either of the 2 breast cancer susceptibility genes, BRCA1 or BRCA2. We performed a matched case-control study of 1,260 pairs of women with known BRCA1 or BRCA2 mutations, recruited from North America, Europe and Israel.

A comparison of bilateral breast cancers in BRCA carriers.

Background: Women with breast cancer and a BRCA mutation have a high risk of developing a contralateral breast cancer. It is generally believed that the two cancers represent independent events. However, the extent of concordance between the first and second tumors with respect to hormone receptor expression and other pathologic features is unknown.

Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT.

We conducted linkage analysis of 80 candidate genes in 201 brother pairs affected with prostatic adenocarcinoma. Markers representing two adjacent candidate genes on chromosome 3p, CDC25A and FHIT, showed suggestive evidence for linkage with single-point identity-by-descent allele-sharing statistics. Fine-structure multipoint linkage analysis yielded a maximum LOD score of 3.

Outcomes from intensive training in genetic cancer risk counseling for clinicians.

Purpose: Genetic cancer risk assessment is an emerging interdisciplinary practice that requires knowledge of genetics and oncology and specialized patient and family counseling skills. There is a growing need for cancer risk assessment practitioners, but most clinicians have inadequate cross-disciplinary training. An interdisciplinary course was developed to promote practitioner-level competency in cancer risk assessment to community-based clinicians.

Prognostic indicators and survival in patients with stage IIIB inflammatory breast carcinoma after dose-intense chemotherapy.

Purpose: To improve treatment outcome for patients presenting with inflammatory breast cancer (IBC), we have sequentially developed and tested single and tandem dose-intense chemotherapy regimens (DICT). Tumor- and treatment-related factors were analyzed to generate a prognostic model.

Patients And Methods: Between May 1989 and April 2002, 120 patients received conventional-dose chemotherapy, surgery, and sequentially developed single- or tandem-cycle DICT.

Screening-detected breast cancer in a man with BRCA2 mutation: case report.

Current indications for breast cancer screening in the male population are lacking, although family history of breast cancer may be such an indication. The authors describe a man with a history of clinically diagnosed right breast cancer who subsequently tested positive for the breast cancer susceptibility gene BRCA2 and received a diagnosis of mammographically detected left breast cancer at screening. The authors discuss the clinical implications of this approach to detecting male breast cancer.

Microsatellite instability is a rare finding in tumors of patients with both primary renal and rectal neoplasms.

Multiple primary malignancies in an individual patient are thought to be a common feature of hereditary disease. Asymptomatic renal neoplasms have been described in up to 4% of rectal cancer patients. We have assessed whether microsatellite instability is present in the rectal and renal tumors of patients presenting at our institution with primary renal and rectal cancers.

Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis.

Hypothesis: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment.

Patients And Interventions: Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review board-approved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher.