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Jeffrey N Weitzel

Publications and source records attributed to Jeffrey N Weitzel.

16 recordsLinked to original sources
PubMed2006

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. SAMPLE: 134 women with breast or ovarian cancer (affected group) and 80 women with a family history of breast or ovarian cancer (unaffected group). The mean age of the sample was 48 years (range = 21-86), 79% were Caucasian, 66% were married, 60% were college educated, and 78% had children. Most affected women had early-stage disease. Unaffected women had a family history of breast (86%) or ovarian (14%) cancer. METHODS: Mailed surveys assessed pre-GCRA health behaviors and health and family histories. MAIN RESEARCH VARIABLES: Breast cancer screening (mammograms, clinical breast examination [CBE], breast self-examination), ovarian cancer screening (CA-125, pelvic ultrasound), and breast and ovarian cancer risk-reducing strategies (tamoxifen, bilateral mastectomy, oral contraceptive pills, bilateral salpingo-oophorectomy). FINDINGS: Twenty-one percent of the women who should have been having a mammogram had not had an annual examination as recommended, and 30% of affected women had not had annual CBEs. Few women took tamoxifen or oral contraceptive pills or had a bilateral salpingo-oophorectomy or bilateral mastectomy for cancer risk reduction. Twelve percent likely had unnecessary ovarian cancer screening. About 35% used other means, including herbs and homeopathy, for cancer prevention. CONCLUSIONS: Nearly a third of the affected women had not had appropriate breast cancer screening. About 12% used unsubstantiated, potentially harmful cancer "prevention" measures (e.g., herbs). IMPLICATIONS FOR NURSING: Nurses should assess clients' personal and family breast and ovarian cancer histories and promote cancer screening and risk-reducing behaviors that are appropriate for age and risk level.

Adult↗
PubMed2006

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. The reported data focus on 75.3% (n=235) of Latino respondents; mean age 43 years; 78% female; 72% less than high school education. Heredity was perceived as the most frequent cause of cancer, after smoking. Only 37% knew of free cancer screening programs. Over 85% expressed interest in obtaining information about personal cancer risk and motivation to participate in cancer genetics services. CONCLUSIONS: The results of this survey demonstrate an awareness of heredity as a potential cause of cancer. The observed high level of interest in cancer genetics services suggests the acceptability of cancer genetics services in this predominantly underserved Latino population. Furthermore, cancer genetics services would likely augment awareness and utilization of available cancer screening services in the community.

Adolescent↗
PubMed2006

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. Here we evaluate the Wijnen model and Myriad table at predicting the presence of a mutation in individuals undergoing genetic testing for HNPCC. Forty-nine patients who had undergone genetic testing for germline mutations in hMLH1 and/or hMSH2 were part of our analysis. Our results revealed that the revised Bethesda guidelines performed with the highest sensitivity for germline mutations (94.4%), however the specificity was low (12.9%). Using a 10.0% mutation probability threshold, the Wijnen model and Myriad table had sensitivities of 55.6 and 60.0%, respectively and specificities of 54.8 and 23.8%, respectively. The Wijnen model and Myriad table were poor predictors of mutation prevalence, which is shown by the areas underneath their corresponding receiver operator characteristic curves (0.616 and 0.400, respectively). The results of this study demonsrate that neither the Wijnen model nor the Myriad table are sensitive or specific enough to be used as the only indication when to offer genetic testing for HNPCC.

Adaptor Proteins, Signal Transducing↗
PubMed2005

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. Women who had been diagnosed with breast cancer were matched with unaffected control subjects for year of birth, country of residence, and mutation (BRCA1 or BRCA2). Study subjects completed a questionnaire detailing their reproductive histories. Odds ratios (ORs) and 95% confidence intervals (CIs) were derived by conditional logistic regression. Among BRCA1 carriers, parity per se was not associated with the risk of breast cancer (OR for parous vs. nulliparous = 0.94; 95% CI = 0.75-1.19; p = 0.62). However, women with a BRCA1 mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women (OR = 0.62; 95% CI = 0.41-0.94). In contrast, among BRCA2 carriers, increasing parity was associated with an increased risk of breast cancer; women with 2 or more children were at approximately 1.5 times the risk of breast cancer as nulliparous women (OR = 1.53; 95% CI = 1.01-2.32; p = 0.05). Among women with BRCA2 mutations and who were younger than age 50, the (adjusted) risk of breast cancer increased by 17% with each additional birth (OR = 1.17; 95% CI = 1.01-1.36; p = 0.03). There was no significant increase in the risk of breast cancer among BRCA2 carriers older than 50 (OR for each additional birth = 0.97; 95% CI = 0.58-1.53; p = 0.92). In the 2-year period following a birth, the risk of breast cancer in a BRCA2 carrier was increased by 70% compared to nulliparous controls (OR = 1.70; 95% CI = 0.97-3.0). There was a much smaller increase in breast cancer risk among BRCA2 carriers whose last birth was 5 or more years in the past (OR = 1.24; 95% CI = 0.79-1.95). A modest reduction in risk of breast cancer was observed among BRCA1 carriers with 4 or more births. Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy.

Adolescent↗
PubMed2005

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. METHODS Participants were competitively selected from a pool of board-certified/eligible genetic counseling, masters-trained advanced practice nursing and physician applicants. Preference was given to clinicians with strong institutional backing practicing in underserved regions. The Continuing Medical Education/Continuing Education Unit-accredited course included didactic lectures, workshops, counseling practicum, and case conferences. Pre- and postcourse knowledge tests measured cancer genetics knowledge. Six month and one-year postcourse practice outcome surveys measured the impact of the program on professional self-efficacy and continued professional development. RESULTS/CONCLUSIONS: Forty clinicians completed the course (23 genetic counselors, 14 nurses, and three physicians). There was a significant overall increase of 22.6% in postcourse knowledge scores (P < 0.001). Thirty-five (88%) completed prescribed practice development activities. Of 29 respondents to 1-year postcourse survey, 76% reported increased professional self-efficacy; 66% reported increase in number of patients seen, and virtually all indicated interest in additional training. Outcomes demonstrate the value and efficacy of interdisciplinary training in genetic cancer risk assessment targeted to motivated community-based clinicians. Courses such as this can help address the need for competent cancer risk assessment services in communities outside the academic health center.

Education, Medical, Continuing↗
PubMed2005

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. PURPOSE: To determine the degree of concordance of estrogen receptor (ER) status, tumor grade, and histology in tumors from women with bilateral breast cancer and a BRCA mutation. SUBJECTS AND METHODS: Women with a history of bilateral invasive breast cancers were selected from an international registry of women with BRCA1 or BRCA2 mutations. Medical records were reviewed to document the characteristics of each cancer and the treatments received. RESULTS: Data were available for 286 women with bilateral breast cancer and a BRCA mutation (211 BRCA1; 75 BRCA2). The mean interval between first and second tumor was 5.1 years. The two tumors were concordant more often than expected for ER status (P < 0.0001) and for grade (P < 0.0001), but not for histology (P = 0.55). The ER status of the first tumor was highly predictive of the ER status of the second tumor (odds ratio, 8.7; 95% confidence interval, 3.5-21.5; P < 0.0001). Neither age, menopausal status, oophorectomy nor tamoxifen use was predictive of the ER status of the second tumor. CONCLUSIONS: There is strong concordance in ER status and tumor grade between independent primary breast tumors in women with a BRCA mutation. The excess concordance may be due to common risk factors, genetic variation, or the existence of a preneoplastic lesion that is common to both tumors.

Adult↗
PubMed2005

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. The prevalence of BRCA mutations among high-risk Hispanic families is unknown. METHODS: One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/or ovarian cancer, presented for genetic cancer risk assessment, were enrolled in an Institutional Review Board-approved registry and underwent BRCA testing. Haplotype analyses were done if BRCA mutations were observed in two or more unrelated probands. RESULTS: Mean age at diagnosis was 37 years (range = 23-59) for the 89 (81%) probands with invasive breast cancer. Overall, 34 (30.9%) had deleterious mutations (25 in BRCA1, 9 in BRCA2), 25 (22.7%) had one or more unclassified variants, and 51 (46.4%) had negative results. The mean pretest mutation probability using the Couch model, Myriad model, and BRCAPro was 19.6% (range = 4-77%). The combined average mutation probability was 32.8% for carriers, 15.5% for noncarriers, and 12.9% for variant carriers (P < 0.0001). The most common deleterious mutation was 185delAG (4 of 34, 11.8%). The Hispanic 185delAG carrier families share the same haplotype from D17s1320 through BRCA1, as do two reference Ashkenazi Jewish families. Haplotype analyses of additional recurrent BRCA1 mutations [IVS5+1G>A (n=2),S955X (n = 3), R1443X (n = 3), and 2552delC (n = 2)] also suggest founder effects, with four of six mutations seen almost exclusively in families with Latin American/Caribbean or Spanish ancestry. CONCLUSION: This is the largest study to date of high-risk Hispanic families in the United States. Six recurrent mutations accounted for 47% (16 of 34) of the deleterious mutations in this cohort. The BRCA1185delAG mutation was prevalent (3.6%) in this clinic-based cohort of predominantly Mexican descent, and shared the Ashkenazi Jewish founder haplotype.

Adult↗
PubMed2004

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. Of the seven patients presenting with both diagnoses, paraffin blocks were available from five cases of colorectal cancer and six renal neoplasms. Five of six cases of renal tumors were informative and all were microsatellite instability (MSI) stable. One renal tumor was deemed inconclusive because of inadequate amplification. Four of five cases of rectal cancer were MSI stable. These data suggest that these renal and rectal tumors developed independently of a mismatch repair defect and that, unlike epithelial tumors of the renal collecting system, renal parenchymal lesions are unlikely to be part of the spectrum of hereditary nonpolyposis colorectal cancer.

Genetic Markers↗
PubMed2004

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.

Aged↗
PubMed2003

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. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment. RESULTS: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probability of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (P<.001). CONCLUSIONS: Genetic cancer risk assessment at the time of breast cancer diagnosis significantly affected women's treatment decisions. Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging.

Adult↗
PubMed2002

Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort.

Efficient genetic analysis of large exonic regions containing heterozygous mutations and common polymorphisms can be difficult. We have analyzed 30 patients for inherited susceptibility mutations (ISM) within exon 11 of the BRCA1 gene as part of an ongoing genetic epidemiological study of high-risk breast cancer (HRBC). A novel combination of restriction endonuclease fingerprinting (REF) and conformation sensitive gel electrophoresis (CSGE) was developed for rapid and efficient screening of mutations. This method (REF-CSGE) was compared side-by-side with standard CSGE and evaluated for both efficiency and sensitivity of detection. REF-CSGE detected 100% of the alterations found by CSGE. However, one variant was only detectable by REF-CSGE. All samples with variant bands were sequenced to confirm the nature of the alteration. In total, two small deletions (frameshifts) and 62 point mutations (60 known polymorphisms and two variants of unknown significance) were found in our cohort. The majority of the exon 11 polymorphisms detected are inherited as a linked haplotype. Point mutations that comprise these haplotypes could be simultaneously detected on a single gel by REF-CSGE, thereby decreasing the number of sequencing reactions necessary to elucidate heteroduplex patterns seen on CSGE gels. An analysis of the overall efficiency of both techniques revealed that REF-CSGE required 67% fewer confirmatory sequencing reactions, resulting in savings in both reagents and technician time.

Adult↗
PubMed2002

Development of a cancer genetics education program for clinicians.

BACKGROUND: There is a gap in knowledge about hereditary cancer and genetic testing among primary care practitioners. Education is needed to enable identification and management of patients at high risk for cancer. METHODS: A new cancer genetics curriculum was delivered through individual lectures and full-day conferences. Innovative marketing and conference organizational approaches were used to increase participation. RESULTS: The curriculum has been delivered to 7,400 health care professionals with diverse educational backgrounds. CONCLUSION: Conventional formats were successfully used to implement this new curriculum. CME evaluations indicated satisfaction with the programs and a clear need for and continued interest in cancer genetics applications.

Curriculum↗
PubMedDate not supplied

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. This article reports their demographics, health characteristics, family history, and beliefs about cancer risk, risk factors, and genetic testing. Most participants were in their 40s (mean age = 47.9), Caucasian (79%), married (66%), and college-educated (60%), and had children (78%). Most women (87%) had a close relative with breast cancer and/or ovarian cancer. In general, both groups greatly overestimated near-term and lifetime cancer risk. Significantly more unaffected women believed they were at higher risk for breast cancer than affected women. Both groups expressed desire for, but lacked knowledge of, genetic testing. Nurses are in a prime position to assist women seeking GCRA by providing accurate information and emotional support regarding cancer risk, risk factors, and genetic testing.

Adult↗