J N Weitzel

..To determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA)...

..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...

..In this study, we investigate the association of variants in genes involved in IGF signaling and risk of breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations...

..An autosomal dominant pattern of hereditary breast cancer may be masked by small family size or transmission through males given sex-limited expression...

..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...

..Large rearrangements account for 8% to 15% of deleterious BRCA mutations, although none have been characterized previously in individuals of Mexican ancestry...

..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...

..This article will consider recent advances in the understanding of cancer genetics, and describe the state-of-the-art in terms of management of individuals with inherited susceptibility to breast and ovarian cancer...

..Thus, the HRAS1-variable number of tandem repeats locus may function as a modifier of ovarian cancer risk in both sporadic and hereditary ovarian cancer...

..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...

..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...

..This study explores social, cognitive and cultural variables in Latinas prior to undergoing GCRA...

..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...

..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...

..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...

..Many clinicians lack adequate knowledge about emerging standards of care related to genetic cancer risk assessment and the features of hereditary cancer needed to identify patients at risk...

..Stakeholders were divided as to whether the DA should be offered at-home versus only in a clinical setting. This well-received DA will be further tested to determine accessibility and effectiveness...

..15-5.66), Latina ethnicity (odds ratio [OR] 0.22, 95% CI, 0.09-0.53), and Spanish as primary language (OR, 0.17, 95% CI, 0.06-0.47) were independently associated with the belief that a clinician should be the informant...

..Additional research is needed to extend these findings and identify interventions to support positive outcomes of GCRA...

..To prepare oncology, genetics and molecular medicine professionals for basic, translational and epidemiological cancer genetics research through advanced training in a novel specialized cancer genetics career development program (CGCDP)...

..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...

..Better knowledge of GD and protective legislation, may facilitate non-genetics clinician utilization of genetics and personalized medicine...

..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...

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

..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...

..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...

..In this study, we examined the use of CRRM before versus after genetic cancer risk assessment (GCRA) in women diagnosed with breast cancer before age 50...

..Courses such as this can help address the need for competent cancer risk assessment services in communities outside the academic health center...

..In contrast, this variant, like other pVHL variants linked to Type 2A disease, fails to suppress JunB. This underscores that JunB may play a role in the pathogenesis of Type 2A VHL disease...

..Careful attention to evolving or additional clinical features is warranted and may lead to an alternate genetic diagnosis in families with early onset CRC...

..A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families...

..To describe nongenetics clinicians' perceptions and knowledge of cancer genetics and laws prohibiting genetic discrimination, attitudes toward the use of cancer genetic testing, and referral practices...

..Clinician concerns about potential genetic discrimination, and lack of information regarding protective legislation, may influence access to care...

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..We outline evidence supporting the pathogenicity of the identified hMSH6 mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis...

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..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...

..At least 7 models for estimating the probabilities of having a mutation are used widely in clinical and scientific activities; however, the merits and limitations of these models are not fully understood...

..The authors discuss the clinical implications of this approach to detecting male breast cancer...

..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..

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..The curriculum and delivery design may serve as a model for dissemination to other cancer centers to help address NCI priorities such as augmentation of familial registries (e.g. Cooperative Family Studies) ..

..The graduates of this program will reduce the burden of cancer among those at highest risk by translating cancer genetic epidemiology to individual risk assessment tools and acceptable interventions. ..