Docetaxel administered on a weekly basis for metastatic breast cancer.

Purpose: To evaluate the safety and efficacy of weekly docetaxel in women with metastatic breast cancer.

Patients And Methods: Twenty-nine women were enrolled onto a study of weekly docetaxel given at 40 mg/m(2)/wk. Each cycle consisted of 6 weeks of therapy followed by a 2-week treatment break, repeated until disease progression or removal from study for toxicity or patient preference.

Behavioral risk factors among women presenting for genetic testing.

Considerable research attention has been given to the impact of genetic testing on psychological outcomes. Participation in genetic testing also may impact on health behaviors that increase the risk of cancer and other chronic diseases. The purpose of this study is to describe behavioral cancer risk factors of women who requested genetic testing for breast and ovarian cancer susceptibility (BRCA1, BRCA2).

Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations.

Context: Women with BRCA1- or BRCA2-associated breast cancer are at increased risk for contralateral breast cancer and ovarian cancer and therefore may consider secondary cancer prevention strategies, such as prophylactic surgery and tamoxifen therapy. It is not proven to what extent these strategies reduce risk of second cancers in such patients.

Objective: To examine the effect of tamoxifen therapy, bilateral prophylactic oophorectomy (PO), prophylactic contralateral mastectomy (PCM), and combinations of these strategies on life expectancy for women with unilateral breast cancer and a BRCA1 or BRCA2 gene mutation.

Serum CTX: a new marker of bone resorption that shows treatment effect more often than other markers because of low coefficient of variability and large changes with bisphosphonate therapy.

Serum CrossLaps is a new assay for measuring carboxy-terminal collagen crosslinks (CTX) in serum. This measurement is reported to be more specific to bone resorption than other measurements. However, the utility of this and other markers in monitoring patients on antiresorptive therapy depends on how often changes anticipated with therapy exceed changes attributable to random variability.

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in the TP53 gene. These observations suggest that hCHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and they also provide a link between the central role of p53 inactivation in human cancer and the well-defined G2 checkpoint in yeast.

Prevalence of germline truncating mutations in ATM in women with a second breast cancer after radiation therapy for a contralateral tumor.

Patients treated with conservative surgery and radiation therapy for early-stage breast cancer develop a contralateral breast cancer at a rate of approximately 0.75% per year. Ataxia-telangiectasia (AT) is an autosomal recessive disease that is characterized by increased sensitivity to ionizing radiation (IR) and cancer susceptibility.

Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2.

Background: Early age at first full-term pregnancy and increasing parity are associated with a reduced risk of breast cancer. However, whether pregnancy decreases the risk of early-onset hereditary breast cancer is unknown. There is concern that pregnancy may increase breast-cancer risk in carriers of BRCA1 and BRCA2 germline mutations.

Case Report-Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer.

A client's emotional experiences and reactions to those experiences are influenced by his/her family of origin and direct or indirect interactions with various family members. Contextual therapists propose that a client's satisfaction with a relationship depends on the equity of his/her emotional interactions with family members. When relationships are inequitable, trust between individuals disintegrates.

Germ-line msh6 mutations in colorectal cancer families.

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are rare. We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC cases. Among the 91 population-based familial non-HNPCC cases, germ-line msh6 mutations were found in 6 patients (7.

Gangliocytoma masquerading as a prolactinoma. Case report.

The authors describe the case of a 36-year-old man who presented with bitemporal hemianopsia and a serum prolactin concentration of 1440 ng/ml. Magnetic resonance imaging of the pituitary revealed a presumed macroadenoma with suprasellar and temporal lobe extension. Although the patient's prolactin level was lowered to 55 ng/ml by bromocriptine therapy, no tumor shrinkage occurred.

Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.

Background: The availability of genetic testing for inherited mutations in the BRCA1 gene provides potentially valuable information to women at high risk of breast or ovarian cancer; however, carriers of BRCA1 mutations have few clinical management options to reduce their cancer risk. Decreases in ovarian hormone exposure following bilateral prophylactic oophorectomy (i.e.

p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome.

The Li-Fraumeni Syndrome (LFS) is a rare, dominantly inherited syndrome that features high risk of cancers in childhood and early adulthood. Affected families tend to develop bone and soft tissue sarcomas, breast cancers, brain tumors, leukemias, and adrenocortical carcinomas. In some kindreds, the genetic abnormality associated with this cancer phenotype is a heterozygous germline mutation in the p53 tumor suppressor gene.

Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

Context: Genetic testing for cancer predisposition is evolving from purely research applications to affecting clinical management.

Objective: To determine how often genetic test results for hereditary nonpolyposis colorectal cancer (HNPCC) can be definitively interpreted and used to guide clinical management.

Design: Case-series study conducted in 1996 to 1998 in which a complete sequence analysis of hMSH2 and hMLH1 coding sequence and flanking intronic regions was performed.

The impact of a brief coping skills intervention on adherence to breast self-examination among first-degree relatives of newly diagnosed breast cancer patients.

The present investigation sought to determine (1) the impact of a single session stress management/coping intervention (problem-solving training; PST) versus a general health counseling (GHC) control condition on breast self-examination (BSE) adherence among relatives of newly diagnosed breast cancer patients, and (2) whether women with heightened perceived risk of breast cancer and/or cancer specific distress at baseline were more likely to improve their BSE adherence following PST. The participants were 510 women age 20-75 who had at least one first-degree relative with breast cancer. All of the participants completed a baseline telephone interview, an intervention (PST versus GHC), and a 3-month follow-up telephone interview.

Alternative intrathecal agents for the treatment of pain.

There is a need to develop alternative agents for intrathecal pain therapy for patients who either cannot tolerate the side effects of or who no longer obtain sufficient analgesia with opioids. The experimental use of several compounds in intrathecal drug delivery is currently in progress, with the development of clonidine as the single most important advance in the improvement of pain treatment. Clonidine, an α(2) -adrenergic receptor agonist, appears to be safe and effective in the treatment of cancer and nonmalignant pain, with its effects most pronounced in patients whose pain consists of a neuropathic component.

Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations.

Background: Predisposition genetic testing is now possible for many hereditary cancer syndromes, including hereditary nonpolyposis colorectal cancer. The optimal management of the elevated risk for cancer in carriers of mutations for hereditary nonpolyposis colorectal cancer is unclear.

Objective: To assess the life expectancy and quality-adjusted life expectancy benefits derived from endoscopic surveillance and prophylactic colectomy for persons who carry a mutation associated with hereditary nonpolyposis colorectal cancer.

Concordance between mothers' and children's reports of somatic and emotional symptoms in patients with recurrent abdominal pain or emotional disorders.

Mother-child concordance regarding children's somatic and emotional symptoms was assessed in children with recurrent abdominal pain (n = 88), emotional disorders (n = 51), and well children (n = 56). Children between 6 and 18 years of age and their mothers completed questionnaires assessing the children's somatic symptoms, functional disability, and depression. Mothers of children with recurrent abdominal pain reported more child somatic and depressive symptoms than did their children, and mothers of children with emotional disorders reported more child depressive symptoms than did their children.

Utility of biochemical markers of bone turnover in the follow-up of patients treated with bisphosphonates.

Biochemical markers of bone turnover are often measured in patients treated with antiresorptive agents to monitor the effects of therapy. In order for a change in these markers to clearly indicate treatment effect, the change in the markers must exceed the amount of spontaneous variation typically seen with no treatment. Based on the measured long-term variability of markers in untreated patients, we defined a minimum significant change (MSC), that is, a change that was sufficiently large that it was unlikely to be due to spontaneous variability.

The impact of a brief problem-solving training intervention for relatives of recently diagnosed breast cancer patients.

Previous studies have found high levels of psychological distress in women who have a family history of breast cancer. We evaluated a brief Problem-Solving Training (PST) intervention designed to reduce distress among women with a first-degree relative recently diagnosed with this disease. Participants were randomly assigned to either the PST group (N = 144) or a General Health Counseling (GHC) control group (N = 197).

Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer.

Heterozygous germline mutations in PTEN are responsible for most cases of Cowden Syndrome, a rare familial trait characterized by hamartomas and by predisposition to cancer of the breast and thyroid. The variable and often subtle clinical findings that characterize Cowden Syndrome are frequently unrecognized, raising the possibility that germline PTEN mutations may confer susceptibility to breast cancer in women who have not been diagnosed with this syndrome. To determine whether such mutations contribute to genetic predisposition to breast cancer within the general population, we analysed a cohort of women with early-onset breast cancer (< age 40), a subset of the population at increased risk for genetic susceptibility.

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

Purpose: Previous studies of mutations in BRCA1 or BRCA2 have used detection methods that may underestimate the actual frequency of mutations and have analyzed women using heterogeneous criteria for risk of hereditary cancer.

Patients And Methods: A total of 238 women with breast cancer before age 50 or ovarian cancer at any age and at least one first- or second-degree relative with either diagnosis underwent sequence analysis of BRCA1 followed by analysis of BRCA2 (except for 27 women who declined analysis of BRCA2 after a deleterious mutation was discovered in BRCA1). Results were correlated with personal and family history of malignancy.