Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population.

Background: The frequency and characteristics of disease in individuals who concomitantly harbor pathogenic mutations in both BRCA1 and BRCA2 genes are not established.

Materials And Methods: Data were collected from the database of Clalit Health Services National Familial Cancer Consultation Service. Probands referred to this clinical service and their family members are routinely tested for the three Jewish founder mutations (BRCA1: 185delAG, 5382insC, BRCA2: 6174delT).

Mutation screening using fluorescence multiplex denaturing gradient gel electrophoresis (FMD): detecting mutations in the BRCA1 gene.

Fluorescent multiplex denaturing gradient gel electrophoresis (FMD) is a mutation screening technique designed to detect unknown as well as previously identified mutations. FMD constitutes a recent modification of the standard denaturing gradient gel electrophoresis (DGGE) technique, which combines multiplex PCR amplification of target DNA using fluorescently labeled primers with DGGE separation of the amplicon mixture, allowing immediate identification of sequence variants by wet gel scanning. FMD permits the simultaneous detection of small insertions, deletions and single nucleotide substitutions among multiple DNA fragments (up to 480 fragments) from 96 samples in parallel for each run.

Women's rights to reproductive and sexual health in a global context.

The worldwide burden of reproductive and sexual ill-health falls disproportionately on women belonging to vulnerable and disadvantaged groups. Women's rights to reproductive and sexual health, as protected under national constitutions as well as regional and international human rights treaties, require that health systems account for the distinctive needs and circumstances both of and among women. The purpose of this article is to investigate what we can do as advocates to ensure that the reproductive and sexual health rights of all women are respected, protected, and enforced, both internationally and in Canada.

Modifiers of risk of hereditary breast cancer.

Mutations in the BRCA1 and BRCA2 genes confer a high lifetime risk of breast and ovarian cancer. The risk varies from individual to individual, and it appears that the risk has increased in recent generations. These observations imply that non-genetic factors may modify the inherited risk.

The costs of planned cesarean versus planned vaginal birth in the Term Breech Trial.

Background: The Term Breech Trial compared the safety of planned cesarean and planned vaginal birth for breech presentations at term. The combined outcome of perinatal or neonatal death and serious neonatal morbidity was found to be significantly lower among babies delivered by planned cesarean section. In this study we conducted a cost analysis of the 2 approaches to breech presentations at delivery.

A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene.

Screening for mutations in the BRCA1 gene is challenging because of the wide spectrum of mutations found in this large gene. As the extensive exon 11 is commonly screened by the protein truncation test (PTT), here a fluorescent multiplex denaturing gradient gel electrophoresis (FMD) mutation screening technique was developed to test the remaining numerous small exons and splice sites of the gene. The method is based upon the use of an efficient multiplex polymerase chain reaction (PCR) amplification of the target regions, followed by denaturing gradient gel electrophoresis (DGGE) separation of the amplicon mixture, and the immediate achievement of results by wet gel scanning.

Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers.

Objective: To estimate the likelihood of occult cancer diagnosis at prophylactic oophorectomy in BRCA1 and BRCA2 carriers in different age groups and to determine the histopathology of these lesions.

Methods: We describe a series of 159 female BRCA1 or BRCA2 carriers who underwent prophylactic oophorectomy at the University Health Network, Toronto from January 1, 1992 to June 30, 2004.

Results: Seven (4.

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.

Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.

Purpose: To compare the presentation of invasive breast cancer in BRCA1 and BRCA2 mutation carriers with and without prior bilateral oophorectomy.

Patients And Methods: Women with a BRCA1 or BRCA2 mutation with the diagnosis of invasive breast cancer were identified from ten cancer genetics clinics. The medical history, medical treatment records and pathology reports for the breast cancers were reviewed.

Prophylactic bilateral mastectomy for breast cancer prevention.

Prophylactic bilateral mastectomy, or preventive removal of the breasts, is an option for women who are at increased risk of developing breast cancer. Among the highest risk groups are those women with a significant family history of breast cancer and those with a known genetic predisposition to the disease. There are many issues surrounding prophylactic mastectomy.

Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications.

Multiple primary cancers are characteristic of hereditary cancer syndromes. A familial association between breast and thyroid cancer has been suggested, but a genetic basis for this association has not yet been established. To determine the extent to which double primary cancers of the breast and thyroid are due to common hereditary factors, we conducted a registry- and hospital-based study in Ontario and Quebec.

Breech vaginal delivery at or near term.

Three percent to 4% of term fetuses will be breech at delivery. Evidence from randomized controlled trials has found a policy of planned cesarean section to be significantly better for the singleton fetus in breech presentation at term compared to a policy of planned vaginal birth. However, some women may wish to avoid cesarean section and for others, cesarean section may not be possible.

Impact of the international term breech trial on clinical practice and concerns: a survey of centre collaborators.

Objective: The purpose of this study was to determine what impact the International Term Breech Trial had had in different settings and to elicit any concerns among collaborators regarding the implementation of a policy of planned Caesarean section for term breech babies.

Methods: We mailed a questionnaire to all Term Breech Trial collaborators. The questionnaire asked 3 open-ended questions about the impact of the trial, about concerns with implementing planned Caesarean section for term breech babies, and about whether information as to the relative costs of planned Caesarean section versus planned vaginal birth would be helpful.

Cesarean delivery for twins: a systematic review and meta-analysis.

Objective: We undertook a systematic review and meta-analysis to determine whether a policy of planned cesarean section or vaginal delivery is better for twins.

Study Design: We searched MEDLINE and EMBASE from 1980 through May 2001 using combinations of the following terms: twin, delivery, cesarean section, vaginal birth, birth weight, and gestational age. Studies that compared planned cesarean section to planned vaginal birth for babies weighing at least 1500 g or reaching at least 32 weeks' gestation were included.

Breast cancer risk perception among women who have undergone prophylactic bilateral mastectomy.

Background: Prophylactic bilateral mastectomy is a preventive option for women who are at high risk of developing breast cancer. We compared the perceptions of breast cancer risk among women who had previously undergone prophylactic bilateral mastectomy with objective estimates of their breast cancer risk.

Methods: We asked 75 women in the Canadian province of Ontario who had undergone prophylactic bilateral mastectomy between 1991 and 2000 to provide a complete family history of the cancers that had occurred by the time of their surgery and to indicate their BRCA1 and BRCA2 gene mutation status.

Promotion of healthy eating among new immigrant women in Ontario.

Little attention has been given to the dietary patterns of new immigrant women in Canada. Research suggests that before migration, many immigrants, especially those from non-Western countries, consume a healthy diet, but this changes on migration. This paper presents information from a recently completed literature review conducted for the Women's Health Council of the Ontario Ministry of Health and Long-Term Care.

Prophylactic bilateral mastectomy: patterns of practice.

Background: Many women who are at an elevated risk of developing breast carcinoma choose prophylactic mastectomy to decrease their risk. We conducted a population-based study to review the indications for, and patterns of practice of prophylactic mastectomy in Ontario, Canada, since 1991.

Methods: A medical chart review was conducted at 33 hospitals that were identified as having conducted at least one prophylactic mastectomy.

Representation of women's health in general medical versus women's health specialty journals: a content analysis.

BACKGROUND: Women's health, traditionally defined, emphasises reproductive and maternal conditions without consideration of social contexts. Advocates urge a broader conceptualisation. The medical literature influences the definitions and delivery of women's health care.

Crossing international boundaries: implications for the Term Breech Trial Data Coordinating Centre.

The Term Breech Trial (TBT) is a multicenter, international randomized trial that compared a policy of planned cesarean section with a policy of planned vaginal birth for selected pregnancies with a fetus in breech presentation at term. The TBT involved 121 centers in 26 countries that recruited 2088 women between January 9, 1997 and April 21, 2000. This paper briefly describes the impact of broad international collaboration on data coordinating center activities, including center selection, obtaining ethics approvals, data management, center funding, and recruitment.

The role of physicians in mammography referral for older Caribbean women in Canada.

Background: Despite the fact that the proportion of immigrant and minority women who consult a general practitioner about their health is similar to that of their Canadian-born counterparts, studies suggest that they are less likely to be screened for breast cancer. This study examines physician characteristics associated with mammography referral and perceived barriers to mammography among family physicians serving the Caribbean community of Toronto.

Methods: The study consisted of a mail-back family physician survey.

The social determinants of health: a contribution to the analysis of gender differences in health and illness.

While it is established that socioeconomic status and social integration influence the distribution of health and illness among men and women, little attention has been paid to the different ways in which women and men experience socioeconomic opportunities and social attachments to others. Drawing on evidence from the literature, the position developed in this article is that gender mediates the influence of both socioeconomic status and social integration on health, and for women, these are intricately linked. Women's relationship to the labour market establishes and perpetuates their socioeconomic inequality relative to men, and may produce contradictory influences on women's health.

The significance of identity in the adjustment to diabetes among insulin users.

In this study, the social theory of identity was used to gain a better understanding of the complex process of how individuals adjust to having insulin-requiring diabetes. Semistructured interviews were conducted with 30 individuals to explore issues related to their personal experience with diabetes. Narrative methods were used to analyze the data.

Colon and rectal anastomoses do not require routine drainage: a systematic review and meta-analysis.

Objective: Many surgeons continue to place a prophylactic drain in the pelvis after completion of a colorectal anastomosis, despite considerable evidence that this practice may not be useful. The authors conducted a systematic review and meta-analysis of randomized controlled trials to determine if placement of a drain after a colonic or rectal anastomosis can reduce the rate of complications.

Methods: A search of the Medline database of English-language articles published from 1987 to 1997 was conducted using the terms "colon," "rectum," "postoperative complications," "surgical anastomosis," and "drainage.

Genetic implications of double primary cancers of the colorectum and endometrium.

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant condition predisposing to cancers of the colorectum and endometrium. Endometrial cancer is the most commonly occurring extracolonic cancer in HNPCC. Estimates of the cumulative incidence of endometrial cancer in women with mutations in the HNPCC genes range from 22-43%.

A family with three germline mutations in BRCA1 and BRCA2.

Several cancer genetics centres offer testing for specific BRCA1 and BRCA2 mutations to Ashkenazi Jewish individuals with a family history of breast and ovarian cancers. Testing involves screening for three common mutations found in this population, namely BRCA1 185delAG, 5382insC and BRCA2 6174delT (Struewing et al., Nat Genet 1995: 11: 198-200; Roa et al.