BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

INTRODUCTION: A small fraction of breast cancer is the result of germline mutations in the BRCA1 and BRCA2 cancer susceptibility genes. Mutation carriers frequently have a positive family history of breast and ovarian cancer, are often diagnosed at a young age, and may have a higher incidence of double or multiple primary breast tumours than breast cancer patients in general. OBJECTIVES: To estimate the prevalence and spectrum of BRCA1 and BRCA2 mutations in young Danish patients affected with bilateral or multifocal breast cancer and to determine the relationship of mutation status to family history of cancer. SUBJECTS: From the files of the Danish Breast Cancer Cooperative Group (DBCG), we selected 119 breast cancer patients diagnosed before the age of 46 years with either bilateral (n=59) or multifocal (n=61) disease. METHODS: DNA from the subjects was screened for BRCA1 and BRCA2 mutations using single strand conformation analysis (SSCA) and the protein truncation test (PTT). Observed and expected cancer incidence in first degree relatives of the patients was estimated using data from the Danish Cancer Registry. RESULTS: Twenty four mutation carriers were identified (20%), of whom 13 had a BRCA1 mutation and 11 carried a BRCA2 mutation. Two mutations in BRCA1 were found repeatedly in the material and accounted for seven of the 24 (29%) mutation carriers. The mutation frequency was about equal in patients with bilateral (22%) and multifocal breast cancer (18%). The incidence of breast and ovarian cancer was greatly increased in first degree relatives of BRCA1 and BRCA2 mutation carriers, but to a much lesser degree in relatives of non-carriers. An increased risk of cancer was also noted in brothers of non-carriers. CONCLUSIONS: A relatively broad spectrum of germline mutations was observed in BRCA1 and BRCA2 and most of the mutations are present in other populations. Our results indicate that a diagnosis of bilateral and multifocal breast cancer is predictive of BRCA1 and BRCA2 mutation status, particularly when combined with information on the patients' age at diagnosis and family history of breast/ovarian cancer.

Doctors and dying declarations: the role of the state in abortion regulation in British Columbia, 1917-37.

In Canada, the history of state regulation of abortion is underexamined, leaving the general impression that the state played a secondary role to that of the medical profession in attempting to enforce the federal anti-abortion law. Studies have focused on "regular" physicians as a regulator of abortion to such an extent that the state's involvement in this process has been largely neglected or obscured. In contrast, this study highlights the actions taken by lower-level state agencies, namely, the Coroner's Inquisition and municipal and provincial police, to enforce the federal abortion law in British Columbia. The study examines the records of the inquests held into the deaths of 34 women from illegal abortion and offers three main observations. First, state agencies consistently sought information about abortionists and the circumstances surrounding the abortions from the women in hospital, their families, lovers, and doctors. Especially important is how authorities routinely attempted to extract dying declarations from the ill women. Second, while it is clear doctors participated in the investigative process, the records suggest they were often ambivalent or reluctant to do so. Finally, this study concludes that many of the actors involved in these events resisted the authorities' attempts to enforce the law, some successfully, thereby effectively undermining state regulatory practices as a result.

Partial moles with maze-like vascular anomaly.

Two cases of combined maze-like vascular anomaly and partial mole are described. Immunohistochemical staining showed the abnormal vessels to be of endothelial origin. The vessels had been a functioning part of the fetal circulation. Both partial moles were triploid, and both were evacuated in the second trimester.