FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. METHODS: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. RESULTS: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval=1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. CONCLUSION: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.

The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report.

Fallopian tube carcinoma is a very rare tumor, comprising less than 1% of all gynecologic cancers and found primarily in postmenopausal women. With the disease being so uncommon, little is known about its causes and/or risk factors, and treatment approaches have been taken from experiences with ovarian cancer. We describe a case of a 42-year-old woman with fallopian tube cancer in which the founder mutation BRCA1c.2845insA was detected by mutational analysis. This same mutation was subsequently detected in four unaffected members of her family following genetic counseling. We report an association between this founder mutation and fallopian tube cancer as part of the hereditary breast cancer syndrome in an Asian population. A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed.

Changes in the local morphology of the rectus abdominis muscle following the DIEP flap: an ultrasonographic study.

This study was undertaken to assess the changes in the local morphology of the rectus abdominis muscle following intramuscular dissection of the deep inferior epigastric artery perforators after harvesting of the deep inferior epigastric perforator (DIEP) flap. While the DIEP provides the well-known advantage of use of the lower abdominal tissue with preservation of the integrity of the abdominal wall musculature, postoperative problems such as abdominal asymmetry, bulges and reduced flexion capacity have been found. These changes may be due to rectus abdominis muscle damage from ischemia or denervation. We used ultrasonography to assess the changes in rectus abdominis muscle thickness and contractility, preoperatively, 1-month and 1-year postoperatively. The study group consisted of 17 rectus abdominis muscles in 14 patients subjected to intramuscular dissection of perforators. The control group consisted of 11 intact rectus abdominis muscles in 11 patients who had undergone unilateral DIEP flap elevation, the dissected muscles being part of the study group. We found that the resting muscle thickness in the study group was, significantly increased at 1-month postoperatively, resolving by 1-year follow-up. As these changes were not seen in the control group, the increased muscle thickness is attributed to postoperative oedema that resolves with time. All muscles in the study and control groups retained contractility showing no evidence of muscle denervation. Our date demonstrates that intramuscular dissection of perforator vessels in the DIEP flap leads to minimal changes in the local morphology and contractility of the rectus abdominis muscle.

Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer.

Recommended guidelines have limited breast cancer gene ( BRCA1 ) mutation testing to individuals with a personal or family history of early onset breast and/or ovarian cancer, and those with multiple affected close relatives. Such large breast cancer families are rare in the general population, limiting the clinical application of the BRCA1 discovery. Previous reports have suggested an association between medullary breast cancer and BRCA1 mutation carriers. To test the feasibility of using these rare histological subtypes as an alternative to epidemiological factors, 42 cases of medullary cancer unselected for family history were screened for BRCA1 point mutations and large exon rearrangements. The large majority (83%) of these patients did not have significant family of breast or ovarian cancer. Two deleterious mutations resulting in a premature stop codon, and one exon 13 duplication were found. All mutations were detected in patients with typical medullary cancer, who had family history of multiple breast and ovarian cancers. Our findings suggest that medullary breast cancers are not an indication for BRCA1 mutation screening in the absence of significant family risk factors.

The mastectomy clinical pathway: what has it achieved?

INTRODUCTION: The mastectomy clinical pathway was developed to optimise the clinical care and cost management of breast cancer patients. The aim of this study was to prospectively assess the effect of the mastectomy pathway at the National University Hospital, Singapore over a 7-month period. MATERIALS AND METHODS: A prospective study was carried out on all breast cancer patients admitted for elective mastectomy between March and October 2001. As surrogates of optimised cost and care management, the length of stay and hospital costs, as well as the incidence of complications and unscheduled readmissions, were analysed. Non-pathway mastectomy patients treated from March to October 2000 were used as controls. A total of 83 patients who underwent mastectomy formed the pathway group, while 69 non-pathway patients acted as controls. RESULTS: Compared to controls, the mean length of hospital stay decreased significantly from 4.91 days to 4.10 days (P = 0.018) and the mean cost per case decreased significantly from $5,050 to $4,406 (P = 0.014) for those in the pathway group. There were no significant differences in the complications and unscheduled hospital readmission rates between the two groups (P > 0.05). CONCLUSION: The implementation of mastectomy clinical pathway has improved consistency in patient's treatment, the quality of patient outcome, and has reduced the costs of care and length of hospital stay. In addition, variance analysis of the mastectomy pathway has shown to be valuable for problem identification to improve patient care.

Double omental hernia--case report on a very rare cause of intestinal obstruction.

INTRODUCTION: We report a case of transomental herniation of the ileum through a defect in the gastrocolic ligament with re-emergence through a defect in the gastrohepatic ligament. This type of herniation is extremely rare and a review of the literature is presented. CLINICAL PRESENTATION: A 41-year-old Chinese male presented with signs and symptoms of intestinal obstruction. TREATMENT: An urgent laparotomy was undertaken and he was found to have a rare form of intra-abdominal hernia. The hernia was reduced and the defects were closed. OUTCOME: Postoperative recovery was unremarkable. CONCLUSION: Urgent operation should not be delayed because of the high mortality associated with strangulation.