In order to clarify the factors that mainly influence arm morbidity following treatment of breast cancer with the full axillary dissection protocol, we evaluated, in a model of multiple regression analysis, parameters such as the type of breast surgery, adjuvant radiotherapy, time of irradiation, age, number of dissected nodes and axillary nodal status. A total of 104 women were studied. Late arm edema was observed in 17% of the patients and was more frequent when (1) irradiation was given immediately after the operation than if it was given 6 months later (p = 0.009) and (2) the number of removed nodes exceeded 40 (p = 0.037). Upper limb pain was reported by 16% of the patients and was reported more frequently from patients over 60 years of age (p = 0.036), as well as from patients who underwent modified radical mastectomy (p = 0.044) and those in whom 30–40 nodes were dissected (p = 0.025). Shoulder joint mobility was impaired in 17% of the patients, and it was not affected by any of the examined factors. It seems that conservative breast surgery or adjuvant breast radiotherapy 6 months after the operation might reduce independently the likelihood of arm morbidity by 25%.

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Germline mutations in BRCA1 gene account for varying proportions of breast/ovarian cancer families, and demonstrate considerable variation in mutational spectra coincident with ethnic and geographical diversity. We have screened for mutations the entire coding sequence of BRCA1 in 30 breast/ovarian cancer women with family history of two or more cases of breast cancer under age 50 and/or ovarian cancer at any age. Genomic DNA from patient was initially analyzed for truncating mutations in exon 11 with PTT followed by DNA sequencing. In the cases where no frameshift mutation was observed in exon 11, all other exons were screened with direct sequencing. Two novel (3099delT, 3277insG) and three already described (3741insA, 1623del5‐TTAAA, 5382insC‐twice) truncating mutations were identified. In addition, 6 point mutations (L771L, P871L, E1038G, K1183R, S1436S, S1613G) which are already classified as polymorphisms were identified. Three unclassified intronic variants (IVS16‐68 G>A, IVS16‐92 G>A, IVS18+65G>A) were also detected. These results show that BRCA1 deleterious mutations are present in a fraction (20%) of Greek breast/ovarian cancer families similar to other European countries. Mutations were detected in high‐ (≥3 members) as well as in moderate‐risk (2 members) families. This is the first report of BRCA1 mutation analysis in Greece. Hum Mutat 16:272–273, 2000. © 2000 Wiley‐Liss, Inc.

We have screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the Greek population. An overall mutation prevalence of 32% was observed. Six BRCA1 recurrent/founder mutations dominate the observed spectrum (58.5% of all mutations found). These include three mutations in exon 20 and three large genomic deletions. Of the 44 different deleterious mutations found in both genes, 16 are novel and reported here for the first time. Correlation with available histopathology data showed that 80% of BRCA1 carriers presented a triple-negative breast cancer phenotype while 82% of BRCA2 carriers had oestrogen receptor positive tumours. This study provides a comprehensive view of the frequency, type and distribution of BRCA1/2 mutations in the Greek population as well as an insight of the screening strategy of choice for patients of Greek origin. We conclude that the Greek population has a diverse mutation spectrum influenced by strong founder effects.

A case controlled study among 361 women with surgically treated ectopic pregnancy and 420 women delivered at term was designed, aiming at characterization of the association among previous pelvic operations, selected reproductive factors and ectopic pregnancy. All types of previous pelvic operations increase the risk of ectopic pregnancy from a 2-fold increase for appendectomy to a 9-fold increase for ectopic pregnancy, if maternal age, parity, history of spontaneous and induced abortions and history of infertility is controlled. This study suggests that a previous pelvic operation may increase the risk of ectopic pregnancy.