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1.
Ann Oncol ; 18 Suppl 6: vi77-80, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17591839

ABSTRACT

BACKGROUND: The study of the relationship of emotional status and tumor etiology has been investigated in order to elaborate a multifactorial model able to provide an answer integrating the different disciplines on cancer. The aim of this work is to investigate the knowledge on the alexithymia construct, exploring the presence of such trait in women affected by mammary carcinoma and analyzing the used coping strategies. The study has also examined personal thoughts related to event control (locus of control). METHOD: The Toronto Alexithymia Scale, Coping Orientation to Problems Experienced, and Locus of Control questionnaires were administered to a group of 86 women aged 31-55 years (mean = 43.7; SD 6.57)-experimental group (N = 44): women with breast cancer diagnosed in the last 6 months; control group (N = 42): women without oncologic pathology, referred at the aforementioned institutions to undergo a breast check-up. RESULTS: According to our hypothesis and literature data, a significant presence of alexithymic subjects (36.4% versus 2.4%; chi2 = 20.9; P < 0.0001) and a tendency to adopt coping strategies not focused on the problem were reported among women with mammary carcinoma. This causes incapability to act in order to actively contrast pathology-linked stress or to lower the effects. CONCLUSION: Our results indicate that the tendency to repress one's emotions is associated to some general schemes of reaction to stress which, when used in a dysfunctional manner (such as the attempt to ignore how threatening an event is), are maladaptive in the end.


Subject(s)
Adaptation, Psychological , Breast Neoplasms/etiology , Breast Neoplasms/psychology , Expressed Emotion , Adaptation, Psychological/physiology , Adult , Affective Symptoms/diagnosis , Affective Symptoms/psychology , Breast Neoplasms/diagnosis , Expressed Emotion/physiology , Female , Humans , Middle Aged
2.
Ann Oncol ; 18 Suppl 6: vi99-102, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17591844

ABSTRACT

BACKGROUND: The frequency and the type of BRCA1 mutations vary widely and might have different geographic and ethnic distribution. Most of these alterations are generally found in isolated populations as a consequence of the founder effect. The object of this study was to determine whether 4843delC, a deleterious mutation of the BRCA1 gene, might be due to a founder effect originating in the Sicilian region of Italy. This mutation was described by us for the first time and identified in two unrelated Sicilian families with hereditary breast/ovarian cancer. The two families were from the same geographical area (south-western area of Palermo, Sicily). The homogeneity of the ethnic group of the two families and the Single Nucleotide Polymorphism (SNPs) analysis of probands led us to perform a study of the allelotype of the various members. PATIENTS AND METHODS: The analysis of the haplotype of the probands and of several family members was conducted by means of a study of the highly polymorphic microsatellites within or flanking the BRCA1 gene. RESULTS: This analysis revealed the presence of a common allele associated with the mutation. CONCLUSIONS: We therefore conclude that 4843delC of the BRCA1 gene is a possible founder mutation in the Sicilian population.


Subject(s)
DNA Mutational Analysis , Founder Effect , Gene Deletion , Genes, BRCA1 , Breast Neoplasms/genetics , Female , Haplotypes , Humans , Male , Microsatellite Repeats , Ovarian Neoplasms/genetics , Pedigree , Sicily
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