Search results for "Genetic counselling"

RISK PERCEPTION AND PSYCHOLOGICAL DISTRESS IN THE GENETIC COUNSELLING FOR HEREDITARY BREAST AND/OR OVARIAN CANCER

Background: Cancer genetic counselling allows the identification of a genetic component that increases the risk of developing a tumor. The psychological reactions are influenced by both the content of the information received, from both the subjetive perception of their own risk of becoming ill or being pruner of genetic mutation. Materials and Methods: This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between the Cancer Risk Perception and the Genetic Risk during genetic counselling before testing, considering the influence of psychological variables, in particular distress, anxiety and …

The impact of information given to patients' families: breast cancer risk notification

2012

ABSTRACT: A family history of breast cancer is a clear risk for developing the disease. Therefore, when a woman is diagnosed with breast cancer all her female first degree relatives become population at risk. This involve a number of important aspects to be taken into account by psychooncology professionals. (a) First, in addition to the stress associated with the diagnosis and treatment of breast cancer in a close relative, first degree relatives of breast cancer patients have the added stress of learning that they are at risk of this disease. (b) Second, these women become the main target of secondary breast cancer prevention strategies. However, various reports show that a considerable p…

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine

2019

Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic the…

WHO HAS TO UNDERGO CANCER GENETIC TESTING? A PERSPECTIVE.

2017

Genetic testing is a medical tool employed to screen changes in genes linked to cancer and other genetic diseases. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers and they represent the main tool for early identification of the “risk” subjects. The choice to undergo genetic testing by a healthy or affected cancer patient with family history of the cancer has to be the fruit of a careful and prudent assessment of the advantages and disadvantages discussed during oncogenetic counselling. The latter, in turn, in the case of a patient's positive and informed choice, must constantly affiliate the genetic testing, in order to preserve the prediction and inf…

Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

2017

International audience; Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular…

THE ROLE OF PSYCHOLOGICAL ASPECTS IN ONCOGENETIC COUNSELLING

2010

Background: As result of the recent developments in DNA testing and the knowledge that cancer can be hereditary, it is now possible to offer genetic counselling to people within identified “cancer families”, and to inform them about their assumed increased risk for developing cancer. The aim of this study was to test the role of psychological aspect in oncogenetic counselling. The primary purpose of the research was to evaluate the difference between Anxiety Trait and Anxiety State in subjects going to oncogenetic counselling. The secondary aim was to explore the relationships between alexithymia, personality trait, coping style, psychological distress, in subjects attending genetic counsel…

Who has to undergo cancer genetic testing? A perspective

2017

Genetic testing is a medical tool employed to screen changes in genes linked to cancer and other genetic diseases. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers and they represent the main tool for early identification of the “risk” subjects. The choice to undergo genetic testing by a healthy or affected cancer patient with family history of the cancer has to be the fruit of a careful and prudent assessment of the advantages and disadvantages discussed during oncogenetic counselling. The latter, in turn, in the case of a patient’s positive and informed choice, must constantly affiliate the genetic testing, in order to preserve the prediction and inf…

Quando l’amnios si rompe troppo presto e… da solo

2022

Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as early amnion rupture sequence or ADAM (Amniotic Deformity, Adhesions, Mutilations) complex, characterized by asymmetrical congenital anomalies, including limb reduction and craniofacial defects, usually arising during the 2nd or 3rd trimester of gestation. The paper reports the case of a 4-month-old infant who was referred for genetic counselling in the suspicion of malformation syndrome with asymmetrical limb reduction defects. The present case un…