ABSTRACT
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.
Subject(s)
Breast Neoplasms/genetics , Genes, BRCA1 , Genes, BRCA2 , Genetic Counseling/methods , Genetic Testing/methods , Hereditary Breast and Ovarian Cancer Syndrome/genetics , AMP-Activated Protein Kinase Kinases , Antigens, CD , Breast Neoplasms/prevention & control , Breast Neoplasms/psychology , Breast Neoplasms, Male/genetics , Breast Neoplasms, Male/prevention & control , Breast Neoplasms, Male/psychology , Cadherins/genetics , Female , Genes, p53 , Genetic Predisposition to Disease/psychology , Hamartoma Syndrome, Multiple/genetics , Hamartoma Syndrome, Multiple/psychology , Hereditary Breast and Ovarian Cancer Syndrome/psychology , Humans , Li-Fraumeni Syndrome/genetics , Li-Fraumeni Syndrome/psychology , Male , Mastectomy , Mutation , Neoplastic Syndromes, Hereditary/genetics , Neoplastic Syndromes, Hereditary/psychology , PTEN Phosphohydrolase/genetics , Peutz-Jeghers Syndrome/genetics , Peutz-Jeghers Syndrome/psychology , Protein Serine-Threonine Kinases/geneticsABSTRACT
Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination, and pre-implantation genetic diagnosis (PGD). In a cross-sectional study, 61 adult PJS patients were asked to complete a questionnaire concerning genetic testing, family planning, PND and PGD. The questionnaire was completed by 52 patients (85% response rate, 44% males) with a median age of 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (29%) respondents reported that their diagnosis of PJS had influenced their decisions regarding family planning, including 10 patients (19%, 9/10 females) who did not want to have children because of their disease. Termination of pregnancy after PND in case of a foetus with PJS was considered 'acceptable' for 15% of the respondents, whereas 52% considered PGD acceptable. In conclusion, the diagnosis of PJS influences the decisions regarding family planning in one third of PJS patients, especially in women. Most patients have a negative attitude towards pregnancy termination after PND, while PGD in case of PJS is judged more acceptable. These results emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.
Subject(s)
Family Planning Services , Genetic Testing , Peutz-Jeghers Syndrome/genetics , Peutz-Jeghers Syndrome/psychology , Prenatal Diagnosis/psychology , Adolescent , Adult , Aged , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Middle Aged , Surveys and Questionnaires , Young AdultABSTRACT
Life with Peutz-Jeghers syndrome (PJS) is complex and demanding, affecting not only the patients, but also their family members, loved ones, and clinicians. In general, clinicians and researchers have defined the syndrome. Now, in addition, people with PJS and their caregivers use the Internet for medical research and to find others with whom to share information and support. An online support group for people interested in PJS has been an important resource since 2000. This article is meant to complement the medical literature and clinician practice by sharing knowledge gained from this group and through the author's personal experience as a PJS patient. Clinicians and researchers may benefit from a better-rounded view of the syndrome, a long list of questions and issues, and tips for future research and clinical practice. This is offered with the intent to ease suffering and improve future patient care.
Subject(s)
Attitude to Health , Patients/psychology , Peutz-Jeghers Syndrome/psychology , Quality of Life/psychology , Humans , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/therapy , Self-Help GroupsABSTRACT
Little is known about psychological distress and quality of life (QoL) in patients with Peutz-Jeghers syndrome (PJS), a rare hereditary disorder. We aimed to assess QoL and psychological distress in PJS patients compared to the general population, and to evaluate determinants of QoL and psychological distress in a cross-sectional study. PJS patients completed a questionnaire on QoL, psychological distress, and illness perceptions. The questionnaire was returned by 52 patients (85% response rate, 56% females, median age 44.5 years). PJS patients reported similar anxiety (p = 0.57) and depression (p = 0.61) scores as the general population. They reported a lower general health perception (p = 0.003), more limitations due to emotional problems (p = 0.045) and a lower mental well-being (p = 0.036). Strong beliefs in negative consequences of PJS on daily life, a relapsing course of the disease, strong emotional reactions to PJS, and female gender were major determinants for a lower QoL. PJS patients experience a similar level of psychological distress as the general population, but a poorer general health perception, more limitations due to emotional problems, and a poorer mental QoL. Illness perceptions and female gender were major predictors for this lower QoL. These results may help to recognize PJS patients who might benefit from psychological support.
Subject(s)
Adaptation, Psychological , Peutz-Jeghers Syndrome/psychology , Quality of Life/psychology , Stress, Psychological/psychology , AMP-Activated Protein Kinase Kinases , Adolescent , Adult , Aged , Analysis of Variance , Cross-Sectional Studies , Female , Humans , Linear Models , Male , Middle Aged , Mutation , Protein Serine-Threonine Kinases/genetics , Surveys and Questionnaires , Young AdultABSTRACT
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant inherited cancer predisposition syndrome and gastrointestinal hamartomatous polyposis syndrome characterized by the presence of distinct perioral freckling. To date, we have not found any tool that specifically assesses the psychosocial impact of PJS on patients. We developed a PJS quality of life questionnaire using expert opinions of 3 cancer genetic counselors and a survey of patients with PJS through recruitment of participants involved in a support group over the internet. We measured and compared our questionnaire results to the widely used Center for Epidemiologic Studies and Depression Scale (CES-D) and the Short Form 36 (SF-36). We recruited 38 patients for our study. Volunteers were mailed a consent form, the self-administered CES-D, SF-36 and our developed PJS questionnaire and were instructed to return the completed questionnaires by mail. Results showed that PJS patients suffer from mild depression even though physically they did not feel impacted by their condition compared to the general population. However, having PJS caused them to alter many important life decisions. The PJS Questionnaire correlated with data obtained from analysis of CES-D, as well as the SF-36. More uniquely, it provided specific information regarding the burden of disease and quality of life in patients affected with Peutz-Jeghers syndrome. Its ability to do so for other polyposis syndrome populations remains to be studied. These results are important in developing plan of care for these patients regarding genetic counseling and surveillance strategies for PJS patients.
