567 research outputs found
Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy
No full textAs the impact of breast cancer (BC) risk assessment in asymptomatic women with a family history of BC had never been explored in Italy, we performed a study on a retrospective series of women who had undergone BC risk assessment. To this aim, a semi-structured telephone interview was administered to 82 women. Most participants considered the information received as clear (96.2 %) and helpful (76.8 %). Thirty-eight (46.3 %) stated that their perceived risk of BC had changed after the counseling: for 40.2 % it had decreased, for 6.1 % increased; however, women highly overestimating their risk at the baseline (≥4-fold) failed to show improvements in risk perception accuracy. Sixty-six women (80.5 %) stated they had followed the recommended surveillance, while 19.5 % had not, mainly due to difficulties in arranging examinations. Most women (89.0 %) had shared the information with their relatives, with 57.3 % reporting other family members had undertaken the recommended surveillance. BC risk assessment was associated with high rates of satisfaction and had a favorable impact on risk perception in a subgroup of women. The impact on surveillance adhesion extended to relatives. Organized programs for identification and surveillance may help identify a larger fraction of at-risk women and overcome the reported difficulties in arranging surveillance
Acceptability and adherence in a chemoprevention trial among women at increased risk for breast cancer attending the modena familial breast and ovarian cancer center (Italy)
No full textChemoprevention for women at risk for breast cancer has been shown to be effective, but in actual practice, women's uptake of chemoprevention has been poor. We explored factors that influence acceptability, adherence, and dropout in the International Breast (Prevention) Intervention Study during our first 3 years of activity at the Modena Familial Breast and Ovarian Cancer Center. We evaluated socio-demographic characteristics, health status, adherence, and side effect intensity. Semi-structured interviews analyzed reasons for accepting/refusing/stopping the trial. A total of 471 postmenopausal women were invited to participate, of which 319 declined to participate (68%), 137 accepted to participate (29%), and 15 participants did not make a final decision (3%). Breast cancer-related worries and trust in our preventive and surveillance programs were the most frequent reasons for accepting. Side effect-related worry was the most frequent reason for refusing. General practitioners' and family members' opinions played an important role in the decision-making process. Adherence significantly decreased after a 12-month follow-up, but it remained unchanged after 24- and 36-month follow-ups. Mild/moderate side effects reported by women did not change after 12 months of treatment. Forty percent of women withdrew from the study due to complaints of side effects. We concluded that chemoprevention trials are difficult medical experiments and that the process of deciding about whether or not to participate is based mainly on beliefs and values. This study has important clinical implications. During counselling with prospective participants, it is important to emphasize the potential benefits and to promote an informed choice. How participants make decisions, their belief systems, and their perception of risk are all factors that should be investigated in future research
Prophylactic Surgery to Reduce the Risk of Developing Breast Cancer: Issues and Clinical Implications
No full textWomen with BRCA1 or BRCA2 mutations are at increased risk of developing breast and ovarian cancer. Options to manage this risk are regular surveillance, chemoprevention, and risk reduction surgery which includes, risk reduction mastectomy (bilateral or contralateral) and risk reduction salpingo-oophorectomy. Risk-reduction surgery (RRS) has been proven to be efficacy in the reduction of breast and ovarian cancer up to 90% but are irreversible procedure and psychological and physical implication could be challenging for women. Authors provide an overview of the current literature regarding efficacy of RRS, acceptability and psychological implication. Decisions about RRS are complex owing to the multiple associated risks and benefits. Specific and multidisciplinary approach is needed. Many factors, mostly psychological, influenced the decision. Research on psychological impact of these procedure are controversial. The majority of these studies reported that women who choose surgery have diminished anxiety about cancer risk, and experience few psychological difficulties, but physical complication and change in body image, sexual life are often reported. In conclusion, women need to be counselled about the decision to undergo RRS Potential negative effects of should be discussed thoroughly with each woman considering this procedure. Careful psychological follow up after the surgery should be scheduled
Male Bilateral Risk-Reducing Mastectomy: Report of a Case
No full textMale prophylactic mastectomy is described only in sporadic cases and always performed in men with BRCA mutation with a contralateral breast cancer diagnosis. This case may suggest that we need to tailor counseling and decision‐making process for males carrying BRCA mutation and take into consideration risk‐reduction surgery when wished and strongly motivated by the consultant or in the presence of multiple risk factors in addition to gene mutation
Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire
No full textIndividuals that attend cancer genetic counseling may experience test-related psychosocial problems that deserve clinical attention. In order to provide a reliable and valid first-line screening tool for these issues, Eijzenga and coworkers developed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire. The aim of this work was to develop an Italian adaptation of the PAHC (I-PACH). This prospective multicenter observational study included three stages: (1) development of a provisional version of the I-PAHC; (2) pilot studies aimed at testing item readability and revising the questionnaire; and (3) a main study aimed at testing the reliability and validity of the final version of the I-PAHC with the administration of a battery comprising measures of depression, anxiety, worry, stress, and life problems to 271 counselees from four cancer genetic clinics. Adapting the original PAHC to the Italian context involved adding two further domains and expanding the emotions domain to include positive emotions. While most of the items were found to be easy to understand and score, some required revision to improve comprehensibility; others were considered irrelevant or redundant and therefore deleted. The final version showed adequate reliability and validity. The I-PAHC provides comprehensive content coverage of cancer genetic-specific psychosocial problems, is well accepted by counselees, and can be considered a sound assessment tool for psychosocial issues related to cancer genetic counseling and risk assessment in Italy
CHIRURGIA PROFILATTICA DELLA MAMMELLA NELLE PAZIENTI PORTATRICI DI MUTAZIONE DEL GENE BRCA 1/2. PERCORSO DIAGNOSTICO-TERAPEUTICO.
No full textLe donne portatrici di una mutazione del gene BRCA1 o BRCA2 presentano un alto rischio di sviluppare un carcinoma mammario ed ovarico nel corso della vita. Le opzioni per controllare o ridurre questo rischio sono una sorveglianza clinico-strumentale regolare, la chemioprevenzione, la chirurgia “risk reducing” (mastectomia bilaterale o controlaterale) e la salpingo-ooforectomia. La Chirurgia presenta una riduzione del rischio di insorgenza del carcinoma mammario ed ovarico fino al 90-95%, ma è una procedura irreversibile con implicazioni fisiche e psicologiche importanti per le donne interessate. Gli Autori riportano l’esperienza in tema di tumori ereditari della mammella sottolineando l’importanza di allestire un team multidisciplinare dedicato nel cui ambito sia disponibile un “counseling onco-genetico”
specifico e la necessità di allestire un consenso informato adeguato a questa problematica
Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes
No full textMore than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality
is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with
hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome, the tumor suppressor gene, TP53, in
the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51,
BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is
relevant for the future development ofmolecular diagnostic strategies and targeted therapeutic approaches.The recent development
and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyzemultiple
cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the
identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk
management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On
the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and
guide treatment decision-making
Reproductive risk factors in women with family history of breast cancer attending an Italian Family Cancer Clinic
No full textThe investigation performed in women at a 3 times higher risk of breast cancer (RER3) shows that use of oral contraceptives was not associated with an increased risk of developing breast cancer
Correction to: Size‐Dependent Enforcement, Tax Evasion and Dimensional Trap
No full textThe article “Size‐Dependent Enforcement, Tax Evasion and Dimensional Trap”, written by Raffaella Coppier, Elisabetta Michetti and Luisa Scaccia, was originally published electronically on the publisher’s internet portal on 05 July 2023 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on 24 February 2024 to © The Author(s) 2024 and the article is forthwith distributed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made
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