Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer

How long counselees retain the information given during their genetic consultation is of major importance. To address this issue, we conducted a survey among the 3500 families that have been offered genetic counseling at our Center since 1988. In August 2007, we mailed a questionnaire to a representative subset of 579 persons belonging to breast/ovarian or colon cancer families seen in the last 10 years, either carrying an identified mutation or not. Targeted topics included the meaning of hereditary predisposition, the medical prevention related to the familial risk, the steps to undertake for a new family member to enter the genetic testing program and general knowledge of hereditary predisposition to cancer. A total of 91 randomized non-respondents were sent a second, more inciting letter, in order to assess any non-response bias. Overall, 337 questionnaires were collected: response rate was 58%. Standardized average knowledge was 7.28±1.52 of 10. Scores were lowest concerning medical prevention. The level of knowledge decreased with age (P<10−6), but increased with educational level (P<10−5) and mutation status (P=0.01). Surprisingly, no erosion of patients' knowledge over the time was observed (P=0.41). Among persons at hereditary risk of colon cancer, the level of knowledge tended to improve with time, in contrast to the breast/ovarian group (P=0.017). Among persons with a familial risk of breast/ovarian or colon cancer, a renewal of oncogenetic counseling does not seem necessary to maintain the level of specific knowledge. Measures to help patients follow their medical prevention, as organizing or checking their medical examinations, seem indicated

Informer la famille : émotions et attitudes du consultant en oncogénétique pour risque familial de cancer sein/ovaire ou côlon

International audienceBackground > Transmission of oncogenetic information (TOI) by probands to their families is of major importance to organize medical prevention in his family. Little is known about the difficulties that the proband faces when he tries to endorse his "duty to warn''. Methods > To characterize the barriers to TOI, a survey was performed, previously to the bioethic law of 2011, on a representative sample of 337 counselees seen in the last 10 years at the Centre Jean-Perrin Oncogenetics Department. A questionnaire comprising 97 items was prepared by experts and validated by a group of patients and health professionals. Nineteen Lickert-scale questions specially concerned TOI.Results > Analysis found two dimensions, one of emotions and one concerning communication attitudes. Both dimensions were negatively correlated (r = –0.34, P Cancer and its treatments seem to deeply affect patient's relatives and limit his capacity to involve his family into the oncogenetic inquiry. Measures are suggested to help ex-patients improve TOI

BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk

<div><p>Background</p><p>Deleterious mutations in the BRCA genes are responsible for a small, but significant, proportion of breast and ovarian cancers (5 - 10 %). Proof of <i>de novo</i> mutations in hereditary breast/ovarian cancer (HBOC) families is rare, in contrast to founder mutations, thousands of years old, that may be carried by as much as 1 % of a population. Thus, if mutations favoring cancer survive selection pressure through time, they must provide advantages that compensate for the loss of life expectancy.</p><p>Method</p><p>This hypothesis was tested within 2,150 HBOC families encompassing 96,325 individuals. Parameters included counts of breast/ovarian cancer, age at diagnosis, male breast cancer and other cancer locations. As expected, well-known clinical parameters discriminated between BRCA-mutated families and others: young age at breast cancer, ovarian cancer, pancreatic cancer and male breast cancer. The major fertility differences concerned men in BRCA-mutated families: they had lower first and mean age at paternity, and fewer remained childless. For women in BRCA families, the miscarriage rate was lower. In a logistic regression including clinical factors, the different miscarriage rate and men's mean age at paternity remained significant.</p><p>Results</p><p>Fertility advantages were confirmed in a subgroup of 746 BRCA mutation carriers and 483 non-carriers from BRCA mutated families. In particular, female carriers were less often nulliparous (9.1 % of carriers versus 16.0 %, p = 0.003) and had more children (1.8 ± 1.4 SD versus 1.5 ± 1.3, p = 0.002) as well as male carriers (1.7 ± 1.3 versus 1.4 ± 1.3, p = 0.024).</p><p>Conclusion</p><p>Although BRCA mutations shorten the reproductive period due to cancer mortality, they compensate by improving fertility both in male and female carriers.</p></div

Accrual flowchart of the families and the individuals selected from the Database.

<p>Accrual flowchart of the families and the individuals selected from the Database.</p

Cancer locations predicting the BRCA mutational risk.

<p>(logistic regression: p-values complete the information given by each Odds-Ratio; error bars represent 95%-CI of Odds-Ratios; covariates are cancer locations and "Breast < 30" means female breast cancers occurring before 30 years…).</p

Additional file 1: of BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18–30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial

Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) 2013 checklist. (DOC 120 kb

BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer

Abstract Background In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They may be presented with surgical prevention options at a key moment of their identity construction, the start of a marital relationship and/or at the onset of procreation projects. We tested an original psychoeducational intervention to help these women better cope with these difficult issues. Methods Seven young female counselees (26.4 ± 2.9 years [23–30]) from the Oncogenetics Department at Jean Perrin Comprehensive Cancer Center were enrolled. A weekend group workshop composed of short conferences, group sharing and role playing activities was supervised by a psychotherapist. A longitudinal analysis of questionnaires over one year of follow-up was performed. The Herth Hope Inventory was evaluated, as well as self-esteem, anxiety, perceived control, coping, and quality of life. Participants’ comments were collected by a genetic counselor throughout the workshop. Results All participants were BRCA mutation carriers and six had lived with a close relative affected by breast/ovarian cancer. Hope, self-esteem and quality of life increased during the year after the workshop (p = 0.0003). Coping by focus on the problem increased in the first 6 months (p = 0.011) and returned to baseline values at one year, while coping by focus on emotions decreased steadily (p = 0.021). Debriefing from the workshop highlighted the new medical opportunities proposed and the challenges these young women face, such as whether to have prophylactic surgery, and if so before or after having children, and how surgery might affect their relationship with their partner. Conclusion A tailored two-day psychoeducational workshop may be sufficient to improve the way young women with BRCA mutations deal with the implications of HBOC risk. Trial registration BRACAVENIR was registered in ClinicalTrials.gov with no NCT02705924

Stimulated thyroglobulin and Thyroglobulin Reduction Index Predict Excellent Response in Differentiated Thyroid Cancers

International audienceDespite its good prognosis, differentiated thyroid cancer (DTC) is characterized by a high risk of disease persistence and/or recurrence. Estimation of long-term remission (excellent response) thanks to specific parameters could help to personalize the schedule of active surveillance