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Sökning: WFRF:(von Salome Jenny) > (2020-2024)

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1.
  • Nääs, Charlotta, et al. (författare)
  • Patients’ perceptions and practices of informing relatives : a qualitative study within a randomised trial on healthcare-assisted risk disclosure
  • 2024
  • Ingår i: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438.
  • Tidskriftsartikel (refereegranskat)abstract
    • In a multicentre randomised controlled trial (DIRECT), we evaluate whether an intervention of providing direct letters from healthcare professionals to at-risk relatives (ARRs) affects the proportion of ARRs contacting a cancer genetics clinic, compared with patient-mediated disclosure alone (control). With the aim to explore how the patients included in the trial perceived and performed risk communication with their ARRs we analysed 17 semi-structured interviews with reflexive thematic analysis. All patients described that they disclosed risk information to all close relatives themselves. No integrity-related issues were reported by patients offered the intervention, and all of them accepted direct letters to all their ARRs. Patients’ approaches to informing distant relatives were unpredictable and varied from contacting all distant ARRs, sharing the burden with the family, utilising the offer of sending direct letters, vaguely relying on others to inform, or postponing disclosure. Most patients limited their responsibility to the disclosure, although others wanted relatives to get genetic counselling or felt a need to provide additional information to the ARRs before ending their mission. We also identified confusion about the implication of test results, who needed risk information, and who was responsible for informing ARRs. These misunderstandings possibly also affected risk disclosure. This study revealed that despite accepting the direct letters to be sent to all relatives, the patients also contributed to risk disclosure in other ways. It was only in some situations to distant relatives that the healthcare-assisted letter was the only means of communication to the ARRs.
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2.
  • Salomé, Jenny von (författare)
  • Clinical aspects of Lynch syndrome
  • 2020
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Colorectal cancer is the second most common cancer in women and the third most common cancer in men worldwide, with 1.8 million new cases and almost 861000 deaths in 2018. Approximately 5–10% of the annual CRC burden can be attributed to inherited high risk germline mutations. The most common inherited colon cancer syndrome is Lynch syndrome, which accounts for up to 5% of all CRCs. Lynch syndrome displays both genotypic and phenotypic heterogeneity and can be suspected on the basis of a strong family history of colorectal- or endometrial cancer, but also of other tumors. Genetic counselling is recommended for families with Lynch syndrome, to provide the patient and family members with information about cancers risk and options for surveillance and management. In paper I we compared disease associated haplotypes in families from Sweden, Germany and France, all carrying the MLH1 mutation c.2059C>T, in order to elucidate if this is a founder mutation. When analyzing the haplotype in the families with Swedish descent, a shared region of approximately 0.9–2.8 Mb was identified. The MLH1 c.2059C>T mutation thus act as a founder in the Swedish population, but is also found in Europe, Asia and Australia, indicating that this is a recurring mutation globally albeit with a very low allele frequency. In paper II and III we investigated if genetic anticipation was part of the clinical picture in a Swedish cohort of Lynch syndrome families, as well as in a larger European cohort of PMS2 mutation carriers. In paper II, a total 1003 proven mutation carriers from 239 families with Lynch syndrome were included. An anticipation effect of 2,55 years and hazard rate of 1.33 between generations was seen in families with MSH2 mutation. In addition, an anticipation effect of 7.33 years and a hazard ration of 1.86 per generation was shown in families with PMS2 mutation. In paper III, 637 individuals from 123 families with PMS2 mutation were recruited from Netherlands, Norway, Germany, Denmark, Spain, including the Swedish PMS2 patients in paper II. Participants were assigned mutation probabilities in cases of unknown carrier status. As opposed to the result in paper II, an anticipation effect initially shown in a crude analysis was no longer statistically significant when corrections were made for gender and birth cohort. In paper IV we characterized the tumor spectrum, excluding colorectal- and endometrial cancers, in a nationwide cohort of 235 Swedish Lynch syndrome families. Data was stratified for gender, primary cancer, age, and mutated gene. Relative proportions of specific cancer types were compared to corresponding proportions in the reference population from the national Swedish Cancer Registry. Individuals of both sexes in our cohort had a higher proportion of gastric cancer, small bowel cancer and urinary tract cancer compared to the general population. In female mutation carriers, the proportion of ovarian cancer and non-melanoma skin cancer was increased compared to the general population.
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