Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect

Evers, Christina; Fischer, Christine; Dikow, Nicola; Schott, Sarah

doi:10.1371/journal.pone.0177893

Cited by 13 publications

(13 citation statements)

References 38 publications

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“…In the majority of cases (78.7% (942/1197)), the reason for referral was a personal or family history of Breast and/or Ovarian cancer and affected individuals were tested within 1 year of diagnosis. This is indicative of a bigger awareness in terms of preventive diagnosis for this tumor type, especially following the publicity received by the BRCA1 and BRCA2 genes due to the “Jolie effect” [42, 43]. Variant analysis revealed the presence of at least one clinically significant variant in 22.1% of the individuals analyzed, while a VUS was identified in 34.8% (417/1197) of the cases.…”

Section: Discussionmentioning

confidence: 98%

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

et al. 2019

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Background Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory. Methods In total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4 years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA). Results A pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the BRCA1/2 genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR. Conclusions In our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition. Electronic supplementary material The online version of this article (10.1186/s12885-019-5756-4) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 98%

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

et al. 2019

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“…The demand for clinical cancer genetics services has grown rapidly in recent years, mainly as a result of raised awareness both within the medical community and among the general population (Evers et al 2017;Juthe et al 2015). Furthermore, the influence of germline genetic testing on treatment-based decisions (e.g.…”

Section: Introductionmentioning

confidence: 99%

Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service

Shaw

Metras

Ting

et al. 2018

Journal of Genetic Counseling

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The increase in demand for clinical cancer genetics services has impacted the ability to provide services timeously. Given limited resources, this often results in extended appointment waiting times. Over the last 3 years, the Cancer Genetics Service at the National Cancer Centre Singapore has continued to experience a steady increase in demand for its service. Nevertheless, significant no-show rates have been reported. This study sought to determine whether an association exists between appointment waiting times and attendance rates. Data was gathered for all participants meeting inclusion criteria. Attendance rates and appointment waiting times were calculated. The relationship between mean waiting times for those who did and did not attend their scheduled appointments was evaluated using Welch's t test and linear regression model. The results showed a significant difference in mean appointment waiting times between patients who did and did not attend (32.66 versus 43.50 days respectively; p < 0.0001). Furthermore, patients who waited for longer than 37 days were significantly less likely to attend. No-show rates increased as the waiting time increased, at a rate of 19.60% per 20 days and 21.40% per 30 days. In conclusion, appointment waiting time is a significant predictor for patient attendance. Strategies to ensure patients receive an appointment within the necessary timeframe at the desired setting are important to ensure that individuals at increased cancer risk attend their appointments in order to manage their cancer risks effectively.

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“…Previously published studies have reported an increase in referrals due to the so-called Angelina Jolie effect [18, 19]. The BC patients in our study were diagnosed between 2000 and 2013.…”

Section: Discussionmentioning

confidence: 60%

Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer: A Population-Based Study in Southern Sweden

Augustinsson¹,

Ellberg

Kristoffersson

et al. 2020

Public Health Genomics

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Swedish national breast cancer guidelines recommend that all women diagnosed with breast cancer (BC) at the age of 35 years or younger should be referred to their regional oncogenetic clinic for genetic counseling and testing, regardless of family history of cancer. The main objective of this study was to evaluate whether place of residence at BC diagnosis and treating hospital were associated with the fact that not all BC patients diagnosed at ≤35 years in the southern part of Sweden have attended genetic counseling and testing. Between 2000 and 2013, 279 women in the South Swedish Health Care Region were diagnosed with BC at ≤35 years. Information regarding place of residence at BC diagnosis, treating hospital, time of registration and first meeting at the Oncogenetic Clinic in Lund, and genetic testing was collected. With a follow-up period until August 2018, 64% were registered at the clinic (60% underwent genetic testing) and 36% were not. BC patients from 2 counties and from rural settings with a population of < 10,000 inhabitants were significantly less likely to be registered at the clinic. Our results suggest that place of residence at BC diagnosis and treating hospital were associated with the probability of referral for genetic counseling and testing for women diagnosed with BC at ≤35 years in the South Swedish Health Care Region. We propose, as a generalizable finding, that further educational and outreach activities within the health care system and the community may be needed to ensure that all women diagnosed with early-onset BC receive proper genetic counseling.

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Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect

Cited by 13 publications

References 38 publications

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service

Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer: A Population-Based Study in Southern Sweden

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