Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

Cicero, Giuseppe; Luca, Rossella De; Dorangricchia, Patrizia; Coco, Gianluca Lo; Guarnaccia, Cinzia; Fanale, Daniele; Calò, Valentina; Russo, Anna Lo

doi:10.1007/s10897-017-0072-0

Cited by 35 publications

(27 citation statements)

References 37 publications

(51 reference statements)

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“…CDH1 carriers face several challenges, including the burden of cancer treatment, if already affected by DGC or LBC, and the need to decide upon prophylactic surgery if still unaffected. As a result, individuals might experience depressive symptoms [ 107 , 108 ], general distress [ 108 , 109 , 110 ], and anxiety (109), which can impact their decision-making abilities [ 111 , 112 , 113 ]. Psychological support is, therefore, a key component of the multidisciplinary management of these patients [ 114 ].…”

Section: Common Managementsmentioning

confidence: 99%

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Corso

Montagna

Figueiredo

et al. 2020

Cancers

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E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).

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Section: Common Managementsmentioning

confidence: 99%

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Corso

Montagna

Figueiredo

et al. 2020

Cancers

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“…In patients with BRCA1 and/or BRCA2 mutations, the risk of breast cancer is significantly higher, compared with that in the general population, and the histological grade is also more aggressive (8)(9)(10). In addition, men and women carrying BRCA1 and/or BRCA2 mutations have a 50% chance of passing the mutations on to their children, termed hereditary breast and ovarian cancer syndrome, which is characterized by an increased risk of breast cancer and ovarian cancer (11). Therefore, understanding the expression and mutations of BRCA1/2 in breast cancer and ovarian cancer is urgently required in clinical practice, as is examining the mechanism of tumorigenesis.…”

Section: Introductionmentioning

confidence: 99%

Expression and mutations of BRCA in breast cancer and ovarian cancer: Evidence from bioinformatics analyses

Zhu

Zhang

et al. 2018

Int J Mol Med

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Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) are the most well‑known genes linked to breast cancer and ovarian cancer, which are crucial in DNA repair and transcriptional regulation. The present study aimed to elucidate the expression profiles, mutations and interaction networks of BRCA1 and BRCA2, which may provide insights to reveal the mechanisms of BRCA genes ultimately leading to breast or ovarian tumorigenesis. Bioinformatics analyses were performed in the present study. The mRNA levels of BRCA1 and BRCA2 were evaluated using FIREHOSE analysis, SAGE Genie tools and Oncomine analysis. cBioPortal analysis, and Catalogue Of Somatic Mutations In Cancer analysis were used to examine the BRCA1 and BRCA2 mutations. Kaplan‑Meier Plotter analysis was performed to identify the prognostic roles of BRCA1 and BRCA2 in breast cancer and ovarian cancer. The results of the present study showed that the mRNA expression levels of BRCA1 and BRCA2 were elevated in breast cancer and ovarian cancer tissues, compared with their matched normal tissues. Second, several common mutations of BRCA1 and BRCA2 genes were identified in breast cancer and ovarian cancer. Finally, neurofibromin 1, synaptonemal complex protein 2 and tumor protein 53 were predicted to be involved in the interaction network of BRCA1 and BRCA2 in breast cancer and ovarian cancer. Taken together, these results provide a significant insight into certain mutations and proteins involved in the interaction network of BRCA1 and BRCA2, which may have common roles in breast cancer and ovarian cancer. However, the complex mechanism underlying these observations remains to be fully elucidated, and further investigations are required in the future.

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“…33 Overall, further research on familial cancer is needed in the Arab world, particularly large genetic screening programmes and improved genetic counselling. 34 The Saudi Human Genome Project (SGHP) is an initiative that aims to describe the genetic distribution of cancer within Saudi Arabia, and this has been joined by programmes from Qatar, Egypt and the United Arab Emirates (Fig. 1).…”

Section: Introductionmentioning

confidence: 99%

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

et al. 2020

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The study of hereditary cancer, which accounts for~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.

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Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

Cited by 35 publications

References 37 publications

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Expression and mutations of BRCA in breast cancer and ovarian cancer: Evidence from bioinformatics analyses

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

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