Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations

Singer, Christian F.; Balmañà, Judith; Bürki, Nicole; Delaloge, Suzette; Filieri, Maria Elisabetta; Gerdes, A M; Grindedal, Eli Marie; Han, Sileni; Johansson, Ola; Kaufman, Bella; Krajc, Mateja; Loman, Niklas; Olàh, Edith; Paluch‐Shimon, Shani; Plavetić, Natalija Dedić; Pohlodek, Kamil; Rhiem, Kerstin; Teixeira, Manuel R.; Evans, D. Gareth

doi:10.1016/j.ejca.2018.10.007

Cited by 30 publications

(28 citation statements)

References 20 publications

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“…However, this pleural abnormality was released, enumeration of CTC and the burden of ctDNA in patient ID3 were decreased after the original regimen combined with trastuzumab treatment. Trastuzumab is an effective target drug for HER2-positive breast cancer [30,31]. Therefore, we speculate the existence of micrometastasis in the lung but not clinically detected.…”

Section: Discussionmentioning

confidence: 80%

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

Yuan

et al. 2020

Preprint

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Background Tumor tissues are usually highly heterogeneous and difficult to characterize which could mislead treatment strategy. Circulating tumor cells (CTCs) represent the most active and invasive tumor cells. This study explored the feasibility of individualized treatment of breast cancer patients based on genome sequencing of single cell CTC. Methods Twenty-four CTCs were identified in three patients with breast cancer. For each patient, one polyploid CTC was captured and on which the whole genome sequencing (WGS) was performed. Based on the histopathological Her-2 status in tumor tissue and the HER2 gene status in WGS results of CTC, we adjusted treatment strategies, and monitored disease progression. Results Patient ID1 and ID2 are Her-2 positive in both primary tumor and HER2 abnormal in the DNA of CTC. In patient ID3, histological examination of primary tumor and liver metastases revealed Her-2 negative, but the WGS analysis of CTC showed that the HER2 gene was amplified and mutated. After adjusting treatment according to the results of CTC sequencing, the liver metastases and pleural effusion were significantly reduced, CTC number and ctDNA burden were decreased. In addition, some potential therapeutic targets and mutations in drug-resistant genes were found. Conclusion The results of CTC sequencing effectively guided treatment of a patient with HER2 gene amplification/mutation in CTC but with Her-2 negative on tumor tissue. CTC sequencing is useful in resolving the heterogeneity of tumors and providing precision medicine for patients.

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Section: Discussionmentioning

confidence: 80%

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

Yuan

et al. 2020

Preprint

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“…However, this pleural abnormality was released, enumeration of CTC and the burden of ctDNA in patient ID3 were decreased after the original regimen combined with trastuzumab treatment. Trastuzumab is an effective target drug for HER2-positive breast cancer [27,28]. Therefore, we speculate the existence of micrometastasis in the lung but not clinically detected.…”

Section: Discussionmentioning

confidence: 80%

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

Yuan

Zhang

et al. 2020

Preprint

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Backgroud: Tumor tissues are usually highly heterogeneous and difficult to characterize which could mislead treatment strategy. Circulating tumor cells (CTCs) represent the most active and invasive tumor cells. This study retrospectively investigated the feasibility of individualized treatment of breast cancer patients based on genome sequencing of single cell CTC. Twenty-four CTCs were identified in three patients with breast cancer. For each patient, one polyploid CTC was captured and on which the whole genome sequencing (WGS) was performed. Based on the histopathological Her-2 status in tumor tissue and the HER2 gene status in WGS results of CTC, we adjusted treatment strategies, and monitored disease progression. Results: Patient ID1 and ID2 are with Her-2 protein overexpression in primary tumors and HER2 gene amplification in the DNA of CTCs. In patient ID3, histological examination of primary tumor and liver metastases revealed Her-2 negative, but the WGS analysis of CTC showed that the HER2 gene was amplified. After adjusting treatment by adding Her-2 inhibitors according to the results of CTC sequencing, the liver metastases and pleural effusion were significantly reduced 2 month later, CTC number and ctDNA burden were decreased, and 18-month progression-free survival (PFS) was recorded. In addition, some potential therapeutic targets and mutations in drug-resistant genes were found. Conclusions: The results of CTC sequencing effectively guided treatment of a patient with HER2 gene amplification in CTC but with Her-2 negative on tumor tissue. CTC sequencing is useful in resolving the heterogeneity of tumors and providing precision medicine for patients.

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“…To ensure that BRCA1/2 testing is beneficial, it is key that those offered testing understand risk information and the advice given, so that informed choices can be made in relation to risk management (Watson et al, 2004). According to international guidelines and professional recommendations, cancer genetic testing should be offered within the context of cancer genetic counselling (CGC) (NICE, 2013;Singer et al, 2019), a communicative process that aims to educate counselees about cancer and support informed decisionmaking about genetic testing and cancer risk-reducing strategies.…”

Section: Introductionmentioning

confidence: 99%

A qualitative study on decision‐making about BRCA1/2 testing in Italian women

et al. 2019

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Objective: In the era of cancer panel testing, new models of genetic counselling providing effective decision-making support are needed. As little is known about Southern European patients' and families' needs and experiences in this regard, we explored Italian women's experiences of clinical BRCA1/2 counselling and testing. Methods:We interviewed 19 Italian women with a strong family history but no personal history of cancer who had had clinical BRCA1/2 testing. Interviews were recorded and transcribed, and qualitative data were organised into themes. Results:Most respondents had decided to pursue testing before pre-test counselling. Although half the sample reported having reached the decision without thinking through its implications, most participants qualified their choice as unequivocally "the right one." Conclusion:A subset of Italian women may arrive at their first cancer genetic consultation having already made a firm decision about testing. To empower women's decision-making, new models of cancer genetic counselling could usefully take into account differences in how they approach the testing process. This includes understanding decision-making from different cultural perspectives. In familistic countries like Italy, for example, decisional support may involve exploring widely shared assumptions regarding responsibilities towards family members and the prioritisation of family over self. K E Y W O R D S BRCA1/2,

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Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations

Cited by 30 publications

References 20 publications

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

Whole Genome Sequencing in single CTC improves clinical outcome in Her-2 negative breast cancer patients

A qualitative study on decision‐making about BRCA1/2 testing in Italian women

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