The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer

Escudeiro, Carla; Pinto, Carla; Vieira, Joana; Peixoto, Ana; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; Guerra, Joana; Lisboa, Susana; Santos, Rui; Silva, João; Leal, Conceição; Coimbra, Nuno; Lopes, Paula; Ferreira, Marco; Sousa, Ana Berta; Teixeira, Manuel R.

doi:10.1007/s10689-020-00212-2

Cited by 4 publications

(3 citation statements)

References 35 publications

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“…in women ≤30 years old and especially in HER2 enriched BC in young women and should be discussed prior to therapy. 11 , 30 , 32 On the other hand, overburdening women with decision‐making about secondary prophylactic measures in the temporal context of primary therapy must be considered and requires further investigation.…”

Section: Discussionmentioning

confidence: 99%

“… 17 , 22 , 26 , 27 There is little evidence about surgical approaches, prophylactic operations (PO) and LFS‐specific BC characteristics besides the described high frequency of HER2‐amplified BC subtypes. 15 , 25 , 28 , 29 , 30 , 31 , 32 To date, LFS is not addressed concretely in the German BC S3 guideline. Recent clinical approaches are based on international recommendations and best experts’ opinions.…”

Section: Introductionmentioning

confidence: 99%

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Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

et al. 2021

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

et al. 2021

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“…Considering that de novo mutations/mosaicism may contribute to non-classic LFS families for TP53 carriers, medical laboratories should ensure the detection of de novo/mosaic mutations. More importantly, variants might arise due to clonal hematopoiesis, which can confound germline TP53 mutations and lead to erroneous conclusions in clinical practice [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

Pedigree analysis exploring the inconsistency between diverse phenotypes and testing criteria for germline TP53 mutations in Chinese women with breast cancer

Huang,

Chen,

Lin

et al. 2024

Breast Cancer Res Treat

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Purpose In the present study, we addressed the inconsistency between the testing criteria and diverse phenotypes for germline TP53 mutation in patients with breast cancer in the Chinese population. Method We proposed a new added item (synchronous or metachronous bilateral breast cancer) as one of the testing criteria (aimed at high-penetrance breast cancer susceptibility genes) and applied it for determining TP53 germline mutation status in 420 female patients with breast cancer using multigene panel-based next-generation sequencing, Sanger sequencing, and mass spectrometry. Results We found that 1.4% of patients carried a pathogenic or likely pathogenic germline TP53 mutation. Compared with BRCA mutation carriers (8.0%) and non-carriers (7.1%), TP53 mutation carriers (33.3%) developed breast cancer earlier. The majority of TP53 mutation carriers (66.7%) developed breast cancer after age 30 and had bilateral breast cancer (33.3%). Pedigree investigation of four TP53 carriers and a patient with a TP53 variant of unknown significance revealed that neither of their parents harbored the same mutations as the probands, indicating that the mutations might occur de novo. Conclusion Our study revealed distinguishing features of TP53 carriers among Chinese women with breast cancer, which is inconsistent with the currently used testing criteria; therefore, the newly proposed testing criteria may be more appropriate.

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HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome

Bottosso,

Sandoval,

Verret

et al. 2024

European Journal of Cancer

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The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer

Cited by 4 publications

References 35 publications

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

Pedigree analysis exploring the inconsistency between diverse phenotypes and testing criteria for germline TP53 mutations in Chinese women with breast cancer

HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome

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