A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer

Tate, Genshu; Suzuki, Takao; Endo, Yutaka; Mitsuya, Toshiyuki

doi:10.1016/j.cancergencyto.2008.03.013

Cited by 12 publications

(4 citation statements)

References 33 publications

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“…A reasonable explanation for this discrepancy was the relatively close relationship between family history and genetic susceptibility; patients who carry a mutation in BRCA-1 or BRCA-2 may be associated with an increased risk of bilateral carcinoma [26] . In addition, genetic syndromes such as Cowden [27] , Peutz-Jeghers [28] , Li-Fraumeni [29] , and Kindler syndrome [30] may also increase the incidence of BBC.…”

Section: Discussionmentioning

confidence: 99%

A Clinicopathological Study of Early-Stage Synchronous Bilateral Breast Cancer: A Retrospective Evaluation and Prospective Validation of Potential Risk Factors

et al. 2014

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BackgroundThe aim of the present study was to investigate potential risk factors for synchronous bilateral breast cancer sBBC).MethodsA retrospective analysis was performed of patients diagnosed and treated with operable bilateral breast cancer (BBC) between June 2007 and December 2011. Risk factors for sBBC were evaluated in this cohort and further validated in a prospective observational validation analysis of patients between January 2012 and December 2012. Patients treated with operable unilateral breast cancer during the same period were used as a control group.ResultsA total of 11,247 patients with primary breast cancer underwent operations at the Fudan University Shanghai Cancer Center between June 2007 and December 2012. The incidence of sBBC was 1.6%. The age at diagnosis (HR = 2.4, 95% C.I.: 1.4–4.0, p = 0.001), presence of sclerosing adenosis (HR = 11.8, 95% C.I.: 5.3–26.3, p<0.001), lobular carcinoma component involvement (HR = 5.6, 95% C.I.: 2.6–12.1, p<0.001), and family history of first-degree relatives with breast cancer (HR = 2.0, 95% C.I.: 1.1–3.4, p<0.001) were independent risk factors for sBBC. A subsequent validation study failed to confirm the significance of family history. No significant difference on survival was found between patients with early-stage sBBC and control cases.ConclusionsPatients with the presence of sclerosing in the affected breast, and lobular carcinoma component involvement may be at high risk for developing sBBC. This study supports the hypothesis that the host-carcinoma biological relationship, especially for the tumor microenvironment, played a critical role in the carcinogenesis of sBBC.

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Section: Discussionmentioning

confidence: 99%

A Clinicopathological Study of Early-Stage Synchronous Bilateral Breast Cancer: A Retrospective Evaluation and Prospective Validation of Potential Risk Factors

et al. 2014

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“…PTEN is a dual-specificity phosphatase that plays a role as a tumor suppressor by negatively regulating the cell-survival signaling pathway initiated by phosphatidylinositol 3-kinase and the mitogen-activated protein kinase pathways. 1 These syndromes: Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-Like syndrome, are characterized by unregulated cellular proliferation leading to formation of benign hamartomas and malignancies. Because of the rarity of PHTS, data regarding cancer risks in PHTS are limited and mostly based on small series and reports.…”

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confidence: 99%

“…Contrary to what would be expected on the basis of existing literature, papillary cancers of the thyroid (n ϭ 6) were seen more often than follicular cancers (n ϭ 1; Table 1). 1 The lifetime risk of breast cancer in women with PHTS is approximately 25% to 50%; however, tumor biology of breast cancer remains unknown. [3][4][5] In our cohort, breast cancer was seen in 13% of patients.…”

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confidence: 99%

Oncophenotypic Review and Clinical Correlates of Phosphatase and Tensin Homolog on Chromosome 10 Hamartoma Tumor Syndrome

Patnaik

Raza

Khambatta

et al. 2010

JCO

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“…The mutation detected in patient 3 has been reported to generate a truncated protein affecting the functionality of a C-terminal C2 domain with different phenotype expressions [ 9 – 11 ]. Mutation in patient 8 affects a putative tyrosine phosphatase domain affecting the tertiary structure of the protein [ 12 , 13 ]. The molecular effect of the rest of the mutations detected has not been described for the moment.…”

Section: Resultsmentioning

confidence: 99%

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients

Martín-Valbuena,

Gestoso-Uzal,

Justel-Rodríguez

et al. 2024

Childs Nerv Syst

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Objective The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS). Patients and methods Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history. Results Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients. Frontal bossing was the most frequent dysmorphism. Neurological issues were present in most patients. Dental malformations were described for the first time, being present in 27% of the patients. Brain MRI showed anomalies in 57% of the patients. No tumoral lesions were present at the time of the study. Regarding genetics, 72% of the alterations were in the tensin-type C2 domain of PTEN protein. We identified four PTEN genetic alterations for the first time. Conclusions PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.

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A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer

Cited by 12 publications

References 33 publications

A Clinicopathological Study of Early-Stage Synchronous Bilateral Breast Cancer: A Retrospective Evaluation and Prospective Validation of Potential Risk Factors

A Clinicopathological Study of Early-Stage Synchronous Bilateral Breast Cancer: A Retrospective Evaluation and Prospective Validation of Potential Risk Factors

Oncophenotypic Review and Clinical Correlates of Phosphatase and Tensin Homolog on Chromosome 10 Hamartoma Tumor Syndrome

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients

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