Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

Chibon, Fréderic; Primois, Charlotte; Bressieux, Jean-Marc; Lacombe, Didier; Lok, C.; Mauriac, L.; Taı̈eb, Alain; Longy, Michel

doi:10.1136/jmg.2008.058131

Cited by 17 publications

(11 citation statements)

References 41 publications

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“…The same group found large rearrangements or deletions in 0 of 95 CS patients and three of 27 BRRS patients who had no detectable mutation on DGGE analysis. More recently, deletions were found in three of 15 CS patients who were negative for PTEN mutations on DGGE analysis 10. Assuming that DGGE detects mutations in 40–80% of patients meeting CS diagnostic criteria (based on the literature and the current study), this extrapolates to deletions being detected in 4–12% of patients with CS.…”

Section: Discussionmentioning

confidence: 50%

“…A small but as yet undefined proportion of CS patients have deletions or large rearrangements of the PTEN gene. A recent report found such changes in three of 15 patients who were negative for mutations using denaturing gel gradient electrophoresis (DGGE) 10. Another study found no deletions, but approximately 10% of DGGE mutation negative patients had variants in the PTEN promoter 11…”

Section: Introductionmentioning

confidence: 99%

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Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Pilarski

Stephens

Noss

et al. 2011

Journal of Medical Genetics

141

109

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Section: Discussionmentioning

confidence: 50%

Section: Introductionmentioning

confidence: 99%

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Pilarski

Stephens

Noss

et al. 2011

Journal of Medical Genetics

141

109

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show abstract

“…In addition, the methods used here could not have detected large genomic deletions. However, only *5% or less of CS cases are due to such deletions (21,26). Third, individuals in this study did not have a detailed examination for features of CS.…”

Section: Resultsmentioning

confidence: 87%

Frequency of GermlinePTENMutations in Differentiated Thyroid Cancer

Nagy

Ganapathi

Comeras

et al. 2011

Thyroid

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Background: Differentiated thyroid cancer (DTC) is seen in 3%-10% of individuals carrying a germline PTEN mutation. Patients with PTEN mutations are at risk for additional neoplasms as are their affected offspring. However, the frequency of PTEN mutations among DTC cases has not been systematically analyzed. The objective of this study was to determine the frequency of PTEN mutations in an unselected group of patients with DTC and to identify whether additional clinical features might indicate the need for referral for genetic counseling and possible testing. Methods: We collected personal medical and family history information, head circumference data, and blood from 259 consecutively identified clinic-based patients with DTC, unselected for personal or family history. Individuals were categorized for diagnostic criteria for Cowden syndrome (CS) using the 2009 National Comprehensive Cancer Network (NCCN) guidelines and underwent germline PTEN mutation analysis. Results: Two of the 259 patients (0.8%), with both follicular thyroid carcinoma and macrocephaly, were found to carry a germline mutation in the PTEN gene. The PTEN mutation frequency in unselected cases of follicular thyroid carcinoma was 4.8%. Conclusion: The frequency of germline pathogenic PTEN mutations in an unselected series of patients with DTC is relatively low, but it is enriched by considering follicular histology and macrocephaly. These results suggest that by adding head circumference to the clinical assessment, thyroid cancer specialists can more effectively identify patients needing referral for cancer genetic services.

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“…Commercial testing for germline mutations in PTEN failed to show any in exons 1-9. However, a mutation is identified in only 80% of patients who meet clinical criteria [22,23]. On the other hand, recent data suggest that germline sequence variants in various tumor suppressor and/or oncogenes may cooperatively promote tumorigenesis of various tumor types including thyroid cancer [24]-[32].…”

Section: Discussionmentioning

confidence: 99%

Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report

et al. 2009

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IntroductionMultiple distinct tumors arising in a single individual or within members of a family raise the suspicion of a genetic susceptibility disorder.Case presentationWe present the case of a 52-year-old Caucasian woman diagnosed with sebaceous gland carcinoma of the eyelid, followed several years later with subsequent diagnoses of breast cancer and papillary carcinoma of the thyroid. Although the patient was also exposed to radiation from a pipe used in the oil field industry, the constellation of neoplasms in this patient suggests the manifestation of a known hereditary susceptibility cancer syndrome. However, testing for the most likely candidates such as Muir-Torre and Cowden syndrome proved negative.ConclusionWe propose that our patient's clustering of neoplasms either represents a novel cancer susceptibility disorder, of which sebaceous gland carcinoma is a characteristic feature, or is a variant of the Muir-Torre syndrome.

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Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

Abstract: Large rearrangements of the PTEN gene can be involved as causing mutation in Cowden disease and MAPH is an efficient screening methodology to detect such a genetic alteration.

Cited by 17 publications

References 41 publications

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Frequency of GermlinePTENMutations in Differentiated Thyroid Cancer

Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report

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