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PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

Abstract Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs.
PMID
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Authors

Mayor MeshTerms
Keywords

Nevoid basal cell carcinoma syndrome

PTCH1

basal cell carcinoma

basaloid follicular hamartoma

basaloid follicular hamartoma syndrome

hereditary cancer

Journal Title anticancer research
Publication Year Start




PMID- 29277811
OWN - NLM
STAT- MEDLINE
DCOM- 20180104
LR  - 20180104
IS  - 1791-7530 (Electronic)
IS  - 0250-7005 (Linking)
VI  - 38
IP  - 1
DP  - 2018 Jan
TI  - PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the
      Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
PG  - 471-476
AB  - BACKGROUND/AIM: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal
      dominantly inherited disorder characterized by multiple basal cell carcinomas
      (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular
      hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and 
      familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS).
      Although BFHS shares clinical, histopathological and genetic overlapping with the
      NBCCS, they are still considered two distinctive entities. The aim of our
      single-institution study was the analysis of a cohort of PTCH1-mutated patients
      in order to define clinical and biomolecular relationship between NBCCS and BFHs.
      MATERIALS AND METHODS: In our study we evaluated PTCH1 gene-carrier probands
      affected by NBCCS to detect the incidence of BFHs and their correlation with this
      rare syndrome. RESULTS: Among probands we recognized 4 patients with BFHs. We
      found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene.
      Six of them had familial history of NBCCS, two of them were novel and have not
      been described previously. CONCLUSION: NBCCS and BFHS may be the same genetic
      entity and not two distinctive syndromes. The inclusion of BFH in the NBCCS
      cutaneous tumor spectrum might be useful for the recognition of misdiagnosed
      NBCCS cases that could benefit from tailored surveillance strategies.
CI  - Copyright(c) 2018, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Ponti, Giovanni
AU  - Ponti G
AD  - Clinical Pathology Unit, Surgical, Medical and Dental Department of Morphological
      Sciences related to Transplant, Oncology and Regenerative Medicine, University of
      Modena and Reggio Emilia, Modena, Italy [email protected]
FAU - Manfredini, Marco
AU  - Manfredini M
AD  - Dermatology Unit, Surgical, Medical and Dental Department of Morphological
      Sciences related to Transplant, Oncology and Regenerative Medicine, University of
      Modena and Reggio Emilia, Modena, Italy.
FAU - Pastorino, Lorenza
AU  - Pastorino L
AD  - Department of Internal Medicine, Medical Specialties and Surgical Science and
      Integrated Diagnostics, University of Genoa, Genoa, Italy.
AD  - Genetics of Rare Cancers, IRCCS AOU San Martino-IST Istituto Nazionale per la
      Ricerca sul Cancro, Genoa, Italy.
FAU - Maccaferri, Monia
AU  - Maccaferri M
AD  - Clinical Pathology Unit, Surgical, Medical and Dental Department of Morphological
      Sciences related to Transplant, Oncology and Regenerative Medicine, University of
      Modena and Reggio Emilia, Modena, Italy.
FAU - Tomasi, Aldo
AU  - Tomasi A
AD  - Department of Diagnostic and Clinical Medicine and Public Health, University of
      Modena and Reggio Emilia, Modena, Italy.
FAU - Pellacani, Giovanni
AU  - Pellacani G
AD  - Dermatology Unit, Surgical, Medical and Dental Department of Morphological
      Sciences related to Transplant, Oncology and Regenerative Medicine, University of
      Modena and Reggio Emilia, Modena, Italy.
LA  - eng
PT  - Journal Article
PL  - Greece
TA  - Anticancer Res
JT  - Anticancer research
JID - 8102988
RN  - 0 (PTCH protein, human)
RN  - 0 (Patched-1 Receptor)
RN  - Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Basal Cell Nevus Syndrome/diagnosis/*genetics/pathology
MH  - Female
MH  - Germ-Line Mutation/genetics
MH  - Hair Follicle/*abnormalities/pathology
MH  - Hamartoma/diagnosis/*genetics/pathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Patched-1 Receptor/*genetics
MH  - Skin Diseases, Genetic/diagnosis/*genetics/pathology
MH  - Skin Neoplasms/*genetics/pathology
MH  - Young Adult
OTO - NOTNLM
OT  - *Nevoid basal cell carcinoma syndrome
OT  - *PTCH1
OT  - *basal cell carcinoma
OT  - *basaloid follicular hamartoma
OT  - *basaloid follicular hamartoma syndrome
OT  - *hereditary cancer
EDAT- 2017/12/27 06:00
MHDA- 2018/01/05 06:00
CRDT- 2017/12/27 06:00
PHST- 2017/10/02 00:00 [received]
PHST- 2017/10/25 00:00 [revised]
PHST- 2017/10/26 00:00 [accepted]
PHST- 2017/12/27 06:00 [entrez]
PHST- 2017/12/27 06:00 [pubmed]
PHST- 2018/01/05 06:00 [medline]
AID - 38/1/471 [pii]
AID - 10.21873/anticanres.12246 [doi]
PST - ppublish
SO  - Anticancer Res. 2018 Jan;38(1):471-476. doi: 10.21873/anticanres.12246.