Research Topic

The Skin in Cancer Predisposition Syndromes

About this Research Topic

About 10% of cancers occur in people who have mutations in one of the many cancer predisposition genes. The suspicion of a "hereditary tumor" is generally placed on the basis of the patient's personal history (young age of onset, multiple synchronous or metachronous tumors) or family history (two or more subjects with similar tumors in two or more generations). Many hereditary tumors occur in subjects who also present non-neoplastic manifestations (cancer predisposition genetic syndromes). In many cases, these syndromes can be the result of "de novo" mutations and, therefore, a family history of tumors may be missing. The ability to recognize these conditions on the basis of non-neoplastic manifestations can allow early surveillance, with possible improvement of the prognosis, as well as the assessment of the risk of recurrence in the offspring.

The aim of this Research Topic is to increase the degree of knowledge and, consequently, of attention, towards the non-neoplastic skin manifestations that are part of the various cancer predisposition genetic syndromes (e.g. café-au-lait spots in Neurofibromatosis 1; hypochromic spots in Tuberous Sclerosis; lipomas, hemangiomas and penile freckling in PTEN hamartoma tumor syndrome, etc.), in order to be able to use them as an element of suspicion of these conditions, before cancer develops. The growing knowledge on the so-called "hereditary tumors" and the ever more widespread availability of genetic tests can allow, in many cases, to recognize with certainty the subjects at increased risk of cancer, provided that these conditions are suspected and diagnosed. The possibility of correlating a specific skin phenotype with the suspicion of a cancer predisposition genetic syndrome can motivate and guide the execution of a genetic test for diagnostic confirmation. The inclusion of genetic information in the patient's clinical management will allow the implementation of personalized surveillance and treatment measures, both for neoplastic and non-neoplastic manifestations that may be foreseeable.

Accordingly, in this Research Topic we welcome original research articles and are open to review articles focusing on:
• Specificity and frequency of the association of the various skin manifestations with the different syndromes
• Criteria for carrying out molecular analysis
• The molecular pathways that determine both the skin picture and the cancer predisposition
• New potential targeted therapies
• Surveillance protocols or, if absent, recommendations for the surveillance of tumor and extra-tumoral complications, when foreseeable.


Keywords: Cancer, Genetics, Skin, Phenotype, Syndrome


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

About 10% of cancers occur in people who have mutations in one of the many cancer predisposition genes. The suspicion of a "hereditary tumor" is generally placed on the basis of the patient's personal history (young age of onset, multiple synchronous or metachronous tumors) or family history (two or more subjects with similar tumors in two or more generations). Many hereditary tumors occur in subjects who also present non-neoplastic manifestations (cancer predisposition genetic syndromes). In many cases, these syndromes can be the result of "de novo" mutations and, therefore, a family history of tumors may be missing. The ability to recognize these conditions on the basis of non-neoplastic manifestations can allow early surveillance, with possible improvement of the prognosis, as well as the assessment of the risk of recurrence in the offspring.

The aim of this Research Topic is to increase the degree of knowledge and, consequently, of attention, towards the non-neoplastic skin manifestations that are part of the various cancer predisposition genetic syndromes (e.g. café-au-lait spots in Neurofibromatosis 1; hypochromic spots in Tuberous Sclerosis; lipomas, hemangiomas and penile freckling in PTEN hamartoma tumor syndrome, etc.), in order to be able to use them as an element of suspicion of these conditions, before cancer develops. The growing knowledge on the so-called "hereditary tumors" and the ever more widespread availability of genetic tests can allow, in many cases, to recognize with certainty the subjects at increased risk of cancer, provided that these conditions are suspected and diagnosed. The possibility of correlating a specific skin phenotype with the suspicion of a cancer predisposition genetic syndrome can motivate and guide the execution of a genetic test for diagnostic confirmation. The inclusion of genetic information in the patient's clinical management will allow the implementation of personalized surveillance and treatment measures, both for neoplastic and non-neoplastic manifestations that may be foreseeable.

Accordingly, in this Research Topic we welcome original research articles and are open to review articles focusing on:
• Specificity and frequency of the association of the various skin manifestations with the different syndromes
• Criteria for carrying out molecular analysis
• The molecular pathways that determine both the skin picture and the cancer predisposition
• New potential targeted therapies
• Surveillance protocols or, if absent, recommendations for the surveillance of tumor and extra-tumoral complications, when foreseeable.


Keywords: Cancer, Genetics, Skin, Phenotype, Syndrome


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

28 February 2021 Manuscript
31 March 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

28 February 2021 Manuscript
31 March 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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