{"id":{"repo_id":"lund","oai_identifier":"oai:lup.lub.lu.se:2f01693f-4c95-4d8e-a1f5-3777a0e4ea35"},"canonical_url":"https://search.dev.ndltd.org/etd/lund/oai:lup.lub.lu.se:2f01693f-4c95-4d8e-a1f5-3777a0e4ea35","repository":{"repo_id":"lund","name":"University of Lund","base_url":"https://lup.lub.lu.se/oai"},"display":{"title":"Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers.","abstract":"Background: Cutaneous malignant melanoma (CMM) is an increasingly common cancer in fair-skinned people. The purpose of this thesis was to study high-risk patients with multiple tumours including a CMM, high-risk families with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. Methods: Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped according to subsequent cancers (Paper I). Possible similarities in tumour patterns were studied in their close relatives (Paper II*). Further, melanoma-prone families in southern Sweden with the 113insArg/CDKN2A mutation were phenotyped and genotyped (Paper III). Finally, a population-based cohort of originally 40.000 women was prospectively followed for 18 years regarding CMM after answering a questionnaire about CMM risk factors (Paper IV). Results: Papers I-II: The mutation was overrepresented in probands with multiple CMM. Non-mutation probands presented e.g. Neural System Tumours (NSTs), adenocarcinomas and non-melanoma skin cancer (NMSC), which were also seen in their relatives. For the relatives an overall increased risk for cancer was seen. Paper III: Positive mutation status was associated with clinically atypical nevi (CAN), and CMM diagnosis with red hair colour and CAN. No CMM were diagnosed in non-mutation carriers. The overall total nevus count (median 12, IQR: 5-25) and rate of individuals affected by CAN (14%), were lower in these families than shown in previous, population-based, Swedish studies. No atypical mole syndrome (AMS) phenotype was seen. Paper IV: Family history and ≥1 nevus on the left arm were risk factors for CMM, irrespective of age of the participants. Younger women with a history of frequent sunbed use had an additionally increased risk for CMM. CMM on the trunk were associated with a family history of CMM, a high nevus number and the youngest age at diagnosis. Conclusions: The 113insArg/CDKN2A mutation in these melanom-prone families is difficult to diagnose dermatologically, but the presence of CMM seems to be completely associated with the mutation. Hence, mutation carriers must be followed-up by dermatologists irrespective of phenotype. The population-based risks for CMM in southern Swedish women seem to be associated with a family history of CMM, a higher nevus number and, for younger women, the use of sunbeds. *Supplement.","abstract_html":"Background: Cutaneous malignant melanoma (CMM) is an increasingly common cancer in fair-skinned people. The purpose of this thesis was to study high-risk patients with multiple tumours including a CMM, high-risk families with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. Methods: Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped according to subsequent cancers (Paper I). Possible similarities in tumour patterns were studied in their close relatives (Paper II*). Further, melanoma-prone families in southern Sweden with the 113insArg/CDKN2A mutation were phenotyped and genotyped (Paper III). Finally, a population-based cohort of originally 40.000 women was prospectively followed for 18 years regarding CMM after answering a questionnaire about CMM risk factors (Paper IV). Results: Papers I-II: The mutation was overrepresented in probands with multiple CMM. Non-mutation probands presented e.g. Neural System Tumours (NSTs), adenocarcinomas and non-melanoma skin cancer (NMSC), which were also seen in their relatives. For the relatives an overall increased risk for cancer was seen. Paper III: Positive mutation status was associated with clinically atypical nevi (CAN), and CMM diagnosis with red hair colour and CAN. No CMM were diagnosed in non-mutation carriers. The overall total nevus count (median 12, IQR: 5-25) and rate of individuals affected by CAN (14%), were lower in these families than shown in previous, population-based, Swedish studies. No atypical mole syndrome (AMS) phenotype was seen. Paper IV: Family history and ≥1 nevus on the left arm were risk factors for CMM, irrespective of age of the participants. Younger women with a history of frequent sunbed use had an additionally increased risk for CMM. CMM on the trunk were associated with a family history of CMM, a high nevus number and the youngest age at diagnosis. Conclusions: The 113insArg/CDKN2A mutation in these melanom-prone families is difficult to diagnose dermatologically, but the presence of CMM seems to be completely associated with the mutation. Hence, mutation carriers must be followed-up by dermatologists irrespective of phenotype. The population-based risks for CMM in southern Swedish women seem to be associated with a family history of CMM, a higher nevus number and, for younger women, the use of sunbeds. *Supplement.","abstract_has_math":false,"creators":["Nielsen, Kari"],"institution":"Lund University, Faculty of Medicine","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2009,"date_issued":"2009","date_published":"2009","updated_at":"2026-07-24T02:59:36Z","subjects":["Dermatology and Venereal Diseases","clinically atypical nevus","nevus","CDKN2A","melanoma","risk factors","sunbed","UVR"],"languages":["eng"],"rights":["info:eu-repo/semantics/openAccess"],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["urn:isbn:978-91-86253-99-8"],"render_values":[{"text":"urn:isbn:978-91-86253-99-8","href":null,"code":true}]}]},"links":{"outbound_url":"https://lup.lub.lu.se/record/1494438","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:creator","label":"Author","values":["Nielsen, Kari"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2009"]},{"key":"dc:publisher","label":"Institution","values":["Lund University, Faculty of Medicine"]},{"key":"dc:type","label":"Dc Type","values":["thesis/doccomp","info:eu-repo/semantics/doctoralThesis","text"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Dermatology and Venereal Diseases","clinically atypical nevus","nevus","CDKN2A","melanoma","risk factors","sunbed","UVR"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["eng"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://lup.lub.lu.se/record/1494438","urn:isbn:978-91-86253-99-8","https://portal.research.lu.se/files/3311482/1496206.pdf"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Background: Cutaneous malignant melanoma (CMM) is an increasingly common cancer in fair-skinned people. The purpose of this thesis was to study high-risk patients with multiple tumours including a CMM, high-risk families with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. Methods: Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped according to subsequent cancers (Paper I). Possible similarities in tumour patterns were studied in their close relatives (Paper II*). Further, melanoma-prone families in southern Sweden with the 113insArg/CDKN2A mutation were phenotyped and genotyped (Paper III). Finally, a population-based cohort of originally 40.000 women was prospectively followed for 18 years regarding CMM after answering a questionnaire about CMM risk factors (Paper IV). Results: Papers I-II: The mutation was overrepresented in probands with multiple CMM. Non-mutation probands presented e.g. Neural System Tumours (NSTs), adenocarcinomas and non-melanoma skin cancer (NMSC), which were also seen in their relatives. For the relatives an overall increased risk for cancer was seen. Paper III: Positive mutation status was associated with clinically atypical nevi (CAN), and CMM diagnosis with red hair colour and CAN. No CMM were diagnosed in non-mutation carriers. The overall total nevus count (median 12, IQR: 5-25) and rate of individuals affected by CAN (14%), were lower in these families than shown in previous, population-based, Swedish studies. No atypical mole syndrome (AMS) phenotype was seen. Paper IV: Family history and ≥1 nevus on the left arm were risk factors for CMM, irrespective of age of the participants. Younger women with a history of frequent sunbed use had an additionally increased risk for CMM. CMM on the trunk were associated with a family history of CMM, a high nevus number and the youngest age at diagnosis. Conclusions: The 113insArg/CDKN2A mutation in these melanom-prone families is difficult to diagnose dermatologically, but the presence of CMM seems to be completely associated with the mutation. Hence, mutation carriers must be followed-up by dermatologists irrespective of phenotype. The population-based risks for CMM in southern Swedish women seem to be associated with a family history of CMM, a higher nevus number and, for younger women, the use of sunbeds. *Supplement."]},{"key":"dc:format","label":"Dc Format","values":["application/pdf"]},{"key":"dc:source","label":"Dc Source","values":["Lund University Faculty of Medicine Doctoral Dissertation Series; 2009:111 (2009)","ISSN: 1652-8220"]},{"key":"dc:title","label":"Title","values":["Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers."]}]}],"canonical_facts":{"dc:creator":["Nielsen, Kari"],"dc:date":["2009"],"dc:description":["Background: Cutaneous malignant melanoma (CMM) is an increasingly common cancer in fair-skinned people. The purpose of this thesis was to study high-risk patients with multiple tumours including a CMM, high-risk families with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. Methods: Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped according to subsequent cancers (Paper I). Possible similarities in tumour patterns were studied in their close relatives (Paper II*). Further, melanoma-prone families in southern Sweden with the 113insArg/CDKN2A mutation were phenotyped and genotyped (Paper III). Finally, a population-based cohort of originally 40.000 women was prospectively followed for 18 years regarding CMM after answering a questionnaire about CMM risk factors (Paper IV). Results: Papers I-II: The mutation was overrepresented in probands with multiple CMM. Non-mutation probands presented e.g. Neural System Tumours (NSTs), adenocarcinomas and non-melanoma skin cancer (NMSC), which were also seen in their relatives. For the relatives an overall increased risk for cancer was seen. Paper III: Positive mutation status was associated with clinically atypical nevi (CAN), and CMM diagnosis with red hair colour and CAN. No CMM were diagnosed in non-mutation carriers. The overall total nevus count (median 12, IQR: 5-25) and rate of individuals affected by CAN (14%), were lower in these families than shown in previous, population-based, Swedish studies. No atypical mole syndrome (AMS) phenotype was seen. Paper IV: Family history and ≥1 nevus on the left arm were risk factors for CMM, irrespective of age of the participants. Younger women with a history of frequent sunbed use had an additionally increased risk for CMM. CMM on the trunk were associated with a family history of CMM, a high nevus number and the youngest age at diagnosis. Conclusions: The 113insArg/CDKN2A mutation in these melanom-prone families is difficult to diagnose dermatologically, but the presence of CMM seems to be completely associated with the mutation. Hence, mutation carriers must be followed-up by dermatologists irrespective of phenotype. The population-based risks for CMM in southern Swedish women seem to be associated with a family history of CMM, a higher nevus number and, for younger women, the use of sunbeds. *Supplement."],"dc:format":["application/pdf"],"dc:identifier":["https://lup.lub.lu.se/record/1494438","urn:isbn:978-91-86253-99-8","https://portal.research.lu.se/files/3311482/1496206.pdf"],"dc:language":["eng"],"dc:publisher":["Lund University, Faculty of Medicine"],"dc:rights":["info:eu-repo/semantics/openAccess"],"dc:source":["Lund University Faculty of Medicine Doctoral Dissertation Series; 2009:111 (2009)","ISSN: 1652-8220"],"dc:subject":["Dermatology and Venereal Diseases","clinically atypical nevus","nevus","CDKN2A","melanoma","risk factors","sunbed","UVR"],"dc:title":["Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers."],"dc:type":["thesis/doccomp","info:eu-repo/semantics/doctoralThesis","text"]},"updated_at":"2026-07-24T02:59:36Z"}