<it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations
<p>Abstract</p> <p>Familial Adenomatous Polyposis (FAP) is an inheritable predisposition for the occurrence of numerous polyps in the large intestine. In about 50% of all patients, the occurrence of the disease is conditioned by heterozygotic mutations of the <it>APC </it&...
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| Format: | Article |
| Language: | English |
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BMC
2006-01-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/4/1/43 |
| _version_ | 1828406212640636928 |
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| author | Skrzypczak Marzena Podralska Marta Heinritz Wolfram Froster Ursula G Lipiński Daniel Słomski Ryszard Pławski Andrzej |
| author_facet | Skrzypczak Marzena Podralska Marta Heinritz Wolfram Froster Ursula G Lipiński Daniel Słomski Ryszard Pławski Andrzej |
| author_sort | Skrzypczak Marzena |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Familial Adenomatous Polyposis (FAP) is an inheritable predisposition for the occurrence of numerous polyps in the large intestine. In about 50% of all patients, the occurrence of the disease is conditioned by heterozygotic mutations of the <it>APC </it>gene. Screening for genetic factors in persons without mutations in the <it>APC </it>gene led to the identification of homozygotic mutations of the <it>MYH </it>gene as the cause of the appearance of the polyposis form which is characterized by recessive heritability and a milder course than in the case of the classic form of the disease. The authors examined 90 persons from the DNA bank of patients with FAP from the Institute of Human Genetics of the Polish Academy of Sciences in Poznań in whom no mutations in the <it>APC </it>gene were detected. Two of the most frequent mutations of the <it>MYH </it>gene (Y165C and G382D) were found to be heterozygous in 13% of patients and no other mutations in this gene coding sequence were observed. In the group with heterozygotic occurrence of the mutation in the <it>MYH </it>gene, the disease phenotype was not milder in comparison with the entire examined group and the mean age of the disease manifestation was even lower. This observation allows one to conclude that the employed methods of mutation screening were correct and, in the case of the examined group, the mutation ratio of the <it>MYH </it>gene does not precondition the occurrence of the disease, but it cannot be excluded that it may modify its phenotype. The obtained results indicate that the criteria applied during the process of FAP qualification are more rigorous than those applied in other countries.</p> |
| first_indexed | 2024-12-10T11:08:36Z |
| format | Article |
| id | doaj.art-3fd030f6381047d1828164a54a5fb694 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-12-10T11:08:36Z |
| publishDate | 2006-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-3fd030f6381047d1828164a54a5fb6942022-12-22T01:51:30ZengBMCHereditary Cancer in Clinical Practice1897-42872006-01-0141434710.1186/1897-4287-4-1-43<it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene MutationsSkrzypczak MarzenaPodralska MartaHeinritz WolframFroster Ursula GLipiński DanielSłomski RyszardPławski Andrzej<p>Abstract</p> <p>Familial Adenomatous Polyposis (FAP) is an inheritable predisposition for the occurrence of numerous polyps in the large intestine. In about 50% of all patients, the occurrence of the disease is conditioned by heterozygotic mutations of the <it>APC </it>gene. Screening for genetic factors in persons without mutations in the <it>APC </it>gene led to the identification of homozygotic mutations of the <it>MYH </it>gene as the cause of the appearance of the polyposis form which is characterized by recessive heritability and a milder course than in the case of the classic form of the disease. The authors examined 90 persons from the DNA bank of patients with FAP from the Institute of Human Genetics of the Polish Academy of Sciences in Poznań in whom no mutations in the <it>APC </it>gene were detected. Two of the most frequent mutations of the <it>MYH </it>gene (Y165C and G382D) were found to be heterozygous in 13% of patients and no other mutations in this gene coding sequence were observed. In the group with heterozygotic occurrence of the mutation in the <it>MYH </it>gene, the disease phenotype was not milder in comparison with the entire examined group and the mean age of the disease manifestation was even lower. This observation allows one to conclude that the employed methods of mutation screening were correct and, in the case of the examined group, the mutation ratio of the <it>MYH </it>gene does not precondition the occurrence of the disease, but it cannot be excluded that it may modify its phenotype. The obtained results indicate that the criteria applied during the process of FAP qualification are more rigorous than those applied in other countries.</p>http://www.hccpjournal.com/content/4/1/43MYHFamilial PolyposisPoland |
| spellingShingle | Skrzypczak Marzena Podralska Marta Heinritz Wolfram Froster Ursula G Lipiński Daniel Słomski Ryszard Pławski Andrzej <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations Hereditary Cancer in Clinical Practice MYH Familial Polyposis Poland |
| title | <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations |
| title_full | <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations |
| title_fullStr | <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations |
| title_full_unstemmed | <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations |
| title_short | <it>MYH </it>Gene Status in Polish FAP Patients without <it>APC </it>Gene Mutations |
| title_sort | it myh it gene status in polish fap patients without it apc it gene mutations |
| topic | MYH Familial Polyposis Poland |
| url | http://www.hccpjournal.com/content/4/1/43 |
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