Eintrag weiter verarbeiten
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland
Gespeichert in:
| Zeitschriftentitel: | Clinical Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , |
| In: | Clinical Genetics, 64, 2003, 6, S. 502-508 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J |
|---|---|
| author |
Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J |
| spellingShingle |
Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J Clinical Genetics Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland Genetics (clinical) Genetics |
| author_sort |
janiszewska, h |
| spelling |
Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1046/j.1399-0004.2003.00178.x <jats:p>A group of 63 families from the Pomerania–Kujawy region were analyzed for three <jats:italic>BRCA1</jats:italic> gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. <jats:italic>BRCA1</jats:italic> mutation was revealed in nine (14%) families: in three (33%) of hereditary BrCa and OvCa families, in three (8%) of hereditary BrCa families, and in three (21%) of hereditary OvCa families. According to risk criteria, it was revealed in 45% of high‐risk families with more than three cancers, 13% of moderate‐risk families with two cancers, and 8% of families with sporadic OvCa. In six families, the mutation was found in a proband with BrCa or OvCa and in three families, the mutation was found in a healthy proband, first‐degree relative of a patient deceased of BrCa or OvCa. 5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations. 4153delA frameshift mutation was not found in analyzed sample of families. 5382insC mutation was found in 9% and 300T>G in 5% of all investigated families, and in 27 and 18%, respectively, of high‐risk families. This underlines the importance of applying strict inclusion criteria to analyze mutation frequency in hereditary BrCa/OvCa families.</jats:p> Frequency of three <i>BRCA1</i> gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland Clinical Genetics |
| doi_str_mv |
10.1046/j.1399-0004.2003.00178.x |
| facet_avail |
Online |
| finc_class_facet |
Biologie |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA0Ni9qLjEzOTktMDAwNC4yMDAzLjAwMTc4Lng |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA0Ni9qLjEzOTktMDAwNC4yMDAzLjAwMTc4Lng |
| institution |
DE-Zi4 DE-Gla1 DE-15 DE-Pl11 DE-Rs1 DE-14 DE-105 DE-Ch1 DE-L229 DE-D275 DE-Bn3 DE-Brt1 DE-D161 |
| imprint |
Wiley, 2003 |
| imprint_str_mv |
Wiley, 2003 |
| issn |
0009-9163 1399-0004 |
| issn_str_mv |
0009-9163 1399-0004 |
| language |
English |
| mega_collection |
Wiley (CrossRef) |
| match_str |
janiszewska2003frequencyofthreebrca1genefoundermutationsinbreastovariancancerfamiliesfromthepomeraniakujawyregionofpoland |
| publishDateSort |
2003 |
| publisher |
Wiley |
| recordtype |
ai |
| record_format |
ai |
| series |
Clinical Genetics |
| source_id |
49 |
| title |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_unstemmed |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_full |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_fullStr |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_full_unstemmed |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_short |
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_sort |
frequency of three <i>brca1</i> gene founder mutations in breast/ovarian cancer families from the pomerania–kujawy region of poland |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1046/j.1399-0004.2003.00178.x |
| publishDate |
2003 |
| physical |
502-508 |
| description |
<jats:p>A group of 63 families from the Pomerania–Kujawy region were analyzed for three <jats:italic>BRCA1</jats:italic> gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. <jats:italic>BRCA1</jats:italic> mutation was revealed in nine (14%) families: in three (33%) of hereditary BrCa and OvCa families, in three (8%) of hereditary BrCa families, and in three (21%) of hereditary OvCa families. According to risk criteria, it was revealed in 45% of high‐risk families with more than three cancers, 13% of moderate‐risk families with two cancers, and 8% of families with sporadic OvCa. In six families, the mutation was found in a proband with BrCa or OvCa and in three families, the mutation was found in a healthy proband, first‐degree relative of a patient deceased of BrCa or OvCa. 5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations. 4153delA frameshift mutation was not found in analyzed sample of families. 5382insC mutation was found in 9% and 300T>G in 5% of all investigated families, and in 27 and 18%, respectively, of high‐risk families. This underlines the importance of applying strict inclusion criteria to analyze mutation frequency in hereditary BrCa/OvCa families.</jats:p> |
| container_issue |
6 |
| container_start_page |
502 |
| container_title |
Clinical Genetics |
| container_volume |
64 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792340335444099083 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T16:02:22.86Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=Frequency+of+three+BRCA1+gene+founder+mutations+in+breast%2Fovarian+cancer+families+from+the+Pomerania%E2%80%93Kujawy+region+of+Poland&rft.date=2003-12-01&genre=article&issn=1399-0004&volume=64&issue=6&spage=502&epage=508&pages=502-508&jtitle=Clinical+Genetics&atitle=Frequency+of+three+%3Ci%3EBRCA1%3C%2Fi%3E+gene+founder+mutations+in+breast%2Fovarian+cancer+families+from+the+Pomerania%E2%80%93Kujawy+region+of+Poland&aulast=Lubi%C5%84ski&aufirst=J&rft_id=info%3Adoi%2F10.1046%2Fj.1399-0004.2003.00178.x&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792340335444099083 |
| author | Janiszewska, H, Haus, O, Lauda‐Świeciak, A, Pasińska, M, Laskowski, R, Szymański, W, Górski, B, Lubiński, J |
| author_facet | Janiszewska, H, Haus, O, Lauda‐Świeciak, A, Pasińska, M, Laskowski, R, Szymański, W, Górski, B, Lubiński, J, Janiszewska, H, Haus, O, Lauda‐Świeciak, A, Pasińska, M, Laskowski, R, Szymański, W, Górski, B, Lubiński, J |
| author_sort | janiszewska, h |
| container_issue | 6 |
| container_start_page | 502 |
| container_title | Clinical Genetics |
| container_volume | 64 |
| description | <jats:p>A group of 63 families from the Pomerania–Kujawy region were analyzed for three <jats:italic>BRCA1</jats:italic> gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. <jats:italic>BRCA1</jats:italic> mutation was revealed in nine (14%) families: in three (33%) of hereditary BrCa and OvCa families, in three (8%) of hereditary BrCa families, and in three (21%) of hereditary OvCa families. According to risk criteria, it was revealed in 45% of high‐risk families with more than three cancers, 13% of moderate‐risk families with two cancers, and 8% of families with sporadic OvCa. In six families, the mutation was found in a proband with BrCa or OvCa and in three families, the mutation was found in a healthy proband, first‐degree relative of a patient deceased of BrCa or OvCa. 5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations. 4153delA frameshift mutation was not found in analyzed sample of families. 5382insC mutation was found in 9% and 300T>G in 5% of all investigated families, and in 27 and 18%, respectively, of high‐risk families. This underlines the importance of applying strict inclusion criteria to analyze mutation frequency in hereditary BrCa/OvCa families.</jats:p> |
| doi_str_mv | 10.1046/j.1399-0004.2003.00178.x |
| facet_avail | Online |
| finc_class_facet | Biologie |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTA0Ni9qLjEzOTktMDAwNC4yMDAzLjAwMTc4Lng |
| imprint | Wiley, 2003 |
| imprint_str_mv | Wiley, 2003 |
| institution | DE-Zi4, DE-Gla1, DE-15, DE-Pl11, DE-Rs1, DE-14, DE-105, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-D161 |
| issn | 0009-9163, 1399-0004 |
| issn_str_mv | 0009-9163, 1399-0004 |
| language | English |
| last_indexed | 2024-03-01T16:02:22.86Z |
| match_str | janiszewska2003frequencyofthreebrca1genefoundermutationsinbreastovariancancerfamiliesfromthepomeraniakujawyregionofpoland |
| mega_collection | Wiley (CrossRef) |
| physical | 502-508 |
| publishDate | 2003 |
| publishDateSort | 2003 |
| publisher | Wiley |
| record_format | ai |
| recordtype | ai |
| series | Clinical Genetics |
| source_id | 49 |
| spelling | Janiszewska, H Haus, O Lauda‐Świeciak, A Pasińska, M Laskowski, R Szymański, W Górski, B Lubiński, J 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1046/j.1399-0004.2003.00178.x <jats:p>A group of 63 families from the Pomerania–Kujawy region were analyzed for three <jats:italic>BRCA1</jats:italic> gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. <jats:italic>BRCA1</jats:italic> mutation was revealed in nine (14%) families: in three (33%) of hereditary BrCa and OvCa families, in three (8%) of hereditary BrCa families, and in three (21%) of hereditary OvCa families. According to risk criteria, it was revealed in 45% of high‐risk families with more than three cancers, 13% of moderate‐risk families with two cancers, and 8% of families with sporadic OvCa. In six families, the mutation was found in a proband with BrCa or OvCa and in three families, the mutation was found in a healthy proband, first‐degree relative of a patient deceased of BrCa or OvCa. 5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations. 4153delA frameshift mutation was not found in analyzed sample of families. 5382insC mutation was found in 9% and 300T>G in 5% of all investigated families, and in 27 and 18%, respectively, of high‐risk families. This underlines the importance of applying strict inclusion criteria to analyze mutation frequency in hereditary BrCa/OvCa families.</jats:p> Frequency of three <i>BRCA1</i> gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland Clinical Genetics |
| spellingShingle | Janiszewska, H, Haus, O, Lauda‐Świeciak, A, Pasińska, M, Laskowski, R, Szymański, W, Górski, B, Lubiński, J, Clinical Genetics, Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland, Genetics (clinical), Genetics |
| title | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_full | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_fullStr | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_full_unstemmed | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_short | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| title_sort | frequency of three <i>brca1</i> gene founder mutations in breast/ovarian cancer families from the pomerania–kujawy region of poland |
| title_unstemmed | Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1046/j.1399-0004.2003.00178.x |