Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers
<p>Abstract</p> <p>This work consists of six parts based on seven manuscripts dealing with some aspects of genetic counselling for <it>BRCA1 </it>mutation carriers. It was demonstrated that the risk of breast and ovarian cancer in first-degree relatives of <it>BRC...
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| Format: | Article |
| Language: | English |
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BMC
2007-03-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/5/1/3 |
| _version_ | 1811267219741474816 |
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| author | Gronwald Jacek |
| author_facet | Gronwald Jacek |
| author_sort | Gronwald Jacek |
| collection | DOAJ |
| description | <p>Abstract</p> <p>This work consists of six parts based on seven manuscripts dealing with some aspects of genetic counselling for <it>BRCA1 </it>mutation carriers. It was demonstrated that the risk of breast and ovarian cancer in first-degree relatives of <it>BRCA1 </it>mutation carriers depends on the type of mutation and is higher in the younger generation. It was also shown that risk of breast cancer, but not of ovarian cancer, is related to cancer type of the proband. These factors should be taken into account when assessing risk of breast and ovarian cancer in relatives of <it>BRCA1 </it>mutation carriers. It was observed that longer breast-feeding, physical activities delaying menarche, preventive oophorectomy, administration of tamoxifen to patients with intact genital tract, and use of contraceptives reduce the risk of breast and ovarian cancer. All these possibilities should be presented to <it>BRCA1 </it>mutation carriers within the framework of cancer risk reduction options. It was also observed that there may be some preference in transmission of the mutant allele to female offspring of <it>BRCA1 </it>founder mutation carriers. Environmental factors appear also to interfere with transmission. The male to female ratio in offspring of <it>BRCA1 </it>mutation carriers is the same as for the general population. As for the consequences of simplified two-stage genetic counselling, the first psychological reaction of a female to the fact that she is a carrier of the <it>BRCA1 </it>mutation is negative. However, understanding that the risk of cancer is high persuades the woman to embrace preventive options. 98% of <it>BRCA1 </it>mutation carriers disclosed during population screening initiated and promoted by the media are convinced of the value of genetic testing. Simplified two-stage genetic counselling appears to be a useful approach promoting increased turnout for <it>BRCA1 </it>mutation testing.</p> |
| first_indexed | 2024-04-12T20:57:27Z |
| format | Article |
| id | doaj.art-dcc50d1fb7b24cd0ba15990ead7b4973 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-12T20:57:27Z |
| publishDate | 2007-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-dcc50d1fb7b24cd0ba15990ead7b49732022-12-22T03:16:56ZengBMCHereditary Cancer in Clinical Practice1897-42872007-03-015131610.1186/1897-4287-5-1-3Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriersGronwald Jacek<p>Abstract</p> <p>This work consists of six parts based on seven manuscripts dealing with some aspects of genetic counselling for <it>BRCA1 </it>mutation carriers. It was demonstrated that the risk of breast and ovarian cancer in first-degree relatives of <it>BRCA1 </it>mutation carriers depends on the type of mutation and is higher in the younger generation. It was also shown that risk of breast cancer, but not of ovarian cancer, is related to cancer type of the proband. These factors should be taken into account when assessing risk of breast and ovarian cancer in relatives of <it>BRCA1 </it>mutation carriers. It was observed that longer breast-feeding, physical activities delaying menarche, preventive oophorectomy, administration of tamoxifen to patients with intact genital tract, and use of contraceptives reduce the risk of breast and ovarian cancer. All these possibilities should be presented to <it>BRCA1 </it>mutation carriers within the framework of cancer risk reduction options. It was also observed that there may be some preference in transmission of the mutant allele to female offspring of <it>BRCA1 </it>founder mutation carriers. Environmental factors appear also to interfere with transmission. The male to female ratio in offspring of <it>BRCA1 </it>mutation carriers is the same as for the general population. As for the consequences of simplified two-stage genetic counselling, the first psychological reaction of a female to the fact that she is a carrier of the <it>BRCA1 </it>mutation is negative. However, understanding that the risk of cancer is high persuades the woman to embrace preventive options. 98% of <it>BRCA1 </it>mutation carriers disclosed during population screening initiated and promoted by the media are convinced of the value of genetic testing. Simplified two-stage genetic counselling appears to be a useful approach promoting increased turnout for <it>BRCA1 </it>mutation testing.</p>http://www.hccpjournal.com/content/5/1/3<it>BRCA1</it>breast cancerovarian cancerrisk factors |
| spellingShingle | Gronwald Jacek Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers Hereditary Cancer in Clinical Practice <it>BRCA1</it> breast cancer ovarian cancer risk factors |
| title | Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers |
| title_full | Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers |
| title_fullStr | Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers |
| title_full_unstemmed | Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers |
| title_short | Selected aspects of genetic counselling for <it>BRCA1 </it>mutation carriers |
| title_sort | selected aspects of genetic counselling for it brca1 it mutation carriers |
| topic | <it>BRCA1</it> breast cancer ovarian cancer risk factors |
| url | http://www.hccpjournal.com/content/5/1/3 |
| work_keys_str_mv | AT gronwaldjacek selectedaspectsofgeneticcounsellingforitbrca1itmutationcarriers |