Surgery for BRCA, TP53 and PALB2: a literature review

Introduction: The presence of a deleterious mutation, most commonly a BRCA mutation, has a tremendous impact on the management of breast cancer. We review the surgical management of BRCA mutation carriers, and two other potentially high-risk mutations, TP53 and PALB2. Methodology: A search was done...

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Main Authors: Song, Chin Vern, Teo, Soo Hwang, Mohd Taib, Nur Aishah, Yip, Cheng Har
Format: Article
Published: ecancer Global Foundation 2018
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Online Access:http://eprints.um.edu.my/20638/
https://doi.org/10.3332/ecancer.2018.863
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spelling my.um.eprints.206382019-03-11T04:18:25Z http://eprints.um.edu.my/20638/ Surgery for BRCA, TP53 and PALB2: a literature review Song, Chin Vern Teo, Soo Hwang Mohd Taib, Nur Aishah Yip, Cheng Har R Medicine Introduction: The presence of a deleterious mutation, most commonly a BRCA mutation, has a tremendous impact on the management of breast cancer. We review the surgical management of BRCA mutation carriers, and two other potentially high-risk mutations, TP53 and PALB2. Methodology: A search was done on PubMed, limited to reviews and the English language only. The search terms used were 'BRCA' or 'PALB2' or 'TP53' and 'surgery'. Fifteen articles were identified by searching and one article was obtained from other sources. Results: Breast-conserving surgery has equivalent survival, but may have an increased risk of local recurrence, compared to mastectomy among BRCA mutation carriers. Contralateral prophylactic mastectomy may not improve overall survival, despite reducing the risk of developing contralateral breast cancer. The use of preoperative genetic testing allows patients to have combined curative and prophylactic surgery. However, preoperative genetic testing may influence patients to make rash decisions. In healthy BRCA mutation carriers, bilateral prophylactic mastectomy is done to prevent breast cancer from occurring. Bilateral prophylactic mastectomy is highly effective in reducing the risk of breast cancer in healthy BRCA mutation-positive women and may have a survival benefit. Prophylactic oophorectomy reduces the risk of ovarian cancer, but may not have an effect on the risk of breast cancer. There is a lack of studies on surgery for non-BRCA mutations. TP53 and PALB2 are potentially high-risk mutations for breast cancer, which may justify the use of prophylactic surgery. Advice should be given on a case-by-case basis. Conclusion: A comprehensive approach is needed to provide optimum treatment for breast cancer patients with deleterious mutations. ecancer Global Foundation 2018 Article PeerReviewed Song, Chin Vern and Teo, Soo Hwang and Mohd Taib, Nur Aishah and Yip, Cheng Har (2018) Surgery for BRCA, TP53 and PALB2: a literature review. ecancermedicalscience, 12. p. 863. ISSN 1754-6605 https://doi.org/10.3332/ecancer.2018.863 doi:10.3332/ecancer.2018.863
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
topic R Medicine
spellingShingle R Medicine
Song, Chin Vern
Teo, Soo Hwang
Mohd Taib, Nur Aishah
Yip, Cheng Har
Surgery for BRCA, TP53 and PALB2: a literature review
description Introduction: The presence of a deleterious mutation, most commonly a BRCA mutation, has a tremendous impact on the management of breast cancer. We review the surgical management of BRCA mutation carriers, and two other potentially high-risk mutations, TP53 and PALB2. Methodology: A search was done on PubMed, limited to reviews and the English language only. The search terms used were 'BRCA' or 'PALB2' or 'TP53' and 'surgery'. Fifteen articles were identified by searching and one article was obtained from other sources. Results: Breast-conserving surgery has equivalent survival, but may have an increased risk of local recurrence, compared to mastectomy among BRCA mutation carriers. Contralateral prophylactic mastectomy may not improve overall survival, despite reducing the risk of developing contralateral breast cancer. The use of preoperative genetic testing allows patients to have combined curative and prophylactic surgery. However, preoperative genetic testing may influence patients to make rash decisions. In healthy BRCA mutation carriers, bilateral prophylactic mastectomy is done to prevent breast cancer from occurring. Bilateral prophylactic mastectomy is highly effective in reducing the risk of breast cancer in healthy BRCA mutation-positive women and may have a survival benefit. Prophylactic oophorectomy reduces the risk of ovarian cancer, but may not have an effect on the risk of breast cancer. There is a lack of studies on surgery for non-BRCA mutations. TP53 and PALB2 are potentially high-risk mutations for breast cancer, which may justify the use of prophylactic surgery. Advice should be given on a case-by-case basis. Conclusion: A comprehensive approach is needed to provide optimum treatment for breast cancer patients with deleterious mutations.
format Article
author Song, Chin Vern
Teo, Soo Hwang
Mohd Taib, Nur Aishah
Yip, Cheng Har
author_facet Song, Chin Vern
Teo, Soo Hwang
Mohd Taib, Nur Aishah
Yip, Cheng Har
author_sort Song, Chin Vern
title Surgery for BRCA, TP53 and PALB2: a literature review
title_short Surgery for BRCA, TP53 and PALB2: a literature review
title_full Surgery for BRCA, TP53 and PALB2: a literature review
title_fullStr Surgery for BRCA, TP53 and PALB2: a literature review
title_full_unstemmed Surgery for BRCA, TP53 and PALB2: a literature review
title_sort surgery for brca, tp53 and palb2: a literature review
publisher ecancer Global Foundation
publishDate 2018
url http://eprints.um.edu.my/20638/
https://doi.org/10.3332/ecancer.2018.863
_version_ 1643691336444936192
score 13.160551