Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report
Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma. We analyzed expressions of 84 genes related with DNA Repair by Real...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2017-10-01
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| Series: | European Journal of Breast Health |
| Subjects: | |
| Online Access: |
http://www.eurjbreasthealth.com/archives/archive-detail/article-preview/bilateral-breast-cancer-with-neurofibromatosis-typ/42085
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| _version_ | 1797916157363093504 |
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| author | Duygu Dursun Safiye Aktaş Zekiye Altun Nur Olgun |
| author_facet | Duygu Dursun Safiye Aktaş Zekiye Altun Nur Olgun |
| author_sort | Duygu Dursun |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma. We analyzed expressions of 84 genes related with DNA Repair by Real Time PCR (AB Applied Biosystem 7000 Sequence Detection System;
Thermo Fisher, Foster City, CA, USA). We also performed NF1 sequencing analyzing in exon 9 of the NF1 gene for mother. In Real Time PCR analysis of DNA Repair Genes, expression chances were predominant both in mother and daughter compared with control group. When the mother and daughter’s expression profiles were compared, similar DNA repair array gene expression profiles were observed and the expression of DDB2, MGMT, MLH1, POLB UNG, XPA genes were high in both mother and daughter.
In sequencing analysis, we obtained a mutation in c.1246 C>T. This mutation is reported to be common in NF1 cases with breast carcinoma. Our results indicate that the daughter with NF1 is probably prone to have malignancy in her future life. She should be carefully followed up for early diagnosis of a probable malignancy. |
| first_indexed | 2024-04-10T12:52:49Z |
| format | Article |
| id | doaj.art-71f3e56fb1d44bed97a495490b4d4d06 |
| institution | Directory Open Access Journal |
| issn | 2587-0831 |
| language | English |
| last_indexed | 2024-04-10T12:52:49Z |
| publishDate | 2017-10-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | European Journal of Breast Health |
| spelling | doaj.art-71f3e56fb1d44bed97a495490b4d4d062023-02-15T16:13:39ZengGalenos Publishing HouseEuropean Journal of Breast Health2587-08312017-10-0113421321510.5152/ejbh.2017.310513049054Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case ReportDuygu Dursun0Safiye Aktaş1Zekiye Altun2Nur Olgun3 Institute of Oncology, Dokuz Eylül University, İzmir, Turkey Institute of Oncology, Dokuz Eylül University, İzmir, Turkey Institute of Oncology, Dokuz Eylül University, İzmir, Turkey Institute of Oncology, Dokuz Eylül University, İzmir, Turkey Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma. We analyzed expressions of 84 genes related with DNA Repair by Real Time PCR (AB Applied Biosystem 7000 Sequence Detection System; Thermo Fisher, Foster City, CA, USA). We also performed NF1 sequencing analyzing in exon 9 of the NF1 gene for mother. In Real Time PCR analysis of DNA Repair Genes, expression chances were predominant both in mother and daughter compared with control group. When the mother and daughter’s expression profiles were compared, similar DNA repair array gene expression profiles were observed and the expression of DDB2, MGMT, MLH1, POLB UNG, XPA genes were high in both mother and daughter. In sequencing analysis, we obtained a mutation in c.1246 C>T. This mutation is reported to be common in NF1 cases with breast carcinoma. Our results indicate that the daughter with NF1 is probably prone to have malignancy in her future life. She should be carefully followed up for early diagnosis of a probable malignancy. http://www.eurjbreasthealth.com/archives/archive-detail/article-preview/bilateral-breast-cancer-with-neurofibromatosis-typ/42085 neurofibromatosis type 1breast cancerbilateral |
| spellingShingle | Duygu Dursun Safiye Aktaş Zekiye Altun Nur Olgun Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report European Journal of Breast Health neurofibromatosis type 1 breast cancer bilateral |
| title | Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report |
| title_full | Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report |
| title_fullStr | Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report |
| title_full_unstemmed | Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report |
| title_short | Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report |
| title_sort | bilateral breast cancer with neurofibromatosis type 1 patient case report |
| topic | neurofibromatosis type 1 breast cancer bilateral |
| url |
http://www.eurjbreasthealth.com/archives/archive-detail/article-preview/bilateral-breast-cancer-with-neurofibromatosis-typ/42085
|
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