The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report |
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| Authors: | Z. DAMAYANTI,A.B. ALI&dagger ,P.T.C. IAU&Dagger ,A. ILANCHERAN,& J.H. SNG&dagger |
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| Affiliation: | Department of Obstetrics &Gynecology, National University Hospital, Singapore;;Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;;and Department of Surgery, National University Hospital, Singapore |
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| Abstract: | Abstract. Damayanti Z, Ali AB, Iau PTC, Ilancheran A, Sng JH. The founder mutation BRCA1 c.2845insA identified in a fallopian tube cancer patient: a case report. Int J Gynecol Cancer 2006; 16(Suppl. 1): 362–365.
Fallopian tube carcinoma is a very rare tumor, comprising less than 1% of all gynecologic cancers and found primarily in postmenopausal women. With the disease being so uncommon, little is known about its causes and/or risk factors, and treatment approaches have been taken from experiences with ovarian cancer. We describe a case of a 42-year-old woman with fallopian tube cancer in which the founder mutation BRCA1 c.2845insA was detected by mutational analysis. This same mutation was subsequently detected in four unaffected members of her family following genetic counseling. We report an association between this founder mutation and fallopian tube cancer as part of the hereditary breast cancer syndrome in an Asian population. A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed. |
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| Keywords: | BRCA1 fallopian tube carcinoma founder mutation surgical prophylaxis |
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