The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Z DamayantiJ H Sng

Abstract

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 BRCA1c.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.

References

Aug 15, 1988·International Journal of Cancer. Journal International Du Cancer·H P LeeK Shanmugaratnam
Jan 24, 1997·Cell·R ScullyD M Livingston
Dec 7, 2002·Gynecologic Oncology·Katherine LeeperPamela Paley
Nov 15, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Douglas A LevineJeff Boyd
Sep 3, 2004·Nature Reviews. Cancer·Steven A Narod, William D Foulkes

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