The founder mutationBRCA1c.2845insA identified in a fallopian tube cancer patient: a case report

Abstract

Abstract. Damayanti Z, Ali AB, Iau PTC, Ilancheran A, Sng JH. The founder mutation BRCA1c.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 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.

BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer

“…In these studies, we identified the BRCA1c.2845insA mutation in 6/62 (9.7%) unrelated early-onset breast/ovarian cases and 1 fallopian tube cancer patient. Haplotype analysis performed at 3 BRCA1 intragenic polymorphic markers (D17S855, D17S1322 and D17S1323) indicated a shared haplotype, 142-127-159, in all BRCA1 c.2845insA mutation carriers [11,13].…”