Article
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Nature genetics - 1 May 2014
Witkowski Leora, Carrot-Zhang Jian, Albrecht Steffen, Fahiminiya Somayyeh, Hamel Nancy, Tomiak Eva, Grynspan David, Saloustros Emmanouil, Nadaf Javad, Rivera Barbara, Gilpin Catherine, Castellsagué Ester, Silva-Smith Rachel, Plourde François, Wu Mona, Saskin Avi, Arseneault Madeleine, Karabakhtsian Rouzan G, Reilly Elizabeth A, Ueland Frederick R, Margiolaki Anna, Pavlakis Kitty, Castellino Sharon M, Lamovec Janez, Mackay Helen J, Roth Lawrence M, Ulbright Thomas M, Bender Tracey A, Georgoulias Vassilis, Longy Michel, Berchuck Andrew, Tischkowitz Marc, Nagel Inga, Siebert Reiner, Stewart Colin J R, Arseneau Jocelyne, McCluggage W Glenn, Clarke Blaise A, Riazalhosseini Yasser, Hasselblatt Martin, Majewski Jacek, Foulkes William D
Abstract excerpt
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline...
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