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. Author manuscript; available in PMC: 2022 Jan 3.
Published in final edited form as: Cancer Res. 2019 Dec 10;80(4):857–867. doi: 10.1158/0008-5472.CAN-19-1991

Figure 1. Graphical summary of BRIP1 rare (MAF<0.0005) and novel missense variants identified in ovarian and early-onset breast cancer patients.

Figure 1.

The ATPase reduced, helicase deficient P47A (helicase domain I) was seen in both cohorts. Helicase deficient, dominant negative mutant A349P (Fe-S domain, 276-362aa) was identified in a single ovarian cancer patient. Rare alleles in the C-terminal region of the helicase domain (Q540L, I691L, Q740H and A745T) identified in both cohorts are indicated with black arrowheads. Mutation plot generated using cBioPortal MutationMapper tool. Helicase domain motifs: I (39-57); Ia (245-258); II (385-398); III (610-624); IV (689-710); V (748-775); VI (819-836). BRCA1 binding domain: 888-1063aa.