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Fig. 1 | Breast Cancer Research

Fig. 1

From: Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Fig. 1

A Pedigree of a lung cancer patient F1 III:1 presenting with a BRCA1 c.2475delC frameshift variant detected by Sanger sequencing (B) and an exon 20 duplication (Ex20dup) in trans identified by two different MLPA test kits (C). Pedigree of a breast cancer patient F2 IV:2 (D) presenting with BRCA1 Ex20dup as detected by two MLPA kits (E). Probands in pedigrees (F1 III:1 and F2 IV:2) are marked by arrows. Variants detected in family members are indicated below the symbols of the tested individuals. If available, the patient age at disease onset in years is indicated

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Breast Cancer Research

ISSN: 1465-542X

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