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Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online

, : Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online. Human Mutation 28(5): 525-526

Misdiagnosis of a germline mutation associated with an inherited disease syndrome can have serious implications for the clinical management of patients. A false negative diagnosis (mutation missed by genetic screening) limits decision making about intervention strategies within families. More serious is the consequence of a false positive diagnosis (genetic test suggesting a mutation is present when it is not). This could lead to an individual, falsely diagnosed as a mutation carrier, undergoing unnecessary clinical intervention, possibly involving risk-reducing surgery. As part of screening 283 ovarian cancer families for BRCA1 mutations, we used two different methods (mutation specific PCR and multiplex ligation-dependent probe amplification) to screen for a known rearrangement mutation L78833.1:g.44369_50449dup (ins6kbEx13). We found false positive and false negative results in several families. We then tested 61 known carriers or non-carriers from an epidemiological study of BRCA1 and BRCA2 mutation carriers (the EMBRACE study). These data highlight the need for caution when interpreting analyses of the ins6kbEx13 mutation and similar mutations, where characterising the exact sequence alteration for a deleterious mutation is not a part of the routine genetic test.


PMID: 17397054

DOI: 10.1002/humu.9493

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Voinikov, V.K.; Kolesnichenko, A.V.; Pobezhimova, T.P.; Varakina, N.N., 1998: The first and the sixth chromosomes of soft winter wheat D-genome control the synthesis of 310-kDa cold shock protein. The effects of 1D and 6D chromosomes on the concentration of 31-KDa stress protein were studied in strains of the winter wheat Triticum aestivum cultivar Bezostaya with intercultivar substitution of chromosomes from the highly frost resistant whea...

Schepker, R., 2011: Preventive detention and adolescents - an objection!. Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie 38(6): 389-391

Geserick G.; Bundschuh G.; Rose M., 1968: On the technique of the determination of transferrin types. Aerztliche Laboratorium 14(12): 507-512

Hill S.A.; Walpole B.J., 1990: National and local spread of barley yellow mosaic virus in the uk. Barley yellow mosaic virus was first reported in the United Kingdom in 1980. Since then cumulative records of reports of disease, confirmed at the laboratory of the Agricultural Development and Advisory Service of the Ministry of Agriculture, Fish...

Anglada, J.M.; Olivella, S.; Solé, A., 2015: Atmospheric formation of the NO3 radical from gas-phase reaction of HNO3 acid with the NH2 radical: proton-coupled electron-transfer versus hydrogen atom transfer mechanisms. The gas-phase reaction of nitric acid with the amidogen radical under atmospheric conditions has been investigated using quantum mechanical (QCISD and CCSD(T)) and DFT (B3LYP, BH&HLYP, M05, M05-2X, and M06-2X) calculations with the 6-311+G(2df...

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Yamakawa, H.; Akiyama, H.; Endo, Y.; Miyatake, K.; Sakata, K.; Sakai, S.; Toyoda, M.; Urisu, A., 2007: Specific detection of wheat residues in processed foods by polymerase chain reaction. A sensitive qualitative detection method for wheat in foods using polymerase chain reaction. (PCR) was developed. Trace amounts of wheat in commercial food products could be qualitatively detected by this method. The sensitivity of the proposed PC...

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