Article

Identification of the best index case significantly improves mutation detection rates in families with hereditary breast and ovarian cancer

2019-01-23

Abstract excerpt

To date, a disease-causing mutation can be found in 15-30% of families with hereditary breast and ovarian cancer (HBOC) and it is believed that more than half of the cases still remain unsolved. Usually it is intended to perform genetic analyses in the family member with the most severe phenotype, which, however, may not always be possible. Moreover, no standard criteria have been established to define the person...

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Literature Corpus work: 6bdb06c4-5d87-585f-b1ce-77b3f510c242
DOI: 10.1101/527168

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