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Genetic risk score for ovarian cancer based on chromosomal-scale length variation



Twin studies indicate that a substantial fraction of ovarian cancers should be predictable from genetic testing. Genetic risk scores can stratify women into different classes of risk. Higher risk women can be treated or screened for ovarian cancer, which should reduce ovarian cancer death rates. However, current ovarian cancer genetic risk scores do not work that well. We developed a genetic risk score based on variations in the length of chromosomes.


We evaluated this genetic risk score using data collected by The Cancer Genome Atlas. We synthesized a dataset of 414 women who had ovarian serous carcinoma and 4225 women who had no form of ovarian cancer. We characterized each woman by 22 numbers, representing the length of each chromosome in their germ line DNA. We used a gradient boosting machine to build a classifier that can predict whether a woman had been diagnosed with ovarian cancer.


The genetic risk score based on chromosomal-scale length variation could stratify women such that the highest 20% had a 160x risk (95% confidence interval 50x-450x) compared to the lowest 20%. The genetic risk score we developed had an area under the curve of the receiver operating characteristic curve of 0.88 (95% confidence interval 0.86-0.91).


A genetic risk score based on chromosomal-scale length variation of germ line DNA provides an effective means of predicting whether or not a woman will develop ovarian cancer.

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