Family history of ovarian cancer

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2 studies · 1 recommendation

Last updated: February 25, 2026

Family history of ovarian cancer – Ovarian Cancer

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Two or more affected first-degree relatives nearly doubles ovarian cancer risk requiring specialist evaluation

Across 2 studies including a pooled cohort of 1.3 million women with 4,584 ovarian cancer cases, family history of ovarian cancer emerged as a significant risk modifier. Women with a family history faced a nearly twofold increased risk (HR: 1.94; 95% CI 1.47–2.55), particularly for less aggressive tumors (phet = 0.02). Clinical guidelines recommend that women with 2 or more first-degree relatives with ovarian cancer pursue individualized specialist evaluation and careful discussion of screening risks and benefits (SOR=C). Routine screening via CA-125, transvaginal ultrasound, or pelvic examination is not recommended for average-risk women or those with only one affected relative (SOR=B). The familial risk pattern preferentially influences less lethal tumor development, making early specialist referral—not population-based screening—the appropriate clinical response.

Evidence

Ovarian cancer risk factors by tumor aggressiveness: an analysis from the Ovarian Cancer Cohort Consortium

Authors: Adami, H-O, Arslan, AA, Bernstein, L, Black, A, Brinton, LA, Buring, J, Clendenen, TV, Fortner, RT, Fournier, A, Fraser, G, Gapstur, SM, Gaudet, MM, Giles, GG, Gram, IT, Hartge, P, Hoffman-Bolton, J, Idahl, A, Kaaks, R, Kirsh, VA, Knutsen, S, Koh, W-P, Lacey, JV, Lee, I-M, Lundin, E, Merritt, MA, Milne, RL, Onland-Moret, NC, Patel, AV, Peters, U, Poole, EM, Poynter, JN, Rinaldi, S, Robien, K, Rohan, T, Schairer, C, Schouten, LJ, Setiawan, VW, Sánchez, M-J, Tjonneland, A, Townsend, MK, Trabert, B, Travis, RC, Trichopoulou, A, Tworoger, SS, Van den Brandt, PA, Vineis, P, Visvanathan, K, Weiderpass, E, Wentzensen, NA, White, E, Wilkens, L, Wolk, A, Yang, HP, Zeleniuch-Jacquotte, A

Published: November 5, 2018

In this pooled cohort of 1.3 million women with 4,584 ovarian cancer cases, family history of ovarian cancer was associated with a nearly twofold increased risk of less aggressive disease (HR: 1.94; 95% CI [1.47-2.55]). The heterogeneity across aggressiveness categories was statistically significant (phet =0.02). Less aggressive tumors were defined as those where patients survived 5 or more years after diagnosis (n=1,691). Family history showed a stronger association with less aggressive compared to highly aggressive disease, suggesting familial risk factors may preferentially influence less lethal tumor development.

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Should we screen for ovarian cancer?

Authors: Puglia, Kathleen, Wiseman, Pamela M.

Published: January 1, 2003

Clinical guideline with SOR=C recommends that women with 2 or more first-degree relatives with ovarian cancer engage in careful discussion of risks and benefits of screening, with referral to specialists as needed. For average-risk women or those with only 1 first-degree relative, screening via pelvic examination, CA-125, transvaginal ultrasound, or combinations is not recommended (SOR=B). The evidence was insufficient to recommend for or against screening in the high-risk group with multiple affected relatives, underscoring the need for individualized specialist evaluation rather than routine population-based screening.

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