Skip to content
My WebMD Sign In, Sign Up

Breast Cancer Health Center

Font Size

Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Changes to This Summary (03 / 04 / 2013)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.


Recommended Related to Breast Cancer

Breast Cancer Recurrence: What You Should Know

Elyse Caplan remembers it well, that first conversation with her oncologist. She had just been diagnosed with stage IIB breast cancer, and they were discussing the game plan for treatment. If her oncologist mentioned "recurrence" -- the possibility that her cancer could return -- it was lost on her, she says. "You sit through an hour-long appointment and take notes, but when the doctor says one thing that's very upsetting, you just freeze," she tells WebMD. "You're thinking, 'I'm going to...

Read the Breast Cancer Recurrence: What You Should Know article > >

Updated statistics with estimated new cases and deaths of breast cancer and ovarian cancer for 2013 (cited American Cancer Society as reference 1).

Added Figure 1, Classic BRCA1 Pedigree.

Added Figure 2, Classic BRCA2 Pedigree.

Revised text to state that studies examining the impact of radiation exposure, including, but not limited to, mammography, in BRCA1 and BRCA2 mutation carriers have had conflicting results (cited Goldfrank et al., Gronwald et al., and Pijpe et al. as references 44, 45, and 46, respectively). Also added text to state that a large European study showed a dose-response relationship of increased risk with total radiation exposure, but this was primarily driven by nonmammographic radiation exposure before age 20 years.

High-Penetrance Breast and/or Ovarian Cancer Susceptibility Genes

Added text to state that the inclusion of breast tumor markers, such as estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, has been shown to improve the performance of BRCAPRO and the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (cited Biswas et al., Mavaddat et al., and Tai et al. as references 104, 105, and 106, respectively).

Added Liu et al. as reference 252.

Added text to state that two studies failed to find convincing evidence of an association between ionizing radiation exposure and breast cancer risk in BRCA1 and BRCA2 mutation carriers (cited Narod et al. and Goldfrank et al. as references 282 and 283, respectively). Also added text about two large international studies that found evidence of an increased risk due to chest x-rays (cited Andrieu et al. as reference 284) or estimates of total exposure to diagnostic radiation (cited Pijpe et al. as reference 285).

Added text about a study that suggested that the most cost-effective screening strategy in BRCA1 and BRCA2 mutation carriers may be annual magnetic resonance imaging (MRI) beginning at age 25 years, with alternating MRI and digital mammography beginning at age 30 years (cited Lowry et al. as reference 287); the National Comprehensive Cancer Network currently recommends annual mammography and MRI screening beginning at age 25 years.

Added text about the timing of mammography and MRI and described a cost-effectiveness study that suggested annual MRI beginning at age 25 years, with alternating MRI and digital mammography beginning at age 30 years in BRCA1 and BRCA2 mutation carriers.

Low- and Moderate-Penetrance Genes Associated With Breast and/or Ovarian Cancer

Added text to state that among 559 cases with contralateral breast cancer and 565 matched controls with unilateral breast cancer, pathogenic (truncating) PALB2 mutations were identified in 0.9% of cases and in none of the controls (cited Tischkowitz et al. as reference 71).

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ NCI's Comprehensive Cancer Database pages.


WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
Next Article:

Today on WebMD

Breast Cancer Overview
From self-exams and biopsies to reconstruction, we’ve got you covered.
Dealing with breast cancer
Get answers to your questions.
woman having mammogram
Experts don’t agree on all fronts, but you can be your own advocate.
woman undergoing breast cancer test
Many women worry. But the truth? Most abnormalities aren’t breast cancer.
Breast Cancer Treatments Improving
Resolved To Quit Smoking
Woman getting mammogram
Screening Tests for Women
ovarian cancer overview slideshow
serious woman
what is your cancer risk
10 Ways to Revitalize Slideshow