Risk of Late-Onset Breast Cancer in Genetically Predisposed Women-Reference-Cited by-同舟云学术

Risk of Late-Onset Breast Cancer in Genetically Predisposed Women

Published:2021-11-01 Issue:31 Volume:39 Page:3430-3440
ISSN:0732-183X
Container-title:Journal of Clinical Oncology
language:en
Short-container-title:JCO

Author:

Boddicker Nicholas J.¹^ORCID,Hu Chunling¹^ORCID,Weitzel Jeffrey N.²^ORCID,Kraft Peter³^ORCID,Nathanson Katherine L.⁴⁵^ORCID,Goldgar David E.⁶^ORCID,Na Jie¹^ORCID,Huang Hongyan³,Gnanaolivu Rohan D.¹,Larson Nicole¹,Yussuf Amal⁷^ORCID,Yao Song⁸^ORCID,Vachon Celine M.¹^ORCID,Trentham-Dietz Amy⁹^ORCID,Teras Lauren¹⁰^ORCID,Taylor Jack A.¹¹^ORCID,Scott Christopher E.¹,Sandler Dale P.¹¹^ORCID,Pesaran Tina⁷^ORCID,Patel Alpa V.¹⁰,Palmer Julie R.¹²^ORCID,Ong Irene M.⁹^ORCID,Olson Janet E.¹,O'Brien Katie¹¹,Neuhausen Susan²^ORCID,Martinez Elena²^ORCID,Ma Huiyan²,Lindstrom Sara¹³,Le Marchand Loic¹⁴,Kooperberg Charles¹⁵,Karam Rachid⁷^ORCID,Hunter David J.¹⁶,Hodge James M.¹⁰^ORCID,Haiman Christopher¹⁷,Gaudet Mia M.¹⁰^ORCID,Gao Chi³^ORCID,LaDuca Holly⁷^ORCID,Lacey James V.²,Dolinsky Jill S.⁷^ORCID,Chao Elizabeth⁷,Carter Brian D.¹⁰,Burnside Elizabeth S.⁹^ORCID,Bertrand Kimberly A.¹²^ORCID,Bernstein Leslie²^ORCID,Auer Paul W.¹⁸,Ambrosone Christine⁸^ORCID,Yadav Siddhartha¹^ORCID,Hart Steven N.¹^ORCID,Polley Eric C.¹^ORCID,Domchek Susan M.⁴⁵^ORCID,Couch Fergus J.¹^ORCID

Affiliation:

1. Mayo Clinic, Rochester, MN

2. Beckman Research Institute of City of Hope, Duarte, CA

3. Harvard University T.H. Chan School of Public Health, Boston, MA

4. Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

5. Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

6. University of Utah, Salt Lake City, UT

7. Ambry Genetics, Aliso Viejo, CA

8. Roswell Park Comprehensive Cancer Center, Buffalo, NY

9. University of Wisconsin-Madison, Madison, WI

10. Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA

11. NIEHS, Durham, NC

12. Slone Epidemiology Center at Boston University, Boston, MA

13. Department of Epidemiology, University of Washington, Seattle, WA

14. Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI

15. Fred Hutchinson Cancer Research Center, Seattle, WA

16. University of Oxford, Oxford, United Kingdom

17. Keck School of Medicine, University of Southern California, Los Angeles, CA

18. UWM Joseph J. Zilber School of Public Health, Milwaukee, WI

Abstract

PURPOSE The prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women in the general population over age 65 years is not well-defined. However, testing guidelines suggest that women diagnosed with breast cancer over age 65 years might have < 2.5% likelihood of a PV in a high-penetrance gene. This study aimed to establish the frequency of PVs and remaining risks of breast cancer for each gene in women over age 65 years. METHODS A total of 26,707 women over age 65 years from population-based studies (51.5% with breast cancer and 48.5% unaffected) were tested for PVs in germline predisposition gene. Frequencies of PVs and associations between PVs in each gene and breast cancer were assessed, and remaining lifetime breast cancer risks were estimated for non-Hispanic White women with PVs. RESULTS The frequency of PVs in predisposition genes was 3.18% for women with breast cancer and 1.48% for unaffected women over age 65 years. PVs in BRCA1, BRCA2, and PALB2 were found in 3.42% of women diagnosed with estrogen receptor (ER)–negative, 1.0% with ER-positive, and 3.01% with triple-negative breast cancer. Frequencies of PVs were lower among women with no first-degree relatives with breast cancer. PVs in CHEK2, PALB2, BRCA2, and BRCA1 were associated with increased risks (odds ratio = 2.9-4.0) of breast cancer. Remaining lifetime risks of breast cancer were ≥ 15% for those with PVs in BRCA1, BRCA2, and PALB2. CONCLUSION This study suggests that all women diagnosed with triple-negative breast cancer or ER-negative breast cancer should receive genetic testing and that women over age 65 years with BRCA1 and BRCA2 PVs and perhaps with PALB2 and CHEK2 PVs should be considered for magnetic resonance imaging screening.

Publisher

American Society of Clinical Oncology (ASCO)

Subject

Cancer Research,Oncology

Link

https://ascopubs.org/doi/pdfdirect/10.1200/JCO.21.00531

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