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J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Siddhartha Yadav, Chunling Hu, Katherine L Nathanson, Jeffrey N Weitzel, David E Goldgar, Peter Kraft, Rohan D Gnanaolivu, Jie Na, Hongyan Huang, Nicholas J Boddicker, Nicole Larson, Chi Gao, Song Yao, Clarice Weinberg, Celine M Vachon, Amy Trentham-Dietz, Jack A Taylor, Dale R Sandler, Alpa Patel, Julie R Palmer, Janet E Olson, Susan Neuhausen, Elena Martinez, Sara Lindstrom, James V Lacey, Allison W Kurian, Esther M John, Christopher Haiman, Leslie Bernstein, Paul W Auer, Hoda Anton-Culver, Christine B Ambrosone, Rachid Karam, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Jill S Dolinsky, Steven N Hart, Holly LaDuca, Eric C Polley, Susan M Domchek, Fergus J Couch

Affiliations

  1. Mayo Clinic, Rochester, MN.
  2. Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  3. Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  4. Latin American School of Oncology, Sierra Madre, CA.
  5. University of Utah, Salt Lake City, UT.
  6. Harvard University T.H. Chan School of Public Health, Boston, MA.
  7. Roswell Park Comprehensive Cancer Center, Buffalo, NY.
  8. NIEHS, Durham, NC.
  9. University of Wisconsin-Madison, Madison, WI.
  10. Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA.
  11. Slone Epidemiology Center, Boston University, Boston, MA.
  12. Beckman Research Institute of City of Hope, Duarte, CA.
  13. University of California, San Diego, CA.
  14. Fred Hutchinson Cancer Research Center, Seattle, WA.
  15. Stanford University School of Medicine, Stanford, CA.
  16. Keck School of Medicine, University of Southern California, Los Angeles, CA.
  17. UWM Joseph J. Zilber School of Public Health, Milwaukee, WI.
  18. University of California, Irvine, CA.
  19. Ambry Genetics Inc, Aliso Viejo, CA.

PMID: 34672684 PMCID: PMC8660003 DOI: 10.1200/JCO.21.00640

Abstract

PURPOSE: To determine the contribution of germline pathogenic variants (PVs) in hereditary cancer testing panel genes to invasive lobular carcinoma (ILC) of the breast.

MATERIALS AND METHODS: The study included 2,999 women with ILC from a population-based cohort and 3,796 women with ILC undergoing clinical multigene panel testing (clinical cohort). Frequencies of germline PVs in breast cancer predisposition genes (

RESULTS: The frequency of PVs in breast cancer predisposition genes among women with ILC was 6.5% in the clinical cohort and 5.2% in the population-based cohort. In case-control analysis,

CONCLUSION: The study establishes that PVs in

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