Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast-Reference-Cited by-同舟云学术

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

Published:2021-12-10 Issue:35 Volume:39 Page:3918-3926
ISSN:0732-183X
Container-title:Journal of Clinical Oncology
language:en
Short-container-title:JCO

Author:

Yadav Siddhartha¹^ORCID,Hu Chunling¹^ORCID,Nathanson Katherine L.²³^ORCID,Weitzel Jeffrey N.⁴^ORCID,Goldgar David E.⁵^ORCID,Kraft Peter⁶^ORCID,Gnanaolivu Rohan D.¹,Na Jie¹^ORCID,Huang Hongyan⁶,Boddicker Nicholas J.¹^ORCID,Larson Nicole¹,Gao Chi⁶^ORCID,Yao Song⁷^ORCID,Weinberg Clarice⁸,Vachon Celine M.¹^ORCID,Trentham-Dietz Amy⁹^ORCID,Taylor Jack A.⁸^ORCID,Sandler Dale R.⁸^ORCID,Patel Alpa¹⁰,Palmer Julie R.¹¹^ORCID,Olson Janet E.¹,Neuhausen Susan¹²^ORCID,Martinez Elena¹³^ORCID,Lindstrom Sara¹⁴,Lacey James V.¹²,Kurian Allison W.¹⁵^ORCID,John Esther M.¹⁵^ORCID,Haiman Christopher¹⁶,Bernstein Leslie¹²^ORCID,Auer Paul W.¹⁷,Anton-Culver Hoda¹⁸,Ambrosone Christine B.⁷^ORCID,Karam Rachid¹⁹^ORCID,Chao Elizabeth¹⁹,Yussuf Amal¹⁹^ORCID,Pesaran Tina¹⁹^ORCID,Dolinsky Jill S.¹⁹^ORCID,Hart Steven N.¹^ORCID,LaDuca Holly¹⁹^ORCID,Polley Eric C.¹^ORCID,Domchek Susan M.²³^ORCID,Couch Fergus J.¹^ORCID

Affiliation:

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

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 ( ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, and TP53) were compared between women with ILC and unaffected female controls and between women with ILC and infiltrating ductal carcinoma (IDC). 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, CDH1 and BRCA2 PVs were associated with high risks of ILC (odds ratio [OR] > 4) and CHEK2, ATM, and PALB2 PVs were associated with moderate (OR = 2-4) risks. BRCA1 PVs and CHEK2 p.Ile157Thr were not associated with clinically relevant risks (OR < 2) of ILC. Compared with IDC, CDH1 PVs were > 10-fold enriched, whereas PVs in BRCA1 were substantially reduced in ILC. CONCLUSION The study establishes that PVs in ATM, BRCA2, CDH1, CHEK2, and PALB2 are associated with an increased risk of ILC, whereas BRCA1 PVs are not. The similar overall PV frequencies for ILC and IDC suggest that cancer histology should not influence the decision to proceed with genetic testing. Similar to IDC, multigene panel testing may be appropriate for women with ILC, but CDH1 should be specifically discussed because of low prevalence and gastric cancer risk.

Publisher

American Society of Clinical Oncology (ASCO)

Subject

Cancer Research,Oncology

Link

https://ascopubs.org/doi/pdfdirect/10.1200/JCO.21.00640

Reference44 articles.

1. Trends in Incidence Rates of Invasive Lobular and Ductal Breast Carcinoma

2. Lobular breast carcinoma and its variants

3. Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future

4. Clinical spectrum and pleiotropic nature of CDH1 germline mutations

5. Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing;Annals of Oncology;2024-10

2. Triple-Negative Pleomorphic Lobular Carcinoma in a BRCA1 Mutation Carrier: A Case of Complete Pathological Response;American Journal of Case Reports;2024-07-04

3. Invasive lobular breast cancer: Focus on prevention, genetics, diagnosis, and treatment;Seminars in Oncology;2024-06

4. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2;Genetics in Medicine;2024-05

5. CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype;JAMA Network Open;2024-04-23