Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes

被引：6

作者：

Kurian, Allison W. ^{[1
,2
]}

Abrahamse, Paul ^{[3
,4
]}

Ward, Kevin C. ^{[5
]}

Hamilton, Ann S. ^{[6
]}

Deapen, Dennis ^{[6
]}

Berek, Jonathan S. ^{[7
]}

Hoang, Lily ^{[8
]}

Yussuf, Amal ^{[8
]}

Dolinsky, Jill ^{[8
]}

Brown, Krystal ^{[9
]}

Slavin, Thomas ^{[9
]}

Hofer, Timothy P. ^{[10
,11
]}

Katz, Steven J. ^{[10
,11
]}

机构：

[1] Stanford Univ, Dept Med & Epidemiol, Stanford, CA 94305 USA

[2] Stanford Univ, Dept Populat Hlth, Stanford, CA 94305 USA

[3] Univ Michigan, Sch Publ Hlth, Dept Hlth Management & Policy, Ann Arbor, MI 48109 USA

[4] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA

[5] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA USA

[6] Univ Southern Calif, Dept Prevent Med, Keck Sch Med, Los Angeles, CA USA

[7] Stanford Univ, Stanford Womens Canc Ctr, Dept Obstet & Gynecol, Div Gynecol Oncol, Stanford, CA USA

[8] Ambry Genet, Aliso Viejo, CA USA

[9] Myriad Genet, Salt Lake City, UT USA

[10] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

[11] Vet Affairs Ann Arbor Healthcare Syst, Ctr Clin Management Res, Ann Arbor, MI USA

来源：

JCO PRECISION ONCOLOGY | 2021年 / 5卷

基金：

美国国家卫生研究院;

关键词：

MUTATIONS;

D O I：

10.1200/PO.21.00261

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

PURPOSE Family cancer history is an important component of genetic testing guidelines that estimate which patients with breast cancer are most likely to carry a germline pathogenic variant (PV). However, we do not know whether more extensive family history is differentially associated with PVs in specific genes. METHODS All women diagnosed with breast cancer in 2013-2017 and reported to statewide SEER registries of Georgia and California were linked to clinical genetic testing results and family history from two laboratories. Family history was defined as strong (suggestive of PVs in high-penetrance genes such as BRCA1/2 or TP53, including male breast, ovarian, pancreatic, sarcoma, or multiple female breast cancers), moderate (any other cancer history), or none. Among established breast cancer susceptibility genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, and TP53), we evaluated PV prevalence according to family history extent and breast cancer subtype. We used a multivariable model to test for interaction between affected gene and family history extent for ATM, BRCA1/2, CHEK2, and PALB2. RESULTS A total of 34,865 women linked to genetic results. Higher PV prevalence with increasing family history extent (P < .001) was observed only with BRCA1 (3.04% with none, 3.22% with moderate, and 4.06% with strong history) and in triple-negative breast cancer with PALB2 (0.75% with none, 2.23% with moderate, and 2.63% with strong history). In a multivariable model adjusted for age and subtype, there was no interaction between family history extent and PV prevalence for any gene except PALB2 (P = .037). CONCLUSION Extent of family cancer history is not differentially associated with PVs across established breast cancer susceptibility genes and cannot be used to personalize genes selected for testing. (C) 2021 by American Society of Clinical Oncology

引用

页码：1853 / 1859

页数：7

共 19 条

[1] Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk [J].

Caswell-Jin, Jennifer L. ;

Gupta, Tanya ;

Hall, Evan ;

Petrovchich, Iva M. ;

Mills, Meredith A. ;

Kingham, Kerry E. ;

Koff, Rachel ;

Chun, Nicolette M. ;

Levonian, Peter ;

Lebensohn, Alexandra P. ;

Ford, James M. ;

Kurian, Allison W. .

GENETICS IN MEDICINE, 2018, 20 (02) :234-239

[2] Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021 [J].

Daly, Mary B. ;

Pal, Tuya ;

Berry, Michael P. ;

Buys, Saundra S. ;

Dickson, Patricia ;

Domchek, Susan M. ;

Elkhanany, Ahmed ;

Friedman, Susan ;

Goggins, Michael ;

Hutton, Mollie L. ;

Karlan, Beth Y. ;

Khan, Seema ;

Klein, Catherine ;

Kohlmann, Wendy ;

Kurian, Allison W. ;

Laronga, Christine ;

Litton, Jennifer K. ;

Mak, Julie S. ;

Menendez, Carolyn S. ;

Merajver, Sofia D. ;

Norquist, Barbara S. ;

Offit, Kenneth ;

Pederson, Holly J. ;

Reiser, Gwen ;

Senter-Jamieson, Leigha ;

Shannon, Kristen Mahoney ;

Shatsky, Rebecca ;

Visvanathan, Kala ;

Weitzel, Jeffrey N. ;

Wick, Myra J. ;

Wisinski, Kari B. ;

Yurgelun, Matthew B. ;

Darlow, Susan D. ;

Dwyer, Mary A. .

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2021, 19 (01) :77-102

[3]

Domchek SM, 2020, J CLIN ONCOL, V38

[4] Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women [J].

Dorling, Leila ;

Carvalho, Sara ;

Allen, Jamie ;

Gonzalez-Neira, Anna ;

Luccarini, Craig ;

Wahlstrom, Cecilia ;

Pooley, Karen A. ;

Parsons, Michael T. ;

Fortuno, Cristina ;

Wang, Qin ;

Bolla, Manjeet K. ;

Dennis, Joe ;

Keeman, Renske ;

Alonso, M. Rosario ;

Alvarez, Nuria ;

Herraez, Belen ;

Fernandez, Victoria ;

Nunez-Torres, Rocio ;

Osorio, Ana ;

Valcich, Jeanette ;

Li, Minerva ;

Torngren, Therese ;

Harrington, Patricia A. ;

Baynes, Caroline ;

Conroy, Don M. ;

Decker, Brennan ;

Fachal, Laura ;

Mavaddat, Nasim ;

Ahearn, Thomas ;

Aittomaki, Kristiina ;

Antonenkova, Natalia N. ;

Arnold, Norbert ;

Arveux, Patrick ;

Ausems, Margreet G. E. M. ;

Auvinen, Paivi ;

Becher, Heiko ;

Beckmann, Matthias W. ;

Behrens, Sabine ;

Bermisheva, Marina ;

Bialkowska, Katarzyna ;

Blomqvist, Carl ;

Bogdanova, Natalia V. ;

Bogdanova-Markov, Nadja ;

Bojesen, Stig E. ;

Bonanni, Bernardo ;

Borresen-Dale, Anne-Lise ;

Brauch, Hiltrud ;

Bremer, Michael ;

Briceno, Ignacio ;

Bruning, Thomas .

NEW ENGLAND JOURNAL OF MEDICINE, 2021, 384 (05) :428-439

[5] Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2:: Analysis of 10,000 individuals [J].

Frank, TS ;

Deffenbaugh, AM ;

Reid, JE ;

Hulick, M ;

Ward, BE ;

Lingenfelter, B ;

Gumpper, KL ;

Scholl, T ;

Tavtigian, SV ;

Pruss, DR ;

Critchfield, GC .

JOURNAL OF CLINICAL ONCOLOGY, 2002, 20 (06) :1480-1490

[6] A Population-Based Study of Genes Previously Implicated in Breast Cancer [J].

Hu, Chunling ;

Hart, Steven N. ;

Gnanaolivu, Rohan ;

Huang, Hongyan ;

Lee, Kun Y. ;

Na, Jie ;

Gao, Chi ;

Lilyquist, Jenna ;

Yadav, Siddhartha ;

Boddicker, Nicholas J. ;

Samara, Raed ;

Klebba, Josh ;

Ambrosone, Christine B. ;

Anton-Culver, Hoda ;

Auer, Paul ;

Bandera, Elisa V. ;

Bernstein, Leslie ;

Bertrand, Kimberly A. ;

Burnside, Elizabeth S. ;

Carter, Brian D. ;

Eliassen, Heather ;

Gapstur, Susan M. ;

Gaudet, Mia ;

Haiman, Christopher ;

Hodge, James M. ;

Hunter, David J. ;

Jacobs, Eric J. ;

John, Esther M. ;

Kooperberg, Charles ;

Kurian, Allison W. ;

Le Marchand, Loic ;

Lindstroem, Sara ;

Lindstrom, Tricia ;

Ma, Huiyan ;

Neuhausen, Susan ;

Newcomb, Polly A. ;

O'Brien, Katie M. ;

Olson, Janet E. ;

Ong, Irene M. ;

Pal, Tuya ;

Palmer, Julie R. ;

Patel, Alpa V. ;

Reid, Sonya ;

Rosenberg, Lynn ;

Sandler, Dale P. ;

Scott, Christopher ;

Tamimi, Rulla ;

Taylor, Jack A. ;

Trentham-Dietz, Amy ;

Vachon, Celine M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2021, 384 (05) :440-451

[7] Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019 [J].

Kurian, Allison W. ;

Ward, Kevin C. ;

Abrahamse, Paul ;

Bondarenko, Irina ;

Hamilton, Ann S. ;

Deapen, Dennis ;

Morrow, Monica ;

Berek, Jonathan S. ;

Hofer, Timothy P. ;

Katz, Steven J. .

JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (15) :1631-+

[8] Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients [J].

Kurian, Allison W. ;

Ward, Kevin C. ;

Howlader, Nadia ;

Deapen, Dennis ;

Hamilton, Ann S. ;

Mariotto, Angela ;

Miller, Daniel ;

Penberthy, Lynne S. ;

Katz, Steven J. .

JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (15) :1305-+

[9] Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women [J].

Kurian, Allison W. ;

Hughes, Elisha ;

Handorf, Elizabeth A. ;

Gutin, Alexander ;

Allen, Brian ;

Hartman, Anne-Renee ;

Hall, Michael J. .

JCO PRECISION ONCOLOGY, 2017, 1 :1-12

[10] Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer [J].

Kurian, Allison W. ;

Ward, Kevin C. ;

Hamilton, Ann S. ;

Deapen, Dennis M. ;

Abrahamse, Paul ;

Bondarenko, Irina ;

Li, Yun ;

Hawley, Sarah T. ;

Morrow, Monica ;

Jagsi, Reshma ;

Katz, Steven J. .

JAMA ONCOLOGY, 2018, 4 (08) :1066-1072

← 1 2 →