{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T13:24:36Z","timestamp":1792243476621,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T00:00:00Z","timestamp":1572825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Although management guidelines exist for several genes associated with a 2\u2010fold to 5\u2010fold increase in the relative risk for certain cancers, the value of testing for them remains controversial.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>De\u2010identified personal and family history data for 654 individuals\u00a0with pathogenic variants (PVs) in <jats:italic>PALB2<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>CHEK2<\/jats:italic>, <jats:italic>NBN<\/jats:italic>, <jats:italic>BRIP1<\/jats:italic>, <jats:italic>RAD51C<\/jats:italic>, and\/or <jats:italic>RAD51D<\/jats:italic> were analyzed for pretest and post\u2010test candidacy for guideline\u2010recommended management of cancer risk. These individuals were invited to complete a survey about provider recommendations and their adherence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four percent of <jats:italic>CHEK2<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>PALB2<\/jats:italic>, or <jats:italic>NBN<\/jats:italic> PV carriers were appropriate for consideration of annual breast magnetic resonance imaging screening before genetic testing, with the remaining 76% appropriate only after testing. No <jats:italic>BRIP1<\/jats:italic>, <jats:italic>RAD51C<\/jats:italic>, or <jats:italic>RAD51D<\/jats:italic> PV carriers were appropriate for consideration of risk\u2010reducing salpingo\u2010oophorectomy before genetic testing; 100% were appropriate only after testing. Seventeen percent of <jats:italic>CHEK2<\/jats:italic> PV carriers were appropriate for earlier and more frequent colonoscopy before genetic testing, with the remaining 83% appropriate only after testing. Provider recommendations for annual breast magnetic resonance imaging, consideration of risk\u2010reducing salpingo\u2010oophorectomy, and earlier and more frequent colonoscopy were reported by 42%, 26%, and 66% of breast, ovarian, and colorectal cancer risk PV carriers, respectively, before genetic testing, versus 82%, 79%, and 81%, respectively, after testing. Nearly all respondents had planned or undertaken provider\u2010recommended management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Testing for <jats:italic>PALB2<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>CHEK2<\/jats:italic>, <jats:italic>NBN<\/jats:italic>, <jats:italic>BRIP1<\/jats:italic>, <jats:italic>RAD51C<\/jats:italic>, and <jats:italic>RAD51D<\/jats:italic> changed management for those carrying PVs. Provider recommendations were aligned with guidelines, and patients adhered to recommendations,\u00a0both of which are critical for reducing both long\u2010term cancer morbidity and mortality.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.32572","type":"journal-article","created":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T08:10:31Z","timestamp":1572855031000},"page":"549-558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Clinical utility of hereditary cancer panel testing: Impact of <i>PALB2<\/i>, <i>ATM<\/i>, <i>CHEK2<\/i>, <i>NBN<\/i>, <i>BRIP1<\/i>, <i>RAD51C<\/i>, and <i>RAD51D<\/i> results on patient management and adherence to provider recommendations"],"prefix":"10.1002","volume":"126","author":[{"given":"Valentina","family":"Vysotskaia","sequence":"first","affiliation":[{"name":"Myriad Women's Health South San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. Eerik","family":"Kaseniit","sequence":"additional","affiliation":[{"name":"Myriad Genetics Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Bucheit","sequence":"additional","affiliation":[{"name":"Myriad Women's Health South San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaylene","family":"Ready","sequence":"additional","affiliation":[{"name":"Myriad Women's Health South San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Price","sequence":"additional","affiliation":[{"name":"Counsyl, Inc. South San Fancisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-2667","authenticated-orcid":false,"given":"Katherine","family":"Johansen Taber","sequence":"additional","affiliation":[{"name":"Myriad Women's Health South San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,4]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae). Genetic\/Familial High\u2010Risk Assessment: Breast and Ovarian. Version 2.2019","author":"National Comprehensive Cancer Network (NCCN)","year":"2019"},{"key":"e_1_2_8_3_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae). Genetic\/Familial High\u2010Risk Assessment: Colorectal. Version 1.2018","author":"National Comprehensive Cancer Network (NCCN)","year":"2018"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2016.90"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2015.12.013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2014.0128"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2015.01.537"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2018.0644"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.2690"},{"key":"e_1_2_8_10_1","first-page":"14561","article-title":"Increased identification of candidates for high\u2010risk breast cancer screening through expanded genetic testing","author":"Rosenthal ET","year":"2017","journal-title":"J Am Coll Radiol"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00432-018-2763-9"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.12699"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2017.04.009"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.46.9403"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1200\/EDBK_158817"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.56.0474"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2017.0022"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.63.0996"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19940201)73:3<643::AID-CNCR2820730323>3.0.CO;2-5"},{"key":"e_1_2_8_20_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae). Breast Cancer. Version 4.2018","author":"National Comprehensive Cancer Network (NCCN)","year":"2018"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2017.174"},{"key":"e_1_2_8_22_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae). Ovarian Cancer Including Fallopian Tube Cancer and Primary Peritoneal Cancer. Version 2.2018","author":"National Comprehensive Cancer Network (NCCN)","year":"2018"},{"key":"e_1_2_8_23_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae). Breast Cancer Screening and Diagnosis. Version 3.2018","author":"National Comprehensive Cancer Network (NCCN)","year":"2018"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-011-1449-7"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1188\/09.ONF.E57-E67"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.57.2.75"}],"container-title":["Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cncr.32572","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cncr.32572","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cncr.32572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T10:22:00Z","timestamp":1760264520000},"score":1,"resource":{"primary":{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/10.1002\/cncr.32572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,4]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/cncr.32572"],"URL":"https:\/\/doi.org\/10.1002\/cncr.32572","archive":["Portico"],"relation":{},"ISSN":["0008-543X","1097-0142"],"issn-type":[{"value":"0008-543X","type":"print"},{"value":"1097-0142","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,4]]},"assertion":[{"value":"2019-05-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}