Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology. Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127...
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| Veröffentlicht in: | Genetics in medicine 2021-10, Vol.23 (10), p.1969-1976 |
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| creator | Woodward, Emma R. van Veen, Elke M. Forde, Claire Harkness, Elaine F. Byers, Helen J. Ellingford, Jamie M. Burghel, George J. Schlech, Helene Bowers, Naomi L. Wallace, Andrew J. Howell, Sacha J. Howell, Anthony Lalloo, Fiona Newman, William G. Smith, Miriam J. Gareth Evans, D. |
| description | To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology.
Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or epithelial nonmucinous ovarian cancer, and 1,567 female controls. Breast cancer pathology was recorded in PALB2_PGV cases from extended families.
Thirty-five PALB2 and 44 CHEK2_1100delC PGVs were detected in patients (odds ratio [OR] PALB2 breast–ovarian = 5.90 [95% CI: 1.92–18.36], CHEK2 breast–ovarian = 4.46 [95% CI: 1.86–10.46], PALB2 breast = 6.16 [95% CI: 1.98–19.21], CHEK2 breast = 4.89 [95% CI: 2.01–11.34]). Grade 3 ER-positive HER2-negative, grade 3 and triple negative (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers known to our service (respectively: 15/43, 254/1,843, P = 0.0005; 28/37, 562/1,381, P = 0.0001; 12/43, 204/1,639, P |
| doi_str_mv | 10.1038/s41436-021-01234-6 |
| format | Article |
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Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or epithelial nonmucinous ovarian cancer, and 1,567 female controls. Breast cancer pathology was recorded in PALB2_PGV cases from extended families.
Thirty-five PALB2 and 44 CHEK2_1100delC PGVs were detected in patients (odds ratio [OR] PALB2 breast–ovarian = 5.90 [95% CI: 1.92–18.36], CHEK2 breast–ovarian = 4.46 [95% CI: 1.86–10.46], PALB2 breast = 6.16 [95% CI: 1.98–19.21], CHEK2 breast = 4.89 [95% CI: 2.01–11.34]). Grade 3 ER-positive HER2-negative, grade 3 and triple negative (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers known to our service (respectively: 15/43, 254/1,843, P = 0.0005; 28/37, 562/1,381, P = 0.0001; 12/43, 204/1,639, P < 0.0001). PALB2_PGV likelihood increased with increasing Manchester score (MS) (MS < 15 = 17/1,763, MS 20–39 = 11/520, P = 0.04) but not for CHEK2_1100delC (MS < 15 = 29/1,762, MS 20–39 = 4/520). PALB2 PGVs showed perfect segregation in 20/20 first-degree relatives with breast cancer, compared with 7/13 for CHEK2_1100delC (P = 0.002).
PALB2 PGVs and CHEK2_1100delC together account for ~2.5% of familial breast/ovarian cancer risk. PALB2 PGVs are associated with grade 3, TN, and grade 3 ER-positive HER2-negative breast tumors.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/s41436-021-01234-6</identifier><identifier>PMID: 34113003</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Breast cancer ; Breast Neoplasms - diagnosis ; Breast Neoplasms - genetics ; Checkpoint Kinase 2 - genetics ; Fanconi Anemia Complementation Group N Protein - genetics ; Female ; Genetic Predisposition to Disease ; Human Genetics ; Humans ; Laboratory Medicine ; Odds Ratio ; Ovarian cancer ; Ovarian Neoplasms - diagnosis ; Ovarian Neoplasms - genetics ; Tumors</subject><ispartof>Genetics in medicine, 2021-10, Vol.23 (10), p.1969-1976</ispartof><rights>2021 The Author(s)</rights><rights>The Author(s) 2021</rights><rights>2021. The Author(s).</rights><rights>The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c527t-3a9290f760efb997b42a9f74fe1682ac5c88b1abe34a0605c87178275302be5e3</citedby><cites>FETCH-LOGICAL-c527t-3a9290f760efb997b42a9f74fe1682ac5c88b1abe34a0605c87178275302be5e3</cites><orcidid>0000-0002-6297-2855</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2578273105?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,780,784,885,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34113003$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Woodward, Emma R.</creatorcontrib><creatorcontrib>van Veen, Elke M.</creatorcontrib><creatorcontrib>Forde, Claire</creatorcontrib><creatorcontrib>Harkness, Elaine F.</creatorcontrib><creatorcontrib>Byers, Helen J.</creatorcontrib><creatorcontrib>Ellingford, Jamie M.</creatorcontrib><creatorcontrib>Burghel, George J.</creatorcontrib><creatorcontrib>Schlech, Helene</creatorcontrib><creatorcontrib>Bowers, Naomi L.</creatorcontrib><creatorcontrib>Wallace, Andrew J.</creatorcontrib><creatorcontrib>Howell, Sacha J.</creatorcontrib><creatorcontrib>Howell, Anthony</creatorcontrib><creatorcontrib>Lalloo, Fiona</creatorcontrib><creatorcontrib>Newman, William G.</creatorcontrib><creatorcontrib>Smith, Miriam J.</creatorcontrib><creatorcontrib>Gareth Evans, D.</creatorcontrib><title>Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology.
Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or epithelial nonmucinous ovarian cancer, and 1,567 female controls. Breast cancer pathology was recorded in PALB2_PGV cases from extended families.
Thirty-five PALB2 and 44 CHEK2_1100delC PGVs were detected in patients (odds ratio [OR] PALB2 breast–ovarian = 5.90 [95% CI: 1.92–18.36], CHEK2 breast–ovarian = 4.46 [95% CI: 1.86–10.46], PALB2 breast = 6.16 [95% CI: 1.98–19.21], CHEK2 breast = 4.89 [95% CI: 2.01–11.34]). Grade 3 ER-positive HER2-negative, grade 3 and triple negative (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers known to our service (respectively: 15/43, 254/1,843, P = 0.0005; 28/37, 562/1,381, P = 0.0001; 12/43, 204/1,639, P < 0.0001). PALB2_PGV likelihood increased with increasing Manchester score (MS) (MS < 15 = 17/1,763, MS 20–39 = 11/520, P = 0.04) but not for CHEK2_1100delC (MS < 15 = 29/1,762, MS 20–39 = 4/520). PALB2 PGVs showed perfect segregation in 20/20 first-degree relatives with breast cancer, compared with 7/13 for CHEK2_1100delC (P = 0.002).
PALB2 PGVs and CHEK2_1100delC together account for ~2.5% of familial breast/ovarian cancer risk. PALB2 PGVs are associated with grade 3, TN, and grade 3 ER-positive HER2-negative breast tumors.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - diagnosis</subject><subject>Breast Neoplasms - genetics</subject><subject>Checkpoint Kinase 2 - genetics</subject><subject>Fanconi Anemia Complementation Group N Protein - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Odds Ratio</subject><subject>Ovarian cancer</subject><subject>Ovarian Neoplasms - diagnosis</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Tumors</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kUtv1DAUhS0EoqXwB1ggS2zYpFw_k0gIqUSFIkaCBYil5Tg3g6uMXexkpP57PE0pj0VXtnXPOb5HHyHPGZwyEM3rLJkUugLOKmBcyEo_IMdMCahAaP2w3KFtKqEBjsiTnC8BWC04PCZHQjImAMQx-d5NPnhnJ7rMfvLzNY0jnTHPPmzpGBP9crZ5x6kNA-0uzj9x6k4ZAxhw6qgPtE9o83wzjnubvA3U2eAwPSWPRjtlfHZ7npBv78-_dhfV5vOHj93ZpnKK13MlbMtbGGsNOPZtW_eS23as5YhMN9w65ZqmZ7ZHIS1oKM-a1Q2vS0neo0JxQt6uuVdLv8PBYZiTncxV8jubrk203vw7Cf6H2ca9aWSjtVIl4NVtQIo_l1Lc7Hx2OE02YFyy4UqCYlrJg_Tlf9LLuKRQ6hXVYSvB4KDiq8qlmHPC8W4ZBubAzazcTOFmbrgZXUwv_q5xZ_kNqgjEKshlFLaY_vx9b-yb1YUFwd4XV3YeC5_BJ3SzGaK_z_4LnCizwQ</recordid><startdate>20211001</startdate><enddate>20211001</enddate><creator>Woodward, Emma R.</creator><creator>van Veen, Elke M.</creator><creator>Forde, Claire</creator><creator>Harkness, Elaine F.</creator><creator>Byers, Helen J.</creator><creator>Ellingford, Jamie M.</creator><creator>Burghel, George J.</creator><creator>Schlech, Helene</creator><creator>Bowers, Naomi L.</creator><creator>Wallace, Andrew J.</creator><creator>Howell, Sacha J.</creator><creator>Howell, Anthony</creator><creator>Lalloo, Fiona</creator><creator>Newman, William G.</creator><creator>Smith, Miriam J.</creator><creator>Gareth Evans, D.</creator><general>Elsevier Inc</general><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-6297-2855</orcidid></search><sort><creationdate>20211001</creationdate><title>Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer</title><author>Woodward, Emma R. ; van Veen, Elke M. ; Forde, Claire ; Harkness, Elaine F. ; Byers, Helen J. ; Ellingford, Jamie M. ; Burghel, George J. ; Schlech, Helene ; Bowers, Naomi L. ; Wallace, Andrew J. ; Howell, Sacha J. ; Howell, Anthony ; Lalloo, Fiona ; Newman, William G. ; Smith, Miriam J. ; Gareth Evans, D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c527t-3a9290f760efb997b42a9f74fe1682ac5c88b1abe34a0605c87178275302be5e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - diagnosis</topic><topic>Breast Neoplasms - genetics</topic><topic>Checkpoint Kinase 2 - genetics</topic><topic>Fanconi Anemia Complementation Group N Protein - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Odds Ratio</topic><topic>Ovarian cancer</topic><topic>Ovarian Neoplasms - diagnosis</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Woodward, Emma R.</creatorcontrib><creatorcontrib>van Veen, Elke M.</creatorcontrib><creatorcontrib>Forde, Claire</creatorcontrib><creatorcontrib>Harkness, Elaine F.</creatorcontrib><creatorcontrib>Byers, Helen J.</creatorcontrib><creatorcontrib>Ellingford, Jamie M.</creatorcontrib><creatorcontrib>Burghel, George J.</creatorcontrib><creatorcontrib>Schlech, Helene</creatorcontrib><creatorcontrib>Bowers, Naomi L.</creatorcontrib><creatorcontrib>Wallace, Andrew J.</creatorcontrib><creatorcontrib>Howell, Sacha J.</creatorcontrib><creatorcontrib>Howell, Anthony</creatorcontrib><creatorcontrib>Lalloo, Fiona</creatorcontrib><creatorcontrib>Newman, William G.</creatorcontrib><creatorcontrib>Smith, Miriam J.</creatorcontrib><creatorcontrib>Gareth Evans, D.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Woodward, Emma R.</au><au>van Veen, Elke M.</au><au>Forde, Claire</au><au>Harkness, Elaine F.</au><au>Byers, Helen J.</au><au>Ellingford, Jamie M.</au><au>Burghel, George J.</au><au>Schlech, Helene</au><au>Bowers, Naomi L.</au><au>Wallace, Andrew J.</au><au>Howell, Sacha J.</au><au>Howell, Anthony</au><au>Lalloo, Fiona</au><au>Newman, William G.</au><au>Smith, Miriam J.</au><au>Gareth Evans, D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2021-10-01</date><risdate>2021</risdate><volume>23</volume><issue>10</issue><spage>1969</spage><epage>1976</epage><pages>1969-1976</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology.
Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or epithelial nonmucinous ovarian cancer, and 1,567 female controls. Breast cancer pathology was recorded in PALB2_PGV cases from extended families.
Thirty-five PALB2 and 44 CHEK2_1100delC PGVs were detected in patients (odds ratio [OR] PALB2 breast–ovarian = 5.90 [95% CI: 1.92–18.36], CHEK2 breast–ovarian = 4.46 [95% CI: 1.86–10.46], PALB2 breast = 6.16 [95% CI: 1.98–19.21], CHEK2 breast = 4.89 [95% CI: 2.01–11.34]). Grade 3 ER-positive HER2-negative, grade 3 and triple negative (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers known to our service (respectively: 15/43, 254/1,843, P = 0.0005; 28/37, 562/1,381, P = 0.0001; 12/43, 204/1,639, P < 0.0001). PALB2_PGV likelihood increased with increasing Manchester score (MS) (MS < 15 = 17/1,763, MS 20–39 = 11/520, P = 0.04) but not for CHEK2_1100delC (MS < 15 = 29/1,762, MS 20–39 = 4/520). PALB2 PGVs showed perfect segregation in 20/20 first-degree relatives with breast cancer, compared with 7/13 for CHEK2_1100delC (P = 0.002).
PALB2 PGVs and CHEK2_1100delC together account for ~2.5% of familial breast/ovarian cancer risk. PALB2 PGVs are associated with grade 3, TN, and grade 3 ER-positive HER2-negative breast tumors.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>34113003</pmid><doi>10.1038/s41436-021-01234-6</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-6297-2855</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Biomedical and Life Sciences Biomedicine Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Checkpoint Kinase 2 - genetics Fanconi Anemia Complementation Group N Protein - genetics Female Genetic Predisposition to Disease Human Genetics Humans Laboratory Medicine Odds Ratio Ovarian cancer Ovarian Neoplasms - diagnosis Ovarian Neoplasms - genetics Tumors |
| title | Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer |
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