Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK21100delC Germline Mutation
Women carrying a CHEK2*1100delC germline mutation have an increased risk of developing breast cancer. This study aims to determine the proportion of CHEK2*1100delC carriers in a premenopausal breast cancer population, unselected for family history of breast cancer, and to investigate tumor character...
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| Veröffentlicht in: | Journal of clinical oncology 2007-01, Vol.25 (1), p.64-69 |
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| creator | Schmidt, Marjanka K Tollenaar, Rob A E M de Kemp, Sanne R Broeks, Annegien Cornelisse, Cees J Smit, Vincent T H B M Peterse, Johannes L van Leeuwen, Flora E Van't Veer, Laura J |
| description | Women carrying a CHEK2*1100delC germline mutation have an increased risk of developing breast cancer. This study aims to determine the proportion of CHEK2*1100delC carriers in a premenopausal breast cancer population, unselected for family history of breast cancer, and to investigate tumor characteristics and disease outcome with sufficient follow-up.
We identified a retrospective cohort of 1,479 patients, who received surgery for invasive breast cancer between 1970 and 1994. All patients were diagnosed before age 50. Paraffin-embedded tissue blocks were collected for DNA isolation (normal tissue), subsequent CHEK2*1100delC analysis, and tumor revision. Median follow-up was 10.1 years.
We detected a CHEK2*1100delC germline mutation in 54 patients (3.7%). Tumor characteristics of CHEK2*1100delC carriers did not differ significantly from those of noncarriers. CHEK2*1100delC carriers had a two-fold increased risk (hazard ratio [HR], 2.1; 95% CI, 1.0 to 4.3; P = .049) of developing a second breast cancer and they had worse recurrence-free survival (HR, 1.7; 95% CI, 1.2 to 2.4; P = .006) and worse breast cancer-specific survival (HR, 1.4; 95% CI, 1.0 to 2.1; P = .072) compared with noncarriers. The poorer disease outcome of CHEK2*1100delC carriers could not be explained by the increased risk of second breast cancer.
Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management. |
| doi_str_mv | 10.1200/JCO.2006.06.3024 |
| format | Article |
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We identified a retrospective cohort of 1,479 patients, who received surgery for invasive breast cancer between 1970 and 1994. All patients were diagnosed before age 50. Paraffin-embedded tissue blocks were collected for DNA isolation (normal tissue), subsequent CHEK2*1100delC analysis, and tumor revision. Median follow-up was 10.1 years.
We detected a CHEK2*1100delC germline mutation in 54 patients (3.7%). Tumor characteristics of CHEK2*1100delC carriers did not differ significantly from those of noncarriers. CHEK2*1100delC carriers had a two-fold increased risk (hazard ratio [HR], 2.1; 95% CI, 1.0 to 4.3; P = .049) of developing a second breast cancer and they had worse recurrence-free survival (HR, 1.7; 95% CI, 1.2 to 2.4; P = .006) and worse breast cancer-specific survival (HR, 1.4; 95% CI, 1.0 to 2.1; P = .072) compared with noncarriers. The poorer disease outcome of CHEK2*1100delC carriers could not be explained by the increased risk of second breast cancer.
Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management.</description><identifier>ISSN: 0732-183X</identifier><identifier>EISSN: 1527-7755</identifier><identifier>DOI: 10.1200/JCO.2006.06.3024</identifier><identifier>PMID: 17132695</identifier><language>eng</language><publisher>Baltimore, MD: American Society of Clinical Oncology</publisher><subject>Adult ; Biological and medical sciences ; Breast Neoplasms - genetics ; Breast Neoplasms - mortality ; Checkpoint Kinase 2 ; Disease-Free Survival ; Family Health ; Female ; Follow-Up Studies ; Germ-Line Mutation ; Gynecology. Andrology. Obstetrics ; Humans ; Mammary gland diseases ; Medical sciences ; Middle Aged ; Polymorphism, Genetic ; Premenopause ; Proportional Hazards Models ; Protein-Serine-Threonine Kinases - genetics ; Retrospective Studies ; Risk ; Treatment Outcome ; Tumors</subject><ispartof>Journal of clinical oncology, 2007-01, Vol.25 (1), p.64-69</ispartof><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c403t-e2f9258824e63f67480af61c256ca20d2792e88b57b3f0a8dde47dd22be8bee63</citedby><cites>FETCH-LOGICAL-c403t-e2f9258824e63f67480af61c256ca20d2792e88b57b3f0a8dde47dd22be8bee63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,3720,27915,27916</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18422564$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17132695$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schmidt, Marjanka K</creatorcontrib><creatorcontrib>Tollenaar, Rob A E M</creatorcontrib><creatorcontrib>de Kemp, Sanne R</creatorcontrib><creatorcontrib>Broeks, Annegien</creatorcontrib><creatorcontrib>Cornelisse, Cees J</creatorcontrib><creatorcontrib>Smit, Vincent T H B M</creatorcontrib><creatorcontrib>Peterse, Johannes L</creatorcontrib><creatorcontrib>van Leeuwen, Flora E</creatorcontrib><creatorcontrib>Van't Veer, Laura J</creatorcontrib><title>Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK21100delC Germline Mutation</title><title>Journal of clinical oncology</title><addtitle>J Clin Oncol</addtitle><description>Women carrying a CHEK2*1100delC germline mutation have an increased risk of developing breast cancer. This study aims to determine the proportion of CHEK2*1100delC carriers in a premenopausal breast cancer population, unselected for family history of breast cancer, and to investigate tumor characteristics and disease outcome with sufficient follow-up.
We identified a retrospective cohort of 1,479 patients, who received surgery for invasive breast cancer between 1970 and 1994. All patients were diagnosed before age 50. Paraffin-embedded tissue blocks were collected for DNA isolation (normal tissue), subsequent CHEK2*1100delC analysis, and tumor revision. Median follow-up was 10.1 years.
We detected a CHEK2*1100delC germline mutation in 54 patients (3.7%). Tumor characteristics of CHEK2*1100delC carriers did not differ significantly from those of noncarriers. CHEK2*1100delC carriers had a two-fold increased risk (hazard ratio [HR], 2.1; 95% CI, 1.0 to 4.3; P = .049) of developing a second breast cancer and they had worse recurrence-free survival (HR, 1.7; 95% CI, 1.2 to 2.4; P = .006) and worse breast cancer-specific survival (HR, 1.4; 95% CI, 1.0 to 2.1; P = .072) compared with noncarriers. The poorer disease outcome of CHEK2*1100delC carriers could not be explained by the increased risk of second breast cancer.
Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - mortality</subject><subject>Checkpoint Kinase 2</subject><subject>Disease-Free Survival</subject><subject>Family Health</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Germ-Line Mutation</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Mammary gland diseases</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Polymorphism, Genetic</subject><subject>Premenopause</subject><subject>Proportional Hazards Models</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>Retrospective Studies</subject><subject>Risk</subject><subject>Treatment Outcome</subject><subject>Tumors</subject><issn>0732-183X</issn><issn>1527-7755</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkE1r3DAQhkVpabZp7z0VHZrevJXGlqU9tiYfbVNSSEJ7E7I8zirI9laSE_LvI7MLgYFh4HlfmIeQj5ytOTD29Wdztc67XucpGVSvyIoLkIWUQrwmKyZLKLgq_x2RdzHeM8YrVYq35IhLXkK9ESuSvgc0MdHGjBYDvZ7Dg3swnpqxozfzMAXabE0wNmFwMTkbqRvpn4ADjtPOzDGjf6d85IIQntx4R9MWaXNx-gs4Z6xD39BzDIN3I9LfczLJTeN78qY3PuKHwz4mt2enN81FcXl1_qP5dlnYipWpQOg3IJSCCuuyr2WlmOlrbkHU1gDrQG4AlWqFbMueGdV1WMmuA2hRtZgzx-TLvncXpv8zxqQHFy16b0ac5qhrVSpebRaQ7UEbphgD9noX3GDCk-ZML6Z1Nq0X0zrPYjpHPh2653bA7iVwUJuBkwNgojW-D9mwiy-cqiA_shR93nNbd7d9dAF1HIz3uRb0vZ1AaK4z9gwB2JMJ</recordid><startdate>20070101</startdate><enddate>20070101</enddate><creator>Schmidt, Marjanka K</creator><creator>Tollenaar, Rob A E M</creator><creator>de Kemp, Sanne R</creator><creator>Broeks, Annegien</creator><creator>Cornelisse, Cees J</creator><creator>Smit, Vincent T H B M</creator><creator>Peterse, Johannes L</creator><creator>van Leeuwen, Flora E</creator><creator>Van't Veer, Laura J</creator><general>American Society of Clinical Oncology</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>20070101</creationdate><title>Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK21100delC Germline Mutation</title><author>Schmidt, Marjanka K ; Tollenaar, Rob A E M ; de Kemp, Sanne R ; Broeks, Annegien ; Cornelisse, Cees J ; Smit, Vincent T H B M ; Peterse, Johannes L ; van Leeuwen, Flora E ; Van't Veer, Laura J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-e2f9258824e63f67480af61c256ca20d2792e88b57b3f0a8dde47dd22be8bee63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Breast Neoplasms - genetics</topic><topic>Breast Neoplasms - mortality</topic><topic>Checkpoint Kinase 2</topic><topic>Disease-Free Survival</topic><topic>Family Health</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Germ-Line Mutation</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Mammary gland diseases</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Polymorphism, Genetic</topic><topic>Premenopause</topic><topic>Proportional Hazards Models</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Retrospective Studies</topic><topic>Risk</topic><topic>Treatment Outcome</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schmidt, Marjanka K</creatorcontrib><creatorcontrib>Tollenaar, Rob A E M</creatorcontrib><creatorcontrib>de Kemp, Sanne R</creatorcontrib><creatorcontrib>Broeks, Annegien</creatorcontrib><creatorcontrib>Cornelisse, Cees J</creatorcontrib><creatorcontrib>Smit, Vincent T H B M</creatorcontrib><creatorcontrib>Peterse, Johannes L</creatorcontrib><creatorcontrib>van Leeuwen, Flora E</creatorcontrib><creatorcontrib>Van't Veer, Laura J</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schmidt, Marjanka K</au><au>Tollenaar, Rob A E M</au><au>de Kemp, Sanne R</au><au>Broeks, Annegien</au><au>Cornelisse, Cees J</au><au>Smit, Vincent T H B M</au><au>Peterse, Johannes L</au><au>van Leeuwen, Flora E</au><au>Van't Veer, Laura J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK21100delC Germline Mutation</atitle><jtitle>Journal of clinical oncology</jtitle><addtitle>J Clin Oncol</addtitle><date>2007-01-01</date><risdate>2007</risdate><volume>25</volume><issue>1</issue><spage>64</spage><epage>69</epage><pages>64-69</pages><issn>0732-183X</issn><eissn>1527-7755</eissn><abstract>Women carrying a CHEK2*1100delC germline mutation have an increased risk of developing breast cancer. This study aims to determine the proportion of CHEK2*1100delC carriers in a premenopausal breast cancer population, unselected for family history of breast cancer, and to investigate tumor characteristics and disease outcome with sufficient follow-up.
We identified a retrospective cohort of 1,479 patients, who received surgery for invasive breast cancer between 1970 and 1994. All patients were diagnosed before age 50. Paraffin-embedded tissue blocks were collected for DNA isolation (normal tissue), subsequent CHEK2*1100delC analysis, and tumor revision. Median follow-up was 10.1 years.
We detected a CHEK2*1100delC germline mutation in 54 patients (3.7%). Tumor characteristics of CHEK2*1100delC carriers did not differ significantly from those of noncarriers. CHEK2*1100delC carriers had a two-fold increased risk (hazard ratio [HR], 2.1; 95% CI, 1.0 to 4.3; P = .049) of developing a second breast cancer and they had worse recurrence-free survival (HR, 1.7; 95% CI, 1.2 to 2.4; P = .006) and worse breast cancer-specific survival (HR, 1.4; 95% CI, 1.0 to 2.1; P = .072) compared with noncarriers. The poorer disease outcome of CHEK2*1100delC carriers could not be explained by the increased risk of second breast cancer.
Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management.</abstract><cop>Baltimore, MD</cop><pub>American Society of Clinical Oncology</pub><pmid>17132695</pmid><doi>10.1200/JCO.2006.06.3024</doi><tpages>6</tpages></addata></record> |
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| source | MEDLINE; American Society of Clinical Oncology; EZB Electronic Journals Library |
| subjects | Adult Biological and medical sciences Breast Neoplasms - genetics Breast Neoplasms - mortality Checkpoint Kinase 2 Disease-Free Survival Family Health Female Follow-Up Studies Germ-Line Mutation Gynecology. Andrology. Obstetrics Humans Mammary gland diseases Medical sciences Middle Aged Polymorphism, Genetic Premenopause Proportional Hazards Models Protein-Serine-Threonine Kinases - genetics Retrospective Studies Risk Treatment Outcome Tumors |
| title | Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK21100delC Germline Mutation |
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