Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
Estimates of the contribution of BRCA1 and BRCA2 to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in...
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description | Estimates of the contribution of
BRCA1
and
BRCA2
to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in these genes, and there is no published ovarian cancer risk estimate derived from a population-based case series. We screened a population-based series of breast cancer cases diagnosed before the age of 55 for mutations in
BRCA1
and
BRCA2
. Pedigree information from the mutation carriers was used to estimate penetrance and the proportion of familial risk of breast cancer due to
BRCA1
and
BRCA2
. We identified eight (0.7%)
BRCA1
and 16 (1.3%)
BRCA2
mutation carriers in 1220 breast cancer cases (actual sample size 1435 adjusted for 15% polymerase chain reaction failure rate). Mutation prevalence was substantially higher in cases diagnosed before 35 years-of-age and with increasing number of relatives affected with breast or ovarian cancer. However, most mutation carriers were diagnosed in the older age groups, and a minority reported a first-degree relative with breast cancer. Breast cancer penetrance by age 80 was estimated to be 48% (95% CI 7–82%) for
BRCA1
mutation carriers and 74% (7–94%) for
BRCA2
mutation carriers. Ovarian cancer penetrance for
BRCA1
and
BRCA2
combined was 22% (6–65%) by age 80. 17% of the familial risk of breast cancer was attributable to
BRCA1
and
BRCA2
. At birth, the estimated prevalence of
BRCA1
mutation carriers was 0.07% or 0.09% depending on the penetrance function used for the calculation. For
BRCA2
the birth prevalence estimates were 0.14% and 0.22%. Mutations in the genes
BRCA1
and
BRCA2
are rare in the population and account for a small fraction of all breast cancer in the UK. They account for less than one fifth of the familial risk of breast cancer. Eligibility criteria for
BRCA1
and
BRCA2
mutation testing based on family history and age of onset will identify only a small proportion of mutation carriers. © 2000 Cancer Research Campaign |
doi_str_mv | 10.1054/bjoc.2000.1407 |
format | Article |
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BRCA1
and
BRCA2
to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in these genes, and there is no published ovarian cancer risk estimate derived from a population-based case series. We screened a population-based series of breast cancer cases diagnosed before the age of 55 for mutations in
BRCA1
and
BRCA2
. Pedigree information from the mutation carriers was used to estimate penetrance and the proportion of familial risk of breast cancer due to
BRCA1
and
BRCA2
. We identified eight (0.7%)
BRCA1
and 16 (1.3%)
BRCA2
mutation carriers in 1220 breast cancer cases (actual sample size 1435 adjusted for 15% polymerase chain reaction failure rate). Mutation prevalence was substantially higher in cases diagnosed before 35 years-of-age and with increasing number of relatives affected with breast or ovarian cancer. However, most mutation carriers were diagnosed in the older age groups, and a minority reported a first-degree relative with breast cancer. Breast cancer penetrance by age 80 was estimated to be 48% (95% CI 7–82%) for
BRCA1
mutation carriers and 74% (7–94%) for
BRCA2
mutation carriers. Ovarian cancer penetrance for
BRCA1
and
BRCA2
combined was 22% (6–65%) by age 80. 17% of the familial risk of breast cancer was attributable to
BRCA1
and
BRCA2
. At birth, the estimated prevalence of
BRCA1
mutation carriers was 0.07% or 0.09% depending on the penetrance function used for the calculation. For
BRCA2
the birth prevalence estimates were 0.14% and 0.22%. Mutations in the genes
BRCA1
and
BRCA2
are rare in the population and account for a small fraction of all breast cancer in the UK. They account for less than one fifth of the familial risk of breast cancer. Eligibility criteria for
BRCA1
and
BRCA2
mutation testing based on family history and age of onset will identify only a small proportion of mutation carriers. © 2000 Cancer Research Campaign</description><identifier>ISSN: 0007-0920</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1054/bjoc.2000.1407</identifier><identifier>PMID: 11044354</identifier><identifier>CODEN: BJCAAI</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; BRCA2 gene ; Cancer Research ; Drug Resistance ; Epidemiology ; Gynecology. Andrology. Obstetrics ; Mammary gland diseases ; Medical sciences ; Molecular Medicine ; Oncology ; Regular ; regular-article ; Tumors</subject><ispartof>British journal of cancer, 2000-11, Vol.83 (10), p.1301-1308</ispartof><rights>The Author(s) 2000</rights><rights>2001 INIST-CNRS</rights><rights>Copyright © 2000 Cancer Research Campaign 2000 Cancer Research Campaign</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c497t-ade18c5e7d4dbfc7aea0ba36d16a5b49557e7cd3f26488dd37f659cbf66708353</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408797/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408797/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=787764$$DView record in Pascal Francis$$Hfree_for_read</backlink></links><search><title>Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><description>Estimates of the contribution of
BRCA1
and
BRCA2
to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in these genes, and there is no published ovarian cancer risk estimate derived from a population-based case series. We screened a population-based series of breast cancer cases diagnosed before the age of 55 for mutations in
BRCA1
and
BRCA2
. Pedigree information from the mutation carriers was used to estimate penetrance and the proportion of familial risk of breast cancer due to
BRCA1
and
BRCA2
. We identified eight (0.7%)
BRCA1
and 16 (1.3%)
BRCA2
mutation carriers in 1220 breast cancer cases (actual sample size 1435 adjusted for 15% polymerase chain reaction failure rate). Mutation prevalence was substantially higher in cases diagnosed before 35 years-of-age and with increasing number of relatives affected with breast or ovarian cancer. However, most mutation carriers were diagnosed in the older age groups, and a minority reported a first-degree relative with breast cancer. Breast cancer penetrance by age 80 was estimated to be 48% (95% CI 7–82%) for
BRCA1
mutation carriers and 74% (7–94%) for
BRCA2
mutation carriers. Ovarian cancer penetrance for
BRCA1
and
BRCA2
combined was 22% (6–65%) by age 80. 17% of the familial risk of breast cancer was attributable to
BRCA1
and
BRCA2
. At birth, the estimated prevalence of
BRCA1
mutation carriers was 0.07% or 0.09% depending on the penetrance function used for the calculation. For
BRCA2
the birth prevalence estimates were 0.14% and 0.22%. Mutations in the genes
BRCA1
and
BRCA2
are rare in the population and account for a small fraction of all breast cancer in the UK. They account for less than one fifth of the familial risk of breast cancer. Eligibility criteria for
BRCA1
and
BRCA2
mutation testing based on family history and age of onset will identify only a small proportion of mutation carriers. © 2000 Cancer Research Campaign</description><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>BRCA2 gene</subject><subject>Cancer Research</subject><subject>Drug Resistance</subject><subject>Epidemiology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Mammary gland diseases</subject><subject>Medical sciences</subject><subject>Molecular Medicine</subject><subject>Oncology</subject><subject>Regular</subject><subject>regular-article</subject><subject>Tumors</subject><issn>0007-0920</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><recordid>eNp1UcFq3DAQFaWh2aS99iwo9OaNZEmWfSmkS9sUAgmlPQtZGqdevJKrsQP5-0rZJdBDT6N58-YNeo-Q95xtOVPyqt9Ht60Zy61k-hXZcCXqire1fk02GdYV62p2Ti4Q97ntWKvfkHPOmZRCyQ3Z3yd4tBMEB9QGT2cIsCRb2jjQzz921_wZL6-aHtbFLmMMSMdALZ3jvE7PQNVbBE8R0ghYNvsEFhfqilLKBQHfkrPBTgjvTvWS_Pr65efuprq9-_Z9d31bOdnppbIeeOsUaC99PzhtwbLeisbzxqpedkpp0M6LoW5k23ov9NCozvVD02jWCiUuyaej7rz2B_AOQv7QZOY0Hmx6MtGO5t9JGH-bh_hoapnd6XQW-HgSSPHPCriYw4gOpskGiCsarrUQsqszcXskuhQREwwvRzgzJR5T4jElHlPiyQsfTsoWnZ2GYvSIL1u61bqRmXV1ZGEehAdIZh_XFLJn_9P9CzTfn3A</recordid><startdate>20001101</startdate><enddate>20001101</enddate><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>IQODW</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TO</scope><scope>H94</scope><scope>5PM</scope></search><sort><creationdate>20001101</creationdate><title>Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases</title></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c497t-ade18c5e7d4dbfc7aea0ba36d16a5b49557e7cd3f26488dd37f659cbf66708353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>BRCA2 gene</topic><topic>Cancer Research</topic><topic>Drug Resistance</topic><topic>Epidemiology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Mammary gland diseases</topic><topic>Medical sciences</topic><topic>Molecular Medicine</topic><topic>Oncology</topic><topic>Regular</topic><topic>regular-article</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><collection>Springer Nature OA Free Journals</collection><collection>Pascal-Francis</collection><collection>CrossRef</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><date>2000-11-01</date><risdate>2000</risdate><volume>83</volume><issue>10</issue><spage>1301</spage><epage>1308</epage><pages>1301-1308</pages><issn>0007-0920</issn><eissn>1532-1827</eissn><coden>BJCAAI</coden><abstract>Estimates of the contribution of
BRCA1
and
BRCA2
to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in these genes, and there is no published ovarian cancer risk estimate derived from a population-based case series. We screened a population-based series of breast cancer cases diagnosed before the age of 55 for mutations in
BRCA1
and
BRCA2
. Pedigree information from the mutation carriers was used to estimate penetrance and the proportion of familial risk of breast cancer due to
BRCA1
and
BRCA2
. We identified eight (0.7%)
BRCA1
and 16 (1.3%)
BRCA2
mutation carriers in 1220 breast cancer cases (actual sample size 1435 adjusted for 15% polymerase chain reaction failure rate). Mutation prevalence was substantially higher in cases diagnosed before 35 years-of-age and with increasing number of relatives affected with breast or ovarian cancer. However, most mutation carriers were diagnosed in the older age groups, and a minority reported a first-degree relative with breast cancer. Breast cancer penetrance by age 80 was estimated to be 48% (95% CI 7–82%) for
BRCA1
mutation carriers and 74% (7–94%) for
BRCA2
mutation carriers. Ovarian cancer penetrance for
BRCA1
and
BRCA2
combined was 22% (6–65%) by age 80. 17% of the familial risk of breast cancer was attributable to
BRCA1
and
BRCA2
. At birth, the estimated prevalence of
BRCA1
mutation carriers was 0.07% or 0.09% depending on the penetrance function used for the calculation. For
BRCA2
the birth prevalence estimates were 0.14% and 0.22%. Mutations in the genes
BRCA1
and
BRCA2
are rare in the population and account for a small fraction of all breast cancer in the UK. They account for less than one fifth of the familial risk of breast cancer. Eligibility criteria for
BRCA1
and
BRCA2
mutation testing based on family history and age of onset will identify only a small proportion of mutation carriers. © 2000 Cancer Research Campaign</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>11044354</pmid><doi>10.1054/bjoc.2000.1407</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Biological and medical sciences Biomedical and Life Sciences Biomedicine BRCA2 gene Cancer Research Drug Resistance Epidemiology Gynecology. Andrology. Obstetrics Mammary gland diseases Medical sciences Molecular Medicine Oncology Regular regular-article Tumors |
title | Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases |
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