Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?
Publication Date
April 16, 2018
Authors
Rachel Mitchell, Lela Buckingham, Melody Cobleigh, Jacob Rotmensch, et al
Volume
13
Issue
4
Pages
e0195497
DOI
https://dx.plos.org/10.1371/journal.pone.0195497
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0195497
Scopus
85045540822
Mendeley
http://www.mendeley.com/research/chimerism-explain-breastovarian-cancers-brca-noncarriers-brcapositive-families
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Mendeley | Further Information

{"title"=>"Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?", "type"=>"journal", "authors"=>[{"first_name"=>"Rachel", "last_name"=>"Mitchell 1☯"}, {"first_name"=>"Lela", "last_name"=>"Buckingham 2☯"}, {"first_name"=>"Melody", "last_name"=>"Cobleigh"}, {"first_name"=>"Jacob", "last_name"=>"Rotmensch"}, {"first_name"=>"Kelly", "last_name"=>"Burgess"}, {"first_name"=>"Lydia", "last_name"=>"Usha 1☯"}], "identifiers"=>{"doi"=>"10.1371/journal.pone.0195497", "sgr"=>"85045540822", "pui"=>"621677368", "scopus"=>"2-s2.0-85045540822", "issn"=>"1932-6203"}, "id"=>"d26b78a5-0503-3d9b-aeeb-49859161c248", "abstract"=>"Hereditary breast and ovarian cancer syndrome (HBOC) is most frequently caused by muta-tions in BRCA1 or BRCA2 (in short, BRCA) genes. The incidence of hereditary breast and ovarian cancer in relatives of BRCA mutation carriers who test negative for the familial muta-tion (non-carriers) may be increased. However, the data is controversial, and at this time, these individuals are recommended the same cancer surveillance as general population. One possible explanation for BRCA phenocopies (close relatives of BRCA carriers who have developed cancer consistent with HBOC but tested negative for a familial mutation) is natural chimerism where lack of detectable mutation in blood may not rule out the presence of the mutation in the other tissues. To test this hypothesis, archival tumor tissue from eleven BRCA phenocopies was investigated. DNA from the tumor tissue was analyzed using sequence-specific PCR, capillary electrophoresis, and pyrosequencing. The familial mutations were originally detected in the patients' first-degree relatives by commercial test-ing. The same testing detected no mutations in the blood of the patients under study. The test methods targeted only the known familial mutation in the tumor tissue. Tumor diagnoses included breast, ovarian, endometrial and primary peritoneal carcinoma. None of the familial mutations were found in the tumor samples tested. These results do not support, but do not completely exclude, the possibility of chimerism in these patients. Further studies with com-prehensive sequence analysis in a larger patient group are warranted as a chimeric state would further refine the predictive value of genetic testing to include BRCA phenocopies.", "link"=>"http://www.mendeley.com/research/chimerism-explain-breastovarian-cancers-brca-noncarriers-brcapositive-families", "reader_count"=>2, "reader_count_by_academic_status"=>{"Student > Ph. D. Student"=>2}, "reader_count_by_user_role"=>{"Student > Ph. D. Student"=>2}, "reader_count_by_subject_area"=>{"Nursing and Health Professions"=>1, "Medicine and Dentistry"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}}, "group_count"=>0}

Scopus | Further Information

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