caa a22 4500 445331054 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10689-011-9467-5 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9467-5 Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan [Elektronische Daten] [Muhammad Rashid, Sidra Gull, Saima Faisal, Saba Khaliq, Kashif Asghar, Neelam Siddiqui, Asim Amin, Ute Hamann] Pathogenic germ line mutations in the BRCA1 and BRCA2 genes confer elevated risk of breast and ovarian cancer in females and have a link with variety of cancers other than breast cancer in males. Here we report the first case of a 45-year-old Pakistani male with renal cell carcinoma who was identified to harbor a disease-associated BRCA1 germ line mutation, 2080insA. Detailed description of the family history, clinical presentation and histopathological features of the renal cell carcinoma are presented. Springer Science+Business Media B.V., 2011 BRCA1 nationallicence 2080insA mutation nationallicence Familial cancer nationallicence Renal cell carcinoma nationallicence RCC : Renal cell carcinoma nationallicence Rashid Muhammad Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Gull Sidra Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Faisal Saima Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Khaliq Saba Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Asghar Kashif Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Siddiqui Neelam Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut Amin Asim Blumenthal Cancer Centre, Carolinas Medical Centre, Charlotte, CA, USA aut Hamann Ute Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany aut Familial Cancer Springer Netherlands 10/4(2011-12-01), 709-712 1389-9600 10:4<709 2011 10 10689 https://doi.org/10.1007/s10689-011-9467-5 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9467-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rashid Muhammad Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Gull Sidra Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Faisal Saima Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Khaliq Saba Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Asghar Kashif Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Siddiqui Neelam Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan aut NATIONALLICENCE 700 1- Amin Asim Blumenthal Cancer Centre, Carolinas Medical Centre, Charlotte, CA, USA aut NATIONALLICENCE 700 1- Hamann Ute Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/4(2011-12-01), 709-712 1389-9600 10:4<709 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer