Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome

2007 ◽  
Vol 4 (10) ◽  
pp. 578-590 ◽  
Author(s):  
Dimitrios H Roukos ◽  
Evangelos Briasoulis
2000 ◽  
Vol 79 (3) ◽  
pp. 477-481 ◽  
Author(s):  
Ran Goshen ◽  
William Chu ◽  
Laurie Elit ◽  
Tuya Pal ◽  
Jalil Hakimi ◽  
...  

2013 ◽  
Vol 40 (3) ◽  
pp. 475-512 ◽  
Author(s):  
Dana Meaney-Delman ◽  
Cecelia A. Bellcross

Oncotarget ◽  
2016 ◽  
Vol 7 (11) ◽  
pp. 11959-11971 ◽  
Author(s):  
Javier A. Menendez ◽  
Núria Folguera-Blasco ◽  
Elisabet Cuyàs ◽  
Salvador Fernández-Arroyo ◽  
Jorge Joven ◽  
...  

2020 ◽  
Vol 3 (2) ◽  
pp. 374 ◽  
Author(s):  
Anvesh Rathore ◽  
Subhash Ranjan ◽  
AP Dubey

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13153-e13153
Author(s):  
Veda Padma Priya Selvakumar ◽  
Shubha Garg ◽  
Jatinder Kaur ◽  
Geeta Kadayaprath ◽  
Nitesh Rohatgi ◽  
...  

e13153 Background: Women with Hereditary breast ovarian cancer have an increased lifetime risk of developing breast, ovarian and other second primary cancers . A number of genes including BRCA 1 & 2 have been implicated in Hereditary Breast Ovarian Cancer. In this background we sought to analyze the genetic pattern of patients who underwent genetic testing as per the NCCN criteria for hereditary breast ovarian cancer syndrome. Methods: All consecutive patients who fit into the NCCN criteria for genetic testing for Hereditary Breast Ovarian Cancer from 2016 to 2018 were referred to our genetic clinic. The data of all the patients who underwent further genetic testing after counselling were collected and analyzed. Results: Out of 155 patients who underwent genetic testing ,131 patients were found eligible for the study.127 were female and 4 were male. There were 27 pathogenic mutations identified while 32 were variants of unknown significance . The remaining 72 were negative for any of the known mutations. 22 were pathogenic for BRCA 1 Mutation , two pathogenic for BRCA 2 and one for TP53 ,PALB2 and ATM each. Out of the 32 VUS, 9 were BRCA 2, 4 in CDH 1, 2 in BRCA1, CHEK2 ,MSH2 and BRIP1 and one each in MLH1, MLH3, ATM, APC, RAD51D, XRCC3, NBN, TP53.Three patients had double VUS reported. BRCA 1 is the most common pathogenic mutation ( 16.79% ) found while BRCA 2 is the most common VUS reported ( 28 %). Conclusions: 20.6 % of eligible patients had pathogenic mutations which is much higher than the western literature. However the VUS rates in Indian population are high 22% owing to a paucity of genetic data of Indian population. Multigene testing helps in identifying other genes asscociated with the Hereditary breast ovarian cancer criteria in addition to BRCA 1 & 2.


1995 ◽  
Vol 57 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Henry T. Lynch ◽  
Matthew J. Severin ◽  
Michael J. Mooney ◽  
Jane Lynch

2015 ◽  
Vol 25 (4) ◽  
pp. 650-656 ◽  
Author(s):  
Murray Joseph Casey ◽  
Chhanda Bewtra ◽  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Mark Stacey

ObjectiveThe aim of this study was to categorize and report endometrial cancers in mutation carriers from hereditary breast ovarian cancer families.MethodsOur Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutations in BRCA1 or BRCA2. Invasive cancers were registered in 101 mutation carriers with complete pathology reports. Efforts were made to secure diagnostic surgical pathology tissues for review. All records and available diagnostic slides were meticulously studied, and primary cancers were classified.FindingsEight malignancies were classified as primary endometrial cancers. Five of these were low- or intermediate-grade endometrioid carcinomas, and 3 were pure serous carcinomas or contained serous carcinoma elements mixed with high-grade endometrioid carcinoma. Breast cancers were diagnosed in 5 patients before and in 1 patient after endometrial carcinoma. Three endometrioid carcinomas were preceded by estrogen treatment, 2 for many years and the other for only 2 months, and 2 of the patients with serous carcinoma had been treated with tamoxifen.ConclusionsThe finding that 8 of gynecologic and peritoneal cancers in 101 mutation carriers were endometrial cancers with a smaller proportion of endometrioid carcinomas than reported in general populations is added to the current controversial literature on endometrial cancer, particularly regarding serous carcinomas, in hereditary breast ovarian cancer syndrome. Well-designed prospective programs for standardized surgical and pathologic handling, processing, and reporting are essential for working out the pathogenesis, true risks, and best management of this disease in carriers of deleterious BRCA1 and BRCA2 germline mutations.


2009 ◽  
Vol 15 (2) ◽  
pp. 155-162 ◽  
Author(s):  
Elissa M. Ozanne ◽  
Andrea Loberg ◽  
Sherwood Hughes ◽  
Christine Lawrence ◽  
Brian Drohan ◽  
...  

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