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Hereditary ovarian cancer: Beyond the usual suspects. February 13, 2012

Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, Uncategorized, uterine cancer, vaginal cancer.
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Hereditary ovarian cancer: Beyond the usual suspects.

Feb 2012

Pennington KPSwisher EM.


In the past, hereditary ovarian carcinoma was attributed almost entirely to mutations in BRCA1 and BRCA2, with a much smaller contribution from mutations in DNA mismatch repair genes. Recently, three new ovarian cancer susceptibility genes have been identified: RAD51C, RAD51D, and BRIP1. In addition, germline mutations in women with ovarian carcinoma have been recently identified in many of the previously identified breast cancer genes in the Fanconi anemia (FA)-BRCA pathway. While mutations in genes other than BRCA1 and BRCA2 are each individually rare, together they make up a significant proportion of cases. With at least 16 genes implicated in hereditary ovarian cancer to date, comprehensive testing forovarian cancer risk will require assessment of many genes. As the cost of genomic sequencing continues to fall, the practice of evaluating cancer susceptibility one gene at a time is rapidly becoming obsolete. New advances in genomic technologies will likely accelerate the discovery of additional cancer susceptibility genes and increase the feasibility of comprehensive evaluation of multiple genes simultaneously at low cost. Improved recognition of inherited risk will identify individuals who are candidates for targeted prevention. In addition, identifying inherited mutations in a variety of FA-BRCA pathway genes may aid in identifying individuals who will selectively benefit from PARP inhibitors.

Science Direct

Family History and Women With Ovarian Cancer: Is it Asked and Does it Matter?: An Observational Study. February 13, 2012

Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, Uncategorized, uterine cancer, vaginal cancer.
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Family History and Women With Ovarian Cancer: Is it Asked and Does it Matter?: An Observational Study.

Feb 2012

Lanceley AEagle ZOgden GGessler SRazvi KLedermann JASide L.


*UCL EGA Institute for Women’s Health, Department of Women’s Cancer Research, University College London; †Institute of Clinical Education, Warwick Medical School, and MedicalTeaching Centre, University of Warwick, Coventry; ‡Women’s Clinic, Southend University Hospital NHS Foundation Trust, Essex; and §Gynaecological Cancer Centre, University College London Hospital NHS Foundation Trust and ∥¶Cancer Research UK and UCL Cancer Trials Centre, UCL Cancer Institute, University College London, UK.



The objective of the study was to determine how many women in an ovarian cancer (OC) study cohort had a family history (FH) recorded in their case notes and whether appropriate action was taken on the basis of that FH.


This was a review of patient case-note data of women in a randomized controlled trial of follow-up after primary treatment for OC. Available case notes of 114 women recruited at 3 UK gynecologic cancer centers in a 2-year period between January 2006 and 2008 were examined. Case-note entries for the period from first hospital consultation to 2 years after completion of primary treatment were included. Outcome measures were (1) recording of an FH of cancer in the case notes, (2) whether appropriate action had been taken on the basis of the FH in those women with affected relatives, and (3) characterizing insufficient FH records.


Family history was not consistently recorded. Although FH was recorded in the majority of women, 14 women had no FH recorded. In 63 women, the FH was recorded as not significant, and in 15 cases, FH information was insufficient to complete a risk assessment. Twenty-two women had significant FH meeting criteria for specialist genetics referral. In 15 of these 22 cases, the relevant history suggestive of hereditary breast cancer and OC (due to BRCA1 or BRCA2 mutations) or Lynch syndrome had been documented, but no action was recorded, and its significance was not appreciated.


These data indicate that training in recognizing relevant FH is needed for clinicians looking after women with OC. Research is necessary to determine the barriers in taking and interpreting an FH and to determine the optimal time for broaching FH issues during a woman’s care pathway. This will improve the accuracy of FH recording and ensure families with OC have access to appropriate surveillance and genetic testing.

International Journal of Gynecological Cancer

Hereditary ovarian cancer February 13, 2012

Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, Uncategorized, uterine cancer, vaginal cancer.
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While this little article dates to 2009, it is just as relevant  today  with the ongoing research into finding any genetic causes for ovarian cancer:

Hereditary ovarian cancer.

Jan 2009

Russo ACalò VBruno LRizzo SBazan VDi Fede G.


Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, Università di Palermo, Palermo, Italy. lab-oncobiologia@usa.net


At least 10% of ovarian tumors are hereditary and associated with highly penetrant, autosomal, dominant genetic predisposition. Three clinical manifestations of hereditary ovarian cancer have been identified: site-specific ovarian cancer, hereditary breast and/or ovarian cancer (HBOC) and hereditary non-polyposis colorectal cancer (HNPCC) syndromes. BRCA germline mutations account for more than 90% of all hereditary epithelial ovarian tumors whereas most of the remaining 10% are caused by MLH1 and MSH2 mutations, which are susceptibility genes of HNPCC. Genetic testing is available for each of the three hereditary syndromes above mentioned. The recommendations for OC surveillance in high-risk women having a strong family history or BRCA mutation carriers include transvaginal pelvic ultrasound with color Doppler and serum CA125 every 6 months. Bilateral salpingo-oophorectomy appears to be effective to reduce the risk of ovarian cancer in BRCA mutation carriers. Hysterosalpingo-oophorectomy should be considered in HNPCC women who undergo surgery for colorectal carcinoma.


Keywords: Hereditary ovarian cancerBRCAHNPCCGenetic testingProphylactic surgery