Cancer genetics and reproduction

Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK. <>
Best practice & research. Clinical obstetrics & gynaecology (Impact Factor: 1.92). 10/2009; 24(1):3-18. DOI: 10.1016/j.bpobgyn.2009.08.002
Source: PubMed


Cancers of the reproductive organs (i.e., ovaries, uterus and testes), like other cancers, occur as a result of a multi-stage interaction of genetic and environmental factors. A small proportion of cancers of the reproductive organs occur as part of a recognised cancer syndrome, as a result of inheritance of mutations in highly penetrant cancer susceptibility genes (e.g., BRCA1, BRCA2, MLH1 or MSH2). Recognition of individuals and families with inherited cancer predisposition syndromes and individuals at high risk due to familial cancer clustering is fundamentally important for the management and treatment of the current cancer and for future prevention of further cancers for the individual and their extended family.

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    ABSTRACT: Obesity is strongly associated with endometrial and breast cancers; further, obese women are less likely to undergo recommended cancer screening. The objective was to determine the preoperative practices of bariatric surgeons with regard to gynecologic assessment and cancer screening. A 28-question survey was mailed to 1,503 US bariatric surgeons to assess self-reported perceptions of gynecologic cancer screening, preoperative evaluation of female patients, and gynecologic oncology awareness and knowledge. Of 1,503 surgeons, 274 responded (18%) and 11 incomplete surveys were excluded, leaving 263 (17%) for analysis. Mean surgeon age was 46.8 years. Surgeons averaged 13.9 years postresidency and were predominantly male (89%). Eighty percent obtained gynecologic histories, but 56% and 49%, respectively, did not require Pap tests or mammograms before bariatric surgery. Only 21% had ever referred a patient for endometrial evaluation. Female surgeons were more likely to obtain menstrual and cancer-related family histories (p < 0.05). Surgeons who graduated from residency 10 or more years ago were more likely to obtain a pregnancy history (p = 0.006). One-fifth of surgeons reported that they do not consistently counsel their patients about increased cancer risks due to obesity. Last, surgeons correctly identified the following signs and risk factors of endometrial cancer at variable rates: postmenopausal bleeding (99%), obesity (97%), irregular or heavy periods (69%), hereditary nonpolyposis colorectal cancer (21%), infertility (20.2%), diabetes (14.1%), and hypertension (4.9%). Given the massive increases in morbid obesity and bariatric surgery in women, surgeons could serve a vital role in educating patients about both gynecologic and nongynecologic malignancy risks. With appropriate referral for cancer screening, patient outcomes could improve.
    No preview · Article · Aug 2010 · Journal of the American College of Surgeons
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    ABSTRACT: Germline mutations in the BRCA1 and BRCA2 genes highly predispose to breast and ovarian cancers and are responsible for a substantial proportion of familial breast and ovarian cancers. No female individuals from families from Morocco affected by breast cancer with mutations of these genes have previously been reported, and clinicians in Morocco are unaccustomed to dealing with healthy female individuals carrying mutations in the BRCA genes. This study aimed to report the initial experience of a group of Moroccan investigators carrying out predictive genetic testing to detect a known familial mutation in healthy Moroccan females with a high risk of developing breast cancer and to introduce supervision of these asymptomatic female carriers as a new approach in the prevention and early diagnosis of breast and ovarian cancers in Morocco. Presymptomatic diagnosis was carried out using DNA genetic testing in 5 healthy Moroccan female individuals from three families with an elevated risk of developing breast cancer. These are the first Moroccan families reported to be affected by breast cancers associated with BRCA mutations. Presymptomatic diagnosis was carried out for breast cancer in 5 female individuals from three Moroccan families with BRCA mutations. Two of the families are the first reported incidence of the founder mutation Ashkenazi BRCA1-185_186delAG in Moroccan patients. The third family carried the known BRCA2 mutation c.5073dupA/p.trp1692metfsX3. We tested the presence of these mutations in 5 asymptomatic healthy females from the three families. Two sisters from family 1 carried the BRCA1-185_186delAG mutation, whereas the third female individual from family 2 carried the c.5073dupA/p.trp1692metfsX3 mutation. However, one healthy female individual and her mother from family 3 did not carry the familial mutation of the BRCA1 gene. This study found BRCA mutations in three asymptomatic subjects, suggesting that this is the first step towards the development of persistent medical monitoring of females from families with a history of breast and ovarian cancers. Consequently, it is crucial for oncologists in Morocco to initiate the supervision of healthy female individuals with genetic defects which may lead to hereditary cancers.
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    No preview · Article · May 2013
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