Recommendations For Women Research Articles

Physician Practices in Response to Intimate Partner Violence in Southern India: Insights from a Qualitative Study

Health care providers in India are often the only institutional contact for women experiencing intimate partner violence, a pervasive public health problem with adverse health outcomes. This qualitative study was among the first to examine Indian primary care physicians' intimate partner violence practices. Between July 2007 and January 2008, 30 in-depth interviews were conducted with physicians serving low-to-middle income women aged 18–30 in southern India. A modified grounded theory approach was used for data collection and analysis. Study findings revealed a distinct subset of ‘physician champions’ who responded to intimate partner violence more consistently, informed women of their rights, and facilitated their utilization of support services. Findings also offered insights into physicians' ability to identify indications of intimate partner violence and use of potentially culturally appropriate practices to respond to intimate partner violence, even without training. However, physician practices were mediated by individual attitudes. Although not generalizable, findings offer some useful lessons which may be transferable for adaptation to other settings. A potential starting point is to study physicians' current practices, focusing on their safety and efficacy, as well as enhancing these practices through appropriate training. Further research is also needed on women's perspectives on the appropriateness of physicians' practices, and women's recommendations for intimate partner violence intervention strategies.

Abstract S4-7: Compliance with Mammographic Screening Guidelines from an Administrative Claims Database

Abstract BACKGROUND: Guidelines for breast cancer screening using mammography vary in terms of monitoring frequency and age at which screening should be performed. In November 2009, the US Preventive Services Task Force (USPSTF) modified their recommendations for women at average risk for breast cancer, now supporting first mammographic screening at age 50, with repeat mammograms every two years. The American Cancer Society and the Mayo Clinic continue to support yearly mammograms beginning at age 40. In two separate surveys performed after the USPSTF recommendations became public, 71% and 84% of women indicated an intention to undergo or continue mammographic testing during their 40's (Annals of Internal Medicine 2010; 152:531-532; USA Today 11/24/2009), but few studies have looked at actual screening frequency among women of different age groups. This study was performed to determine current pattern of testing as derived from an administrative medical claims database. METHOD: De-identified medical claims were reviewed from a 12-million member medical claims database at Medco Health Solutions, Inc. Claims for mammography for women 40 years of age and older eligible from January 2006 through December 2009 were reviewed. All women through age 64 had employer or health-plan based insurance coverage. Those 65 and older were covered through either an employer based retiree plan, or Medicare. Testing within each calendar year is reported. Annual testing was determined for women continuously eligible over the 4-year period. RESULTS: Among women 40-85 years old in any given year, 41-50% had a medical claim for a mammogram. Over the 4-year study (2006-2009), mean annual mammography rates were 41% (40-49 years old), 50.0% (50-64 years old), and 44% (65-85 years old). The percentage of women who were continuously eligible over the 4-year study period with any mammogram and with 1, 2, 3, or 4 or more mammograms over the 4-year study period are shown in the table below. CONCLUSIONS: Although surveys indicate that over 70% of women support mammographic screening between ages 40-49, these data suggest that even among an insured population, many women do not have claims evidence of even one mammogram in 4 years and almost half of women do not receive biannual or more frequent mammography. These data also indicate that additional efforts are needed to reach the HealthyPeople 2010 goal of at least 70% of women aged 40 years or older having a mammogram in the past two years. Citation Information: Cancer Res 2010;70(24 Suppl):Abstract nr S4-7.

Pharmacogenetics of Aromatase Inhibitors: Present Understanding and Looking to the Future

Clinicopathologic characteristics have traditionally played a predominant role in adjuvant therapy recommendations for women with breast cancer. Host genetic factors, which impact drug metabolism, drug transportation, and drug targets, may lead to a differential treatment-related outcome in breast cancer, but their role in treatment decision-making has only recently been recognized. Genetic polymorphisms in the CYP2D6 gene and pharmacologic inhibition of the enzyme lead to an altered tamoxifen metabolism, safety profile, and possibly reduced clinical benefit. Inter-individual response to therapy has also been observed with use of aromatase inhibitors, agents that have largely superseded tamoxifen in the treatment of post-menopausal hormone receptor–positive breast cancer. We review the available evidence regarding the impact of pharmacogenetic variation on the drug-response phenotype of the aromatase inhibitors.

Screening of Women at High Familial Risk of Breast Cancer

Evaluation of: Kuhl C, Weigel S, Schrading S et al.: Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J. Clin. Oncol. 28, 1450-1457 (2010). In the EVA trial, Kuhl et al. screened 687 women at high risk of breast cancer for up to 3 years with annual MRI. A total of 27 breast cancers were diagnosed, including 11 DCIS and two local recurrences. There were no interval cancers. This data suggests that MRI screening can be used to downstage breast cancers, but larger studies with longer follow-up periods are required to confirm these findings.

MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.

Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD.

The role of pharmacogenetics in selection of breast cancer treatment

Tumor characteristics have traditionally played a predominant role in adjuvant therapy recommendations for women with breast cancer. The role of host genetic factors, which impact drug metabolism, drug transportation, and possibly breast cancer outcomes, in treatment decision making has only recently been recognized. Genetic polymorphisms in the CYP2D6 gene and pharmacologic inhibition of the enzyme have been associated with altered tamoxifen metabolism, adverse event profile, and clinical benefit. Data from prospective studies should ideally be available before CYP2D6 genotype testing can be recommended for the general population. Inter-individual response to therapy has also been observed with use of the aromatase inhibitors, various chemotherapeutic agents, and other targeted therapies. This article reviews the available evidence regarding the impact of pharmacogenetic variation on the drug-response phenotype of these agents.

American Society of Clinical Oncology Clinical Practice Guideline Update on the Use of Pharmacologic Interventions Including Tamoxifen, Raloxifene, and Aromatase Inhibition for Breast Cancer Risk Reduction

PURPOSE To update the 2002 American Society of Clinical Oncology guideline on pharmacologic interventions for breast cancer (BC) risk reduction. METHODS A literature search identified relevant randomized trials published since 2002. Primary outcome of interest was BC incidence (invasive and noninvasive). Secondary outcomes included BC mortality, adverse events, and net health benefits. An expert panel reviewed the literature and developed updated consensus guidelines. Results Seventeen articles met inclusion criteria. In premenopausal women, tamoxifen for 5 years reduces the risk of BC for at least 10 years, particularly estrogen receptor (ER) -positive invasive tumors. Women < or = 50 years of age experience fewer serious side effects. Vascular and vasomotor events do not persist post-treatment across all ages. In postmenopausal women, raloxifene and tamoxifen reduce the risk of ER-positive invasive BC with equal efficacy. Raloxifene is associated with a lower risk of thromboembolic disease, benign uterine conditions, and cataracts than tamoxifen in postmenopausal women. No evidence exists establishing whether a reduction in BC risk from either agent translates into reduced BC mortality. Recommendations In women at increased risk for BC, tamoxifen (20 mg/d for 5 years) may be offered to reduce the risk of invasive ER-positive BC, with benefits for at least 10 years. In postmenopausal women, raloxifene (60 mg/d for 5 years) may also be considered. Use of aromatase inhibitors, fenretinide, or other selective estrogen receptor modulators to lower BC risk is not recommended outside of a clinical trial. Discussion of risks and benefits of preventive agents by health providers is critical to patient decision making.

Counseling and care: A Breast Cancer Awareness Training to improve participation and adherence to screening recommendations in women with a family history of breast cancer

1530 Background: BRCA1 or BRCA2 mutation carriers are at an increased lifetime risk to develop breast and ovarian cancer. In a substantial number of families with affected members the known susceptibility genes cannot be identified. According to the recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer, women with a hereditary predisposition for breast cancer should participate at an intensified surveillance program (ISP) including genetic counseling, risk estimation, BSE, CBE, BreastUS, MX, and MRI. Nonadherence might be influenced by cancer worryness, anxiety, health beliefs, and a lack of information about screening benefits.The aim of this investigation was to evaluate the impact of an indivualized Breast Cancer Awareness Training to improve the participation and adherence towards an ISP. Methods: Since 2005, an at-risk sample of 46 non-participating women (mean age 29 y; range 19–43 y) got an intensive breast cancer awareness training, including structured BSE, specific information about regular follow-up, screening advice, and radiological diagnostic procedures. To establish invidualized counseling and training particular needs (e.g., reasons for non-adherence, health beliefs and behaviours), risk perception, anxiety, and sociodemographic factors were evaluated by interviews and self-report questionnaires. The control group consisted of 38 participants of the ISP. Results: Breast cancer worry, anxiety, and lack of information about the benefits of screening programs were the main reasons for non-adherence. Within 3 months after the base counseling participation rates in MX (&gt;30J), BUS, MRI, and CBE reached 98%. The numbers remain consistent in a 2-year follow up. 80% of participants practice BSE monthly, and 46% reported changes in lifestyle regarding nutrition, obesity, and health beliefs. Conclusions: Our approach emphasizes importance of self confidence and awareness for participation at the ISP for women at high breast cancer risk. Individualized counseling, BSE, re-evaluation, and reinforcement sessions are correlated with changes in health beliefs and behaviours for enhancing participation and adherence in women with a family history of breast cancer. No significant financial relationships to disclose.

Low risk of multiple pregnancies in assisted reproductive technology (ART) for women over age 40

OBJECTIVE: Society for Assisted Reproductive Technology (SART) guidelines limit the number of embryos to be transferred in women younger than 40, with the goal of decreasing the rate of multiple pregnancies. However, there are no recommendations for women over the age of 40. We determined the rate of multiple pregnancies in this cohort of older in vitro fertilization (IVF) patients.DESIGN: Analysis of non-donor IVF/ICSI cycle outcomes at 2 university based fertility centers.MATERIALS AND METHODS: Outcomes for non-donor IVF/ICSI cycles performed in women aged 41 – 44 from 2004 to 2007 were analyzed. Clinical pregnancy rate (CPR), defined as a fetal heart beat detected by ultrasound, spontaneous abortion (SAB), live birth rate (LBR), and multiple pregnancy rates were considered for analysis.RESULTS: 363 cycles in patients aged 41-42 and 192 cycles in patients aged 43-44 were initiated, and outcomes are summarized in the table. While the average number of embryos transferred was 3.6 in each age group, the majority of live births were singleton (82% and 77% for age 41-42 and 43-44 respectively), and the chance of a multiple gestation live birth from cycle initiation was 2.5% and 1.6% for age 41-42 and 43-44 respectively. SAB rate in both age groups was 35%.Tabled 141 - 4243 - 44Cycles363192Transfers235149Cycles with no transfer128 (35.3%)43 (22.4%)No. embryos transferred3.63.6CPR (%)21.210.4SAB (%)35.135.0LBR (%)13.86.8- % singleton8277- % twin1623- % triplet20Singleton LBR / transfer (%)17.46.7Twin LBR / transfer (%)3.42.0Triplet LBR / transfer (%)0.40.0Multiple pregnancy LBR / cycle start (%)2.51.6 Open table in a new tab OBJECTIVE: Society for Assisted Reproductive Technology (SART) guidelines limit the number of embryos to be transferred in women younger than 40, with the goal of decreasing the rate of multiple pregnancies. However, there are no recommendations for women over the age of 40. We determined the rate of multiple pregnancies in this cohort of older in vitro fertilization (IVF) patients. DESIGN: Analysis of non-donor IVF/ICSI cycle outcomes at 2 university based fertility centers. MATERIALS AND METHODS: Outcomes for non-donor IVF/ICSI cycles performed in women aged 41 – 44 from 2004 to 2007 were analyzed. Clinical pregnancy rate (CPR), defined as a fetal heart beat detected by ultrasound, spontaneous abortion (SAB), live birth rate (LBR), and multiple pregnancy rates were considered for analysis. RESULTS: 363 cycles in patients aged 41-42 and 192 cycles in patients aged 43-44 were initiated, and outcomes are summarized in the table. While the average number of embryos transferred was 3.6 in each age group, the majority of live births were singleton (82% and 77% for age 41-42 and 43-44 respectively), and the chance of a multiple gestation live birth from cycle initiation was 2.5% and 1.6% for age 41-42 and 43-44 respectively. SAB rate in both age groups was 35%.

Management recommendations for women at increased familial risk for breast cancer: Results of a prospective national multimodality cohort study

1500 Background: Current national guidelines recommend mammography (Mx), with or without ultrasound (US), and annual MRI, starting at age 30 or younger, for screening women at increased familial ri...

Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

The study objective was to compare breast cancer screening practices, lifestyle behaviors and psychological distress among 640 women initiating BRCA1/2 testing to those among 9,498 similarly-aged women from the general population. Health behaviors and psychological distress were reported in a self-administered questionnaire at pre-test genetic counseling. Regression analyses indicate that high-risk women were more frequently performing breast cancer screening and, in the case of those previously diagnosed with cancer, were more likely to be non-smokers and physically active than women from general population. However, women initiating BRCA1/2 testing were significantly more distressed than controls. Globally, high-risk women seemed to be well informed about recommendations for women who are at high risk and to have access to screening adapted to their risk level. Given their significant psychological distress, providing minimal psychosocial support to all women undergoing BRCA1/2 testing at pre-test genetic counseling is relevant.

Women Domestic Violence Offenders: Lessons of Violence and Survival

SUMMARY This qualitative study examined female domestic violence offenders via structured interviews with 13 women referred for treatment in batterers' intervention programs in a major metropolitan area. The majority of women were victims of childhood abuse and/or witnessed violence between their parents. Most reported feeling cut-off from their mothers, left their childhood homes before the age of 18, and experienced violence at the hands of a prior partner. Women's motivations for current violence were primarily in self-defense or in retaliation for their partners' physical abuse, and secondarily in response to partner emotional abuse, control tactics, to get attention/be heard, or to express anger. A minority sought to control their partners. Differential treatment considerations and recommendations for women versus men batterers are included.

Dietary Intake of Hospitalized, Activity-Restricted Pregnant Women

Approximately 18 % of pregnant women are activity restricted (AR) in hospital each year for high-risk pregnancies, with many of these women carrying multiple fetuses. There are no specific Institute of Medicine Dietary Reference Intakes (DRI) recommendations for women with multi-fetal pregnancies (MFP). Current evidence suggests that women with MFP may have additional need for energy, essential fatty acids (EFAs), iron, calcium, vitamins D, C, and folic acid. Given the lack of specific guidelines for women with MFP, it has been suggested that the use of current DRI recommendations for singleton pregnancies is the prudent course of action for managing diet in these women. PURPOSE: The purpose was to a) compare dietary intake between women with singleton and MFP who were AR in hospital for a high-risk pregnancy, as well as b) determine if the women with MFP were meeting current DRI recommendations for a singleton pregnancy. METHODS: Dietary intake was analyzed over 7 days in hospitalized AR pregnant women (n=14). All subjects were in the 3rd trimester, and had been AR for at least 3 days. All women in the MFP group (n=5), and 7/9 women in the singleton pregnancy group were taking daily micronutrient supplementation. Mann-Whitney U tests were used to compare groups. Mean intake of energy and nutrients by the MFP group was compared to DRI recommendations for singleton pregnancy using one sample t-tests. RESULTS: There were no significant differences between the singleton and MFP groups, with the exception of the MFP group having a greater intake of protein (p=0.03). There were also no significant differences between mean MFP group intake and DRI recommendations for energy, linolenic acid, iron, vitamin C and folic acid. The MFP group had a significantly higher (p<0.05) intake of protein, calcium and vitamin D, compared to DRI recommendations, while significantly lower (p<0.05) intake of linoleic acid. CONCLUSION: AR women with MFP do not have significantly greater intake of energy and nutrients compared to AR women with singleton pregnancies. Women with MFP may benefit from increased intake of high energy foods, and those containing linoleic acid (vegetables, fruits, nuts, grains, and seeds).

American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography

New evidence on breast Magnetic Resonance Imaging (MRI) screening has become available since the American Cancer Society (ACS) last issued guidelines for the early detection of breast cancer in 2003. A guideline panel has reviewed this evidence and developed new recommendations for women at different defined levels of risk. Screening MRI is recommended for women with an approximately 20-25% or greater lifetime risk of breast cancer, including women with a strong family history of breast or ovarian cancer and women who were treated for Hodgkin disease. There are several risk subgroups for which the available data are insufficient to recommend for or against screening, including women with a personal history of breast cancer, carcinoma in situ, atypical hyperplasia, and extremely dense breasts on mammography. Diagnostic uses of MRI were not considered to be within the scope of this review.

Menstrual function and dysfunction

The standard recommendation for women wanting to become pregnant after breast cancer treatment is to wait two years. Angela Ives and colleagues studied (doi: 10.1136/bmj.39035.667176.55) 62 Australian women with breast cancer who subsequently conceived. They found that, for women with localized disease, conception as early as six months after completing treatment was unlikely to reduce survival. The two year recommendation may be valid for women with systemic disease or who are still receiving treatment. In an accompanying editorial (doi: 10.1136/bmj.39098.376181.BE), Emily Banks and Gillian Reeves state that actually very few women …

Nutritional advice before and during pregnancy

Claire Williamson outlines the current dietary recommendations for women before and during pregnancy, and considers some of the evidence behind them.

New recommendations for the periodic well-woman visit: impact on counseling

Since 2000, the recommendations for women's health care have undergone considerable changes that have prompted a modification in terminology from the “annual examination” to the “periodic well-woman visit.” A pelvic examination is not required before prescribing hormonal contraception, selected women 30 years or older may receive less frequent cytological testing and teaching breast self-examination is no longer recommended unless the patient requests it. Counseling will be needed to reassure women that these changes are based on sound scientific evidence. The periodic well-woman visit provides an opportunity for ongoing contraceptive counseling. The expanding array of contraceptive choices necessitates counseling that focuses on methods that are most appropriate for the individual. In addition to the changes in screening recommendations, increased utilization of ancillary staff, self-administered questionnaires and other time-saving strategies to gather information before the patient sees the health care provider can increase the time available for counseling within the time constraints of an office visit.

Mothers on the margins: Implications for eradicating perinatal HIV

Tactics aimed at reducing perinatal transmission of HIV are proving ineffective at accomplishing complete eradication: a group of women with HIV remain at very high risk for transmitting the virus to their newborns. This study engaged a uniquely high-risk group of HIV-infected mothers as expert informants on childbearing with HIV to inform strategies to eradicate perinatal HIV transmission. The sample draws from an Illinois Department of Children and Family Services (DCFS) database of 1104 HIV-seropositive women with children in protective services between 1989 and 2001. Of these, 32 women knew their HIV-positive status and gave birth to at least two children after 1997 (zidovudine widely implemented as standard of care). Twelve were accessible and consented to participate. Three others, currently pregnant, also participated. Fifteen interviews were completed. The 15 women had given birth to 78 children (9 HIV-infected), fathered by 62 men. Respondents were severely socioeconomically marginalized. They were aware of their HIV status and the benefits of prophylaxis, most desired healthy babies to parent, and most delivered their babies in hospitals equipped to provide adequate prophylaxis. Yet most received inadequate or no prenatal care and did not disclose their HIV status at delivery. Women indicated that denial and substance use were the primary intrinsic barriers and disrespectful treatment was the primary extrinsic barrier to disclosure and care. Women's recommendations about eradication of perinatal HIV transmission emphasized the problem of substance use, the need for private and thorough communication with medical and DCFS personnel, and the need for positive social relationships to enable HIV positive mothers to engage in care. Attention to potent social and institutional barriers that impair the ability of the most marginalized women to disclose their HIV status and accept care is essential to realize eradication of perinatal transmission.

Endometrial cancer in women with HNPCC

Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC) is a cancer susceptibility syndrome. Germline mutations in mismatch repair genes (MLH1, MSH2, or MSH6) account for a majority of families with HNPCC. With the availability of clinical genetic testing, the estimates of cancer risk have become more precise. Women with HNPCC have a 40–60% lifetime risk for endometrial cancer and a 40–60% lifetime risk for colon cancer. In two recent studies, risk of endometrial cancer exceeded risk of colon cancer(1,2). While much is known about HNPCC-associated colon cancer, considerably less is known about HNPCC-associated endometrial cancer. Earlier studies have suggested that HNPCC-associated endometrial cancers are predominantly low grade and of endometrioid histology. However, these data were obtained from women who fulfilled clinical criteria for HNPCC, prior to the availability of genetic testing. A recent study examined a small series of endometrial cancers from patients with known germline mutations in MLH1 or MSH2 and reported an association with poorly differentiated tumors and lymphangioinvasive growth(3). We are currently conducting a pathologic review of a larger series of endometrial cancers in known mutation carriers and preliminarily note a wide spectrum of endometrial cancers including papillary serous and clear cell tumors. Of 47 tumors that were reviewed, 7 (14%) were nonendometrioid. Of the 40 tumors with endometrioid histology, 17 (42.5%) were Grade 1, 16 (40%) were Grade 2, and 7 (17.5%) were Grade 3. In our studies as well as others, tumor loss of staining by immunohistochemistry of MLH1 or MSH2 correlates well with the patient's known germline mutation. However, microsatellite instability patterns differ between HNPCC-associated endometrial and colon cancers, with HNPCC-associated endometrial cancers having a lower proportion of unstable loci than HNPCC-associated colon cancers. It is unclear whether HNPCC-associated endometrial cancers progress through a step-wise progression from normal endometrium to complex atypical hyperplasia to endometrial cancer. Clearly, understanding the natural history of HNPCC-associated endometrial cancer is necessary in order to formulate reasonable screening and prevention programs. Current screening guidelines include an annual transvaginal ultrasound and endometrial biopsy. We are currently conducting an NCI funded chemoprevention trial for this cohort, examining both Depo-Provera and the oral contraceptive. A secondary endpoint of this study is to establish the point estimate of endometrial abnormalities in asymptomatic women with HNPCC. Of 20 women enrolled thus far, 2 have had complex atypical hyperplasia on baseline endometrial biopsy despite normal ultrasound evaluation of their endometrial lining. Both have chosen to undergo hysterectomy, and both had complex atypical hyperplasia admixed with Grade 1 cancer on final pathology. Clearly endometrial cancer screening and prevention recommendations for women with HNPCC will continue to evolve as more information on the natural history of this disease develops.

Breast Cancer Gene (BRCA1, BRCA2)

Most women with breast cancer do not have a familial history of the disease in a first degree relative and hereditary breast cancer caused by a mutant gene passed from parents to their children is rare; only 5-10% of breast cancers are estimated to be attributable to the inheritance of rare highly penetrant, germline mutations of genes, although this proportion is at younger ages of diagnosis. Mutations in BRCA1 and BRCA2 are responsible for most of these inherited breast cancers. Hereditary predisposition to breast cancer is responsible for autosomal-dominant transmission. Children of parents with a BRCA1 or BRCA2 mutation have a 50% chance of inheriting gene mutation. Hereditary breast cancer is characterized by early age at onset than sporadic cases, bilaterality, vertical transmission through both maternal and paternal lines, and familial association with tumors of other organs, particularly the ovary and prostate gland. Of the several hundred mutations in these genes, most lead to a frameshift resulting in missing or nonfunctioning proteins. Most of the BRCA1 an BRCA2 mutations are predicted to produce a truncated protein product, supporting the hypothesis that they are tumor suppressor genes. Progress in determining the function of BRCA1 an BRCA2 suggests that they are involved in two fundamental cellular processes, DNA damage repair and transcriptional regulation. The assessments of familial cancer risk are extremely varied, including families from different ethnic backgrounds with greater or less numbers of affective relatives at varying ages. And estimates of penetrance for BRCA1 and BRCA2 mutations range from 36% to 85% for breast cancer, and 16% to 60% for ovarian cancer. Tliree specific mutations in these genes accounted for 90% of the BRCA1 and BRCA2 variants within Ashkenazi Jewish population. For molecular correlations, BRCA1 cancers were shown to be more often estrogen receptor negative, more high grade tumors and more frequent mutations in p53 than nonhereditary cancers. The risk for breast cancer in female BRCA2 mutation earners appeal's similar to that for BRCA1 carriers, but the age of onset is shifted to an older age distribution. The growing body of data elucidating the functions of these genes suggest a gatekeeper role, characterized by interactions with other genes in the regulations of the cell cycle and DNA repair and may provide novel opportunities to develop genotype-based therapeutic approaches to treatment and prevention. Surveillance recommendations for women with germline BRCA mutations are necessary and women are encouraged to leam and practice breast self-examination beginning at age 18 and to begin annual mammogram screening at age 25. A number of women with BRCA mutations may consider undergoing surgical procedures (mastectomy and salpingooophorectomy) in attempt to reduce their risk. Nonsurgical options (tamoxifen medication) tor the prevention of hereditary breast cancer are currently limited.The choice of whether to undergo genetic testing is difficult on and should be made only after extensive consultation with a professional who is well versed in the counseling and management of families at hereditary risk. And psychological consequences of testing and the potential impact on family dynamics ai*e important considerations that must be individually addressed.The identification and location of these breast cancer genes will now permit further investigation of the precise role they play in cancer progression and will allow us to determine the percentage of total breast cancer caused by the inheritance of mutant genes. This in turn will ultimately enrich our understanding of all breast cancer, sporadic as well as hereditary, and will facilitate the identification of high-risk individuals. Most of above mentioned data are based on studies of European ancestry. It is needed to study many aspects of Korean breast cancer including age specific mutation prevalence, penetrance, molecular correlation, pathology, prognosis, surveillance and prevention options for women with BRCA mutations.In genetic studies, we need to examine the psychological and clinical impact of using gene-based diagnostic tests in families with heritable forms of breast cancer, assess public knowledge and attitudes about genetic testing for cancer risks and gather information needed to establish clinical protocols for the optimum use of these risk assessment technologies in the future.Furthermore, at least half of hereditary breast cancers are not linked to these genes. Remaining cases are not caused by another single, unidentified gene, but rather by many genes, each accounting for a small fraction of breast cancers.