DOCSLIB.ORG

Understanding Hereditary Breast & Ovarian Cancer

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Understanding Hereditary Breast & Ovarian Cancer Understanding Hereditary Breast & Ovarian Cancer – the BRCA genes understanding hereditary breast & ovarian cancer – the brca genes 3 Contents Introduction Introduction ___________________________________________________________ 3 The purpose of this booklet is to review the information How are cancer & genes related? _________________________________________ 4 about hereditary breast and ovarian cancer as discussed in What is known about hereditary cancer? ___________________________________ 5 a genetic counselling session. You may also wish to use this Is my family at risk? _____________________________________________________ 6 booklet to help you share information with other family members. The BRCA1 and BRCA2 genes _____________________________________________ 7 What happens if there is a mutation in a BRCA gene? _________________________ 7 This booklet was prepared by staff of the Hereditary Cancer What happens if a person inherits a BRCA gene mutation? ____________________ 8 Program, based on information that was current at the time What are the risks for the children of a BRCA gene mutation carrier? ___________ 9 of printing. What is the risk of cancer for a BRCA gene mutation carrier? __________________10 What is genetic testing? _________________________________________________ 11 Words that may be new to you are highlighted and are Who can have BRCA genetic testing? ______________________________________ 11 defined in the Glossary on page 28. How is BRCA genetic testing done? ________________________________________12 Results of BRCA genetic testing ___________________________________________13 Cancer screening _______________________________________________________14 What about surgery to reduce cancer risks? ________________________________16 Taking care of your health _______________________________________________18 Issues to consider ______________________________________________________19 What are some pros and cons of genetic testing? ____________________________21 How to contact the Hereditary Cancer Program ____________________________ 22 Resources ____________________________________________________________ 23 - Peer Support Groups ______________________________________________ 23 - Decision Guides __________________________________________________ 24 - Books __________________________________________________________ 24 - Videos __________________________________________________________ 25 Acknowledgments - Websites ________________________________________________________ 26 We are grateful to the many people who Glossary _____________________________________________________________ 28 provided such valuable feedback as this booklet developed, and to the BC Cancer Appendix: What are DNA, chromosomes and genes? ________________________ 30 Agency Multimedia Services Department Notes_________________________________________________________________31 for design, layout and illustration. 4 understanding hereditary breast & ovarian cancer – the brca genes understanding hereditary breast & ovarian cancer – the brca genes 5 How are cancer & genes related? What is known about hereditary cancer? Each gene has a specific function in the body. Some genes control cell About 5-10% of all cancer cases (less than 1 in 10) are thought to be division. When mutations occur in these genes, a cell may begin to due to an inherited gene mutation. That means that most cancer is not divide without control. Cells that divide when they are not supposed hereditary. to may eventually become a cancer. See Appendix on page 30 for more information about genes, chromosomes and DNA. 10 people with cancer All cancer is genetic, most is not hereditary All cancers are the result of gene mutations. Mutations may be caused Hereditary cancer by aging, exposure to chemicals, radiation, hormones or other factors in the body and the environment. Over time, a number of mutations may occur in a single cell, allowing it to divide and grow in a way that Research has found some of the genes that help to explain specific becomes a cancer. This usually takes many years, and explains why most patterns of hereditary cancer. Other genes will be identified in the future. cancers occur at a later age in life. Because people are not born with these acquired gene mutations, they cannot pass them on to their children. A small number of cancers are hereditary. This means that they are related to a specific gene mutation that is passed down (inherited) in a family. A person who is born with a mutation has it in every cell in his/her body, including some of the eggs or sperm. This means it may be passed down to the next generation. Individuals who inherit such gene mutations have a higher risk of developing certain forms of cancer compared to the general population. Inherited gene mutations help to explain why in some families, we see more people than expected with certain kinds of cancer. Hereditary 5 - 10% Familial 20 - 25% Sporadic 70 - 75% 6 understanding hereditary breast & ovarian cancer – the brca genes understanding hereditary breast & ovarian cancer – the brca genes 7 Is my family at risk? The BRCA1 and BRCA2 genes The history of cancer in your close relatives is a clue to the chances of BRCA is an abbreviation for breast cancer. BRCA1 and BRCA2 were the hereditary breast/ovarian cancer. Close relatives include your: children, first two genes discovered to be responsible for some hereditary breast brothers, sisters, parents, aunts, uncles, grandchildren, and grandparents, cancer and some hereditary ovarian cancer. on one side of the family. History of cancer in cousins and more distant relatives may also be important. An inherited mutation in the BRCA1 or BRCA2 genes is more likely if at least 1 of the following features can be confirmed in your family: ☐ A woman with breast cancer diagnosed at age 35 or younger ☐ A woman with ovarian cancer ☐ A woman with breast cancer and ovarian cancer Everyone is born with two copies of BRCA1 and two copies of BRCA2, ☐ A woman with 2 or more separate breast cancers, if the 1st diagnosis one copy of each gene from their mother and one copy of each gene from was at age 50 or younger their father. These genes are found in every cell of the body, but are most ☐ A man with breast cancer and a close relative with breast cancer or important in breast cells and ovary cells. Because BRCA1 and BRCA2 ovarian cancer work in the same way, we will refer to them as BRCA genes in most of this booklet. Where there are specific differences, the genes will be ☐ A woman with breast cancer and a close relative with ovarian cancer described separately. ☐ 2 closely related women with breast cancer, both diagnosed at age 50 or younger A BRCA gene is the “code” to make a BRCA protein. This protein’s ☐ 3 closely related women with breast cancer, at least one of whom was function is to control the division of cells in the breasts and ovaries. The diagnosed at age 50 or younger protein acts like a traffic signal; it allows breast cells to divide during puberty (green light), and stops them from dividing at other times (red ☐ Ashkenazi (European) Jewish heritage and some family history of light). breast cancer or ovarian cancer Notes: What happens if there is a mutation in a BRCA gene? Breast cancer – does not include LCIS (lobular carcinoma in situ) Because we have two copies of every gene, a mutation in one copy of a Ovarian cancer – includes fallopian tube and primary peritoneal cancers. BRCA gene in a breast or ovary cell does not cause a problem; the other Pathology reports are needed to confirm the type of ovarian cancer copy can still produce the protein to control cell growth. A mutation because some of the less common types are not associated with inherited must occur in both copies of the same BRCA gene in the same cell for the BRCA1/2 mutations. control to be lost and a cancer to develop. 8 understanding hereditary breast & ovarian cancer – the brca genes understanding hereditary breast & ovarian cancer – the brca genes 9 What happens if a person inherits a BRCA gene What are the risks for the children of a BRCA gene mutation? mutation carrier? This person is born with a mutation in one copy of a BRCA gene Remember that we inherit one copy of each of our genes from each and this mutation is present in every cell of the body. The other copy of parent, and we pass on one copy of each of our genes to our children. This that gene is normal and is able to “do its job”. This person is a BRCA gene means that every time a carrier has a child, either the normal copy of the mutation carrier. gene or the gene with the mutation can be passed on. As shown below, each child has a 50/50 chance to inherit the gene mutation. As a person ages, DNA mutations occur by chance, in different genes, in different cells. A woman who is born with 2 normal copies of the BRCA Non-carrier parent Carrier parent genes in every cell has to acquire a mutation in both copies of the same BRCA gene in the same breast or ovary cell for a cancer to develop. This is what happens in sporadic cancer. Sporadic Cancer Cancer Hereditary Cancer Non-carrier child Carrier child Cancer Normal gene Gene mutation Non-inherited mutation Inherited mutation A child who inherits 2 normal A child who inherits the mutation If a mutation occurs by chance in the normal copy of a BRCA gene in a copies is not a carrier, does not is a carrier, and has an increased breast or ovary cell when a woman is a BRCA mutation carrier, the cell have increased risk for cancer, and risk of being diagnosed with no longer has a working copy of that gene. The normal BRCA protein cannot pass the mutation on to certain types of cancer over his/ his/her children. her lifetime (see page 10). will not be made and a cancer may develop. That helps to explain why a woman who inherits a BRCA gene mutation is much more likely to be diagnosed with breast cancer or ovarian cancer than is a non-carrier. The way we inherit genes explains why it is important to look at the Hereditary cancer is also more likely to be at a younger age than the same history of cancer on both sides of a family.
Load more

Recommended publications
  • BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives
    cancers Review BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives Eleonora Molinaro, Kalliopi Andrikou, Andrea Casadei-Gardini * and Giulia Rovesti Department of Oncology and Hematology, Division of Oncology, University of Modena and Reggio Emilia, 41121 Modena, Italy; [email protected] (E.M.); [email protected] (K.A.); [email protected] (G.R.) * Correspondence: [email protected] Received: 10 October 2020; Accepted: 11 November 2020; Published: 12 November 2020 Simple Summary: BRCA gene mutations are progressively gaining more attention in the context of gastrointestinal malignancies, especially in pancreatic cancer where their identification can have both therapeutic and surveillance relevance. Abstract: A strong association between pancreatic cancer and BRCA1 and BRCA2 mutations is documented. Based on promising results of breast and ovarian cancers, several clinical trials with poly (ADP-ribose) polymerase inhibitors (PARPi) are ongoing for gastrointestinal (GI) malignancies, especially for pancreatic cancer. Indeed, the POLO trial results provide promising and awaited changes for the pancreatic cancer therapeutic landscape. Contrariwise, for other gastrointestinal tumors, the rationale is currently only alleged. The role of BRCA mutation in gastrointestinal cancers is the subject of this review. In particular, we aim to provide the latest updates about novel therapeutic strategies that, exploiting DNA repair defects, promise to shape the future therapeutic scenario of GI cancers. Keywords: BRCA1; BRCA2; gastrointestinal cancers; HRD; pancreatic cancer; Olaparib; PARP inhibitors; surveillance 1. Introduction BRCA1 and BRCA2 are famous tumor susceptibility genes. They encode for proteins playing a crucial role in the correct repair of damaged DNA. Indeed, these genes are key components of the homologous recombination (HR) pathway [1].
    [Show full text]
  • Genetic Testing for BRCA1 and BRCA2: Information for Texas Health Care Professionals
    Genetic Testing for BRCA1 and BRCA2: Information for Texas Health Care Professionals How common are BRCA1 and BRCA2 mutations in the general population? Inherited mutations in BRCA1 and BRCA2 are relatively uncommon in the general population. The carrier frequency is estimated to range from 1 in 300 to 1 in 800.1,3 Certain ethnic groups have been shown to have a higher carrier frequency (i.e., 1 in 40 for individuals of Ashkenazi Jewish descent). What percentage of breast and ovarian cancer cases are estimated to be caused by BRCA1 and BRCA2 mutations? Five to 10 percent of all breast cancer cases and up to 14 percent of all ovarian cancer cases are thought to be caused by BRCA1 and BRCA2 mutations.1,2,3,4 Can BRCA1 and BRCA2 mutations be inherited from either side of the family? Yes, either parent can pass along a BRCA1 or BRCA2 mutation. Therefore, it is important for clinicians to obtain a complete cancer history on both the maternal and the paternal sides of the family when assessing genetic risk.4 Which patients should I consider referring to a genetic counselor for risk assessment and to discuss the option of genetic testing for BRCA1 and BRCA2 mutations? Most individuals do not have a mutation in the BRCA1 or BRCA2 gene. While specific indications for genetic counseling and testing vary among professional organizations, certain aspects of your patient’s personal and/or family history may increase his or her likelihood of carrying a BRCA1 or BRCA2 mutation. The indications below are to be used as a guide and are not a substitute for clinical judgment.
    [Show full text]
  • BRCA1 and BRCA2 in Men
    BRCA1 and BRCA2 in Men Everyone has BRCA1 and BRCA2 genes. These genes help repair damage to the DNA within cells. However, some individuals inherit a mutation in one of their BRCA genes, which increases their risk for certain cancers, including breast (female and male), ovarian, pancreatic and prostate cancers, as well as melanoma. Those who test positive for a gene mutation have options available to lower and manage their cancer risks. Man can carry BRCA1 or BRCA2 gene mutations and can be at increased risk for certain cancers. While cancer risks in male BRCA mutation carriers are not as dramatically elevated as those of female BRCA mutation carriers, cancer risk management and early detection are crucial. It is important for both men and women to remember that a family history of breast, ovarian, prostate or pancreatic cancers on their father’s side of the family may indicate a hereditary gene mutation. Many people mistakenly believe a family history of breast or ovarian cancer only matters on their mother’s side of the family. Men can inherit a BRCA gene mutation from their mother or father and can pass on their BRCA gene mutation to their male and female children. Medical management for men with BRCA1/2 mutations changes at age 35–40. Starting at age 35, male BRCA mutation carriers should begin yearly clinical breast exams with a physician. At age 40, prostate cancer screenings are recommended for BRCA2 carriers and considered for BRCA1 carriers. Men with a BRCA mutation and a family history of pancreatic cancer or melanoma should speak to a physician to develop a personalized screening plan for those cancers.
    [Show full text]
  • Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Evidence Synthesis
    Evidence Synthesis Number 37 Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Evidence Synthesis Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 540 Gaither Road Rockville, MD 20850 www.ahrq.gov Contract No. 290-02-0024 Task Order No. 2 Technical Support of the U.S. Preventive Services Task Force Prepared by: Oregon Evidence-based Practice Center Portland, Oregon Investigators Heidi D. Nelson, MD, MPH Laurie Hoyt Huffman, MS Rongwei Fu, PhD Emily L. Harris, PhD, MPH Miranda Walker, BA Christina Bougatsos, BS September 2005 This report may be used, in whole or in part, as the basis of the development of clinical practice guidelines and other quality enhancement tools, or a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied. AHRQ is the lead Federal agency charged with supporting research designed to improve the quality of health care, reduce its cost, address patient safety and medical errors, and broaden access to essential services. AHRQ sponsors and conducts research that provides evidence-based information on health care outcomes; quality; and cost, use, and access. The information helps health care decisionmakers—patients and clinicians, health system leaders, and policymakers—make more informed decisions and improve the quality of health care services. Preface The Agency for Healthcare Research and Quality (AHRQ) sponsors the development of Systematic Evidence Reviews (SERs) and Evidence Syntheses through its Evidence-based Practice Program. With guidance from the U.S.
    [Show full text]
  • ACOG: Practice Bulletin for Hereditary Breast and Ovarian Cancer
    ACOG PRACTICE BULLETIN Clinical Management Guidelines for Obstetrician–Gynecologists NUMBER 182, SEPTEMBER 2017 (Replaces Practice Bulletin Number 103, April 2009) Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology. This Practice Bulletin was developed by the American College of Obstetrician and Gynecologists’ Committee on Practice Bulletins–Gynecology and Committee on Genetics in collaboration with Susan C. Modesitt, MD, and Karen Lu, MD, and by the Society of Gynecologic Oncology in collaboration with Lee-may Chen, MD, and C. Bethan Powell, MD. Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by mul- tiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identifica- tion of those women who are at an increased risk of inherited breast cancer and ovarian cancer. For these individuals, screening and prevention strategies can be instituted to reduce their risks. Obstetrician–gynecologists play an impor- tant role in the identification and management of women with hereditary breast and ovarian cancer syndrome. If an obstetrician–gynecologist or other gynecologic care provider does not have the necessary knowledge or expertise in cancer genetics to counsel a patient appropriately, referral to a genetic counselor, gynecologic or medical oncologist, or other genetics specialist should be considered (1). More genes are being discovered that impart varying risks of breast cancer, ovarian cancer, and other types of cancer, and new technologies are being developed for genetic test- ing.
    [Show full text]
  • Insights Into Molecular Classifications of Triple-Negative Breast Cancer: Improving Patient Selection for Treatment
    Published OnlineFirst January 24, 2019; DOI: 10.1158/2159-8290.CD-18-1177 REVIEW Insights into Molecular Classifications of Triple-Negative Breast Cancer: Improving Patient Selection for Treatment Ana C. Garrido-Castro1,2, Nancy U. Lin1,2, and Kornelia Polyak1,2 ABSTRACT Triple-negative breast cancer (TNBC) remains the most challenging breast cancer subtype to treat. To date, therapies directed to specific molecular targets have rarely achieved clinically meaningful improvements in outcomes of patients with TNBC, and chemo- therapy remains the standard of care. Here, we seek to review the most recent efforts to classify TNBC based on the comprehensive profiling of tumors for cellular composition and molecular features. Technologic advances allow for tumor characterization at ever-increasing depth, generating data that, if integrated with clinical–pathologic features, may help improve risk stratification of patients, guide treatment decisions and surveillance, and help identify new targets for drug development. Significance: TNBC is characterized by higher rates of relapse, greater metastatic potential, and shorter overall survival compared with other major breast cancer subtypes. The identification of biomarkers that can help guide treatment decisions in TNBC remains a clinically unmet need. Under- standing the mechanisms that drive resistance is key to the design of novel therapeutic strategies to help prevent the development of metastatic disease and, ultimately, to improve survival in this patient population. INTRODUCTION with TNBC, and chemotherapy remains the standard of care. Although many patients with early stages of TNBC are cured Breast cancer is the most frequently diagnosed cancer with chemotherapy, in those who develop metastatic disease, and the second most common cause of cancer mortality in median overall survival (OS) with current treatment options women worldwide (1).
    [Show full text]
  • The BRCA Guide
    BRCA Guide: Navigating Your Journey A guide to BRCA mutations and their influence on cancer from beBRCAware beBRCAware @beBRCAware @beBRCAware WHAT IS BRCA? Everyone is born with BRCA1 and BRCA2 genes. Normally, these genes ensure that cancerous cells don’t grow and multiply. However, these genes can be mutated, causing their function to change. Mutated BRCA genes are less likely to have control over cancerous cells, leading to an increased risk of ovarian, breast, prostate, and pancreatic cancer. Ovarian cancer can be deadly among women and those with a BRCA mutation are at an increased risk of developing this disease. If you have a BRCA1 mutation, you have a 39% chance of developing ovarian cancer by age 70. If you have a BRCA2 mutation, you have an 11% chance of developing ovarian cancer by age 70. WHY GET TESTED? If you have cancer: If you do not have cancer: Knowing your BRCA status can help your health Knowing your BRCA status will let you know if care team plan potential treatment options, such as you have an increased risk for developing certain targeted therapy. It can also help inform others in cancers. From there, you and your doctor can then your family about their own cancer risk. Remember, decide to screen for cancer more frequently or take you can get tested at any time—even after your preventive action. Finding out that you have a BRCA initial diagnosis. mutation can also prompt other family members to get tested to see if they are at risk. Talk to your doctor about getting BRCA tested BRCA Guide: Navigating Your Journey 1 YOUR FAMILY COULD BE AT RISK Because BRCA mutations may be hereditary, they can be passed down to family members regardless of gender.
    [Show full text]
  • Endometrial Cancer Occurence Five Years After Breast Cancer in BRCA2 Mutation Patient
    Case Report Obstet Gynecol Sci 2015;58(2):175-178 http://dx.doi.org/10.5468/ogs.2015.58.2.175 pISSN 2287-8572 · eISSN 2287-8580 Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient Sang Eun Oh1, Soo Hyun Kim1, Mee Seon Kim2, Min Kyu Kim3 1Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Departments of 2Pathology and 3Obstetrics and Gynecology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea We recently experienced a case of endometrial cancer 5 years after the diagnosis of breast cancer in a patient with a mutation in the BRCA2 gene. A 55-year-old Korean woman who had a past history of breast cancer in her 50s underwent an operation for endometrial cancer. Final pathology confirmed stage Ia, and no adjuvant treatment was performed. After surgery, considering her history of sequential cancer occurrence, genetic counseling was offered. The result showed the BRCA2 variation of unknown significance mutation. This is the first case report of sequential cancers (endometrial and breast) in a patient with a BRCA2 mutation among a Korean population. Keywords: BRCA; Breast neoplasms; Endometrial neoplasms Introduction In breast cancer, the average lifetime risk is 65% and 45% in women with BRCA1 and BRCA2 mutations, respectively. In Endometrial cancer is one of the most common and curable ovarian cancer, the average lifetime risk is 39% and 11% in gynecologic cancers. It usually occurs in women over the age women with BRCA1 and BRCA2 mutations, respectively [6]. of 50 years. The risk factors for endometrial cancer are associ- Recently, BRCA genes have been studied in association with ated with exposure to unopposed estrogen, obesity, diabetes endometrial cancer.
    [Show full text]
  • Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location
    G C A T T A C G G C A T genes Review Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location Masayuki Sekine * , Koji Nishino and Takayuki Enomoto Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan; [email protected] (K.N.); [email protected] (T.E.) * Correspondence: [email protected]; Tel.: +81-25-227-2320; Fax: +81-25-227-0789 Abstract: Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA mutation identified is growing rapidly. Therefore, it is expected that analysis of the risk of developing cancer will be possible in a large number of BRCA mutant carriers, and there is a possibility that personal and precision medicine for the carriers with specific common founder mutations will be realized. In this review, we investigated the association of ovarian cancer risk and BRCA mutation location, and differences of other BRCA-related cancer risks by BRCA1/2 mutation, and furthermore, we discussed the difference in the prevalence of germline BRCA mutation in ovarian cancer patients.
    [Show full text]
  • BRCA1 Mutation in Breast Cancer Patients: Analysis of Prognostic Factors and Survival
    1986 ONCOLOGY LETTERS 17: 1986-1995, 2019 BRCA1 mutation in breast cancer patients: Analysis of prognostic factors and survival JOANNA HUSZNO1, ZOFIA KOŁOSZA2 and EWA GRZYBOWSKA3 1Outpatient Clinic; 2Biostatistics Unit; 3Center for Translational Research and Molecular Biology of Cancer, Maria Skłodowska‑Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, 44‑101 Gliwice, Poland Received March 11, 2018; Accepted August 30, 2018 DOI: 10.3892/ol.2018.9770 Abstract. The presence of BRCA1 mutations is associated mutations in breast and ovarian cancer are <1-7% for BRCA1 with an increased risk of breast and ovarian cancer. The and 1-3% for BRCA2 independently from family history or age present study compared clinicopathological characteristics at diagnosis. In literature, a family history of breast or ovarian and overall survival (OS) of hereditary and sporadic breast cancer, young age at diagnosis, male breast cancer or multiple cancer. Using data collected from a previous study conducted tumors (bilateral breast cancer or breast and ovarian cancer in between 2007-2016 at the Maria Skłodowska Curie Cancer the same patient) occur more often in BRCA mutation carriers. Center and Institute of Oncology (Gliwice, Poland), the The median time of diagnosis of breast cancer in patients with prognostic factors and survival in 60 breast cancer mutation germline BRCA mutation is lower (in age under 50 years) than carriers were analyzed. A control group was selected from for patients with sporadic cancer (1). External factors which the breast cancer patients without BRCA mutations (n=386). can modify BRCA associated breast cancer risk are hormonal BRCA mutation carriers had significantly worse survival and reproductive factors such as pregnancy, history of breast when compared with non-carriers (P=0.017).
    [Show full text]
  • Re-Flections Medical Newsletter June, 2000
    reinventing reinsuranceSM LETTER FROM THE EDITOR GENETICS AND NEW TREATMENTS IN Dear Reader: BREAST CANCER Approximately 180,000 In this issue we present articles on breast cancer and a review of Type 1 women in the U.S. alone are diag- Diabetes Mellitus. We also introduce a new contributor, Jeanne Mariani, a nosed with breast cancer each year. ® member of the RGA Underwriting Group. Considering that breast cancer accounts for 29 percent of all can- In recent years, breast cancer statistics have shown a very gradual reduction in cers in women, it’s no wonder that mortality in populations around the world. The mortality remains high in we, as underwriters, are faced with most countries in the Northern Hemisphere while in countries such as Japan numerous applications from and China the mortality rate remains quite low. These changes have been breast-cancer survivors. What fol- attributed to early diagnosis, improvement in therapy and possibly, lifestyle lows are a few topics of interest on changes. As a result of these changes, we are likely to see increasing numbers the genetics and treatment of of applications from women with breast-cancer histories. The challenge will breast cancer. be to stratify these applicants appropriately. In cases of early disease (carci- noma in situ and early Stage 1 disease) the majority of these women may Genetics of Cancer approach close to standard mortality. More advanced disease is associated There are two types of with 10-year survival rates, ranging from 66 percent with Stage II disease to genetic lesions that can lead to the 7 percent with Stage IV disease.
    [Show full text]
  • Hereditary Breast and Ovarian Cancer Syndrome (HBOC): BRCA1 and BRCA2 Mutations
    Updated December 2019 (NCCN v1.2020) Hereditary Breast and Ovarian Cancer Syndrome (HBOC): BRCA1 and BRCA2 Mutations Cancer Risks and General Management Recommendations Cancer Type BRCA1/2 General Surveillance/Management Recommendations1 Mutation Carrier Population Cancer Risks Lifetime Cancer Risks Female Breast2 Primary: 49-57% 12.4% Surveillance Age 18 years: Breast awareness Second Primary: o Periodic, consistent breast self-exam may facilitate 40-60% breast self-awareness o Breast changes should be promptly reported to a healthcare provider Age 25 years: Clinical breast exam every 6-12 months Age 25-29 years: Annual breast MRI with contrast (or mammogram with consideration of tomosynthesis, if MRI is unavailable) o If there is a breast cancer diagnosis in the family before age 30, screening should be individualized based on family history Age 30-75 years: Annual mammogram with consideration of tomosynthesis, and breast MRI with contrast Age >75 years: Management should be considered on an individual basis Surgery Discuss option of risk-reducing mastectomy, including degree of protection, reconstruction options, and procedure-related risks o Family history and residual breast cancer risk with age and life expectancy should be considered o Prophylactic mastectomy can reduce the risk of breast cancer by up to 90-95%3-5 Chemoprevention Chemoprevention can reduce the risk of breast cancer in the contralateral breast in women with BRCA1 and BRCA2 mutations who have been diagnosed with breast cancer6,7 Use of chemoprevention may reduce the risk of breast cancer by up to 62%. Risks, benefits, and limitations of chemoprevention should be discussed with a clinician Treatment Olaparib (Lynparza) was approved by the FDA in January 2018 for patients with germline BRCA-positive, HER2- negative metastatic breast cancer who have previously received chemotherapy.
    [Show full text]