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What Of Breast Cancer Is Hereditary

Treatment Options For Colon Cancer

Hereditary Breast Cancer Genetics in 2019 – Brittany Bychkovsky, MD, MSc


This is the most common treatment for colon cancer and is called asurgical resection. In this procedure along with the affected part, part of the healthy colon or rectum and lymph nodes will be removed. Surgery is done by either of the three methods open method, laparoscopic method and robotic method.


It is the use of cytotoxic or anticancer drugs to kill cancer cells, and is often used as a treatment option for colon cancer

Targeted therapy:

This type of treatment blocks the growth and spread of cancer cells while limiting the damage that is done to healthy cells. The different types of targeted therapies include anti-angiogenesis therapy, epidermal growth factor receptor inhibitors and checkpoint Inhibitors

Radiation therapy:

Radiofrequency ablation or cryoablation is used for the liver metastasis. In this procedure, high energy radio waves are used to kill tumours.

Breast Cancer Facts And Risk Factors

In this series

Most cases of breast cancer occur by chance. However, breast cancer does occur more often than usual in some families because of their genetic makeup.

In this article

Breast Cancer Facts and Risk Factors

In this article

Most cases of breast cancer occur by chance. However, breast cancer does occur more often than usual in some families because of their genetic makeup. Genetic means that the condition is passed on through families through special codes inside cells called genes. Your genetic ‘makeup’ is important because the material inherited from your parents controls various aspects of your body.

If you are concerned that your risk of developing breast cancer is higher than usual because of your family history then see your doctor for assessment.

If you have a moderately increased risk then an option is to have breast screening at an earlier age than normal and more often than usual. If you have a high risk then you may be offered genetic testing, counselling and regular breast screening tests.

Screening And Prevention Strategies

Addressed in general terms and other guidelines referenced Addressed in general terms and other guidelines referenced
Genetic Counseling: Addressed
  • U.S. Preventive Services Task Force: Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143 : 355-61, 2005.
  • Domchek SM, Friebel TM, Singer CF, et al.: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304 : 967-75, 2010.
  • Rebbeck TR, Friebel T, Lynch HT, et al.: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22 : 1055-62, 2004.
  • Evans DG, Ingham SL, Baildam A, et al.: Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat 140 : 135-42, 2013.
  • Kurian AW, Sigal BM, Plevritis SK: Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol 28 : 222-31, 2010.
  • Kauff ND, Domchek SM, Friebel TM, et al.: Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26 : 1331-7, 2008.
  • Finch AP, Lubinski J, Møller P, et al.: Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 32 : 1547-53, 2014.
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    What You Need To Know

    • About 10% of breast cancers are related to inheritance of damaged genes, including breast cancer genes.
    • In addition to BRCA1 and BRCA2, other genes are associated with increased cancer risk, such as: PALB2, ATM, CHEK2, CDH1, STK11, PTEN, TP53 and NF1.
    • If you have inherited a damaged gene, the risk of developing breast cancer or other cancers can be as high as 80% depending on the specific gene and your family history.
    • Whether you get tested for genes that put you at risk for cancer is a personal decision, and should be considered carefully with the help of your doctor and family.
    • Regular monitoring and preventive surgery are options to discuss with your doctor if you are at risk for hereditary breast cancer.

    Ovarian Cancer And Other Cancers

    Association between hereditary breast cancers and molecular subtypes ...

    BRCA1 and BRCA2 mutations increase a womans risk of ovarian cancer, pancreatic cancer and melanoma .

    BRCA1/2 mutations may also increase the risk of other cancers . However, data are limited and these topics are still under study.

    For a summary of research studies on BRCA1 and BRCA2 mutations and cancer, visit the Breast Cancer Research Studies section.

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    What Is Hereditary Breast And Ovarian Cancer Syndrome

    Approximately 80% of breast cancer occurs sporadically. About 10-15% of breast cancer is familial and about 5-10% is hereditary . Harmful mutations in BRCA1 and BRCA2 appear to account for ~30% of high-risk breast cancer families. HBOC is an autosomal dominant cancer predisposition syndrome. Individuals with HBOC have a high risk for breast and ovarian cancers and a moderate risk for other cancers . Not all individuals who inherit a mutation in BRCA1 or BRCA2 will develop cancer and the signs and symptoms, type, and age of onset of cancer will vary within families .

    It is estimated that the general population prevalence of pathogenic mutations in the BRCA1 and BRCA2 genes is 1 in 300 to 1 in 500. Founder mutations are observed in individuals of Ashkenazi Jewish ethnicity occurring at an estimated frequency of about 1 in 50.

    Choosing Surgery To Prevent Breast Cancer

    Ninan says women with BRCA1 or BRCA2 mutations face a significant risk of breast and ovarian cancer. Prophylactic removal of the fallopian tubes and ovaries is recommended by about age 40. Many women with BRCA1 or BRCA2 mutations will also elect to have their breasts removed. Nipple-sparing mastectomy is an effective option for these patients, she says.

    Making the decision to have an elective preventive double mastectomy and removal of the ovaries is personal, and should be based on many life factors. You must balance where you are in your childbearing years, what your future choices may be, and whether you would prefer to follow a rigorous screening schedule instead of making such a life-altering choice.

    If you are facing this decision, you are not alone. Caring specialists can ensure you have all the facts, and, if surgery is ultimately your choice, guide you in the appropriate breast surgery reconstruction to help restore your body image after treatment. If you are interested in discussing ovary removal surgery , your doctor can refer you to a specialist in gynecological oncology.

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    Histopathology And Molecular Features Of Familial Non

    Very little is known about the genetic basis of non-BRCA1/2 breast cancer. Genetic linkage analysis of families has been performed and several chromosomal regions potentially harboring breast cancer susceptibility genes have been identified, including 8p12p22, 13q21, and 2q31q33. However, these loci have either been shown not to be major predisposing loci, or their status remains to be confirmed, thereby emphasizing genetic heterogeneity and population-specific effects among non-BRCA1/2 families. Non-BRCA1/2 hereditary carcinomas represent 67% of familial breast cancers when families with only female breast cancer and four or five affected members are considered. In the Spanish population, considering families with at least three cases of female breast cancer and one of the affected women being < 50 years, 75% of cases were not attributable to BRCA1/2 mutation.

    There are three studies that have defined the histological characteristics of these neoplasias., , In the three studies, invasive ductal carcinoma was the most frequent histological type: 77% of the cases according to Lakhani et al, 78% in the series of Palacios et al and 67% in the study of Eerola et al. In two of them,, an excess of lobular carcinomas was found in familial non-BRCA1/2 compared with BRCA1 , BRCA2 , and sporadic cases . The difference was only significant with respect to BRCA1 tumors.

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    What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants

    Understanding the genetic risks of breast cancer

    There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.

    The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.

    A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.

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    How Is Hboc Inherited

    Normally, each person has 2 copies of each gene in their bodys cells: 1 copy is inherited from a persons mother and 1 copy is inherited from a persons father. HBOC follows an autosomal dominant inheritance pattern. This means that a mutation needs to happen in only 1 copy of the gene for the person to have an increased risk of getting that disease. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A sibling or parent of a person who has a mutation also has a 50% chance of having inherited the same mutation. However, if the parents test negative for the mutation , the risk to the siblings significantly decreases but their risk may still be higher than an average risk.

    Referral To A Specialist

    Your GP will refer you to a specialist breast clinic or genetics clinic for assessment if you have any of the following:

    • one first degree female relative diagnosed with breast cancer aged younger than 40
    • one first degree male relative diagnosed with breast cancer at any age
    • one first degree relative with cancer in both breasts where the first cancer was diagnosed aged younger than 50
    • two first degree relatives, or one first degree and one second degree relative, diagnosed with breast cancer at any age
    • one first degree or second degree relative diagnosed with breast cancer at any age and one first degree or second degree relative diagnosed with ovarian cancer at any age
    • three first degree or second degree relatives diagnosed with breast cancer at any age

    Your GP should also refer you if you have one first degree or second degree relative diagnosed with breast cancer when they were older than 40 years and one of the following:

    • the cancer was in both breasts
    • the cancer was in a man
    • ovarian cancer
    • Jewish ancestry
    • sarcoma in a relative younger than age 45 years
    • a type of brain tumour called glioma or childhood adrenal cortical carcinomas
    • complicated patterns of multiple cancers diagnosed at a young age
    • two or more relatives with breast cancer on your father’s side of the family

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    What Are The Estimated Cancer Risks Associated With Hboc

    Cancer risks for women with HBOC

    • Lifetime risk of breast cancer 45% to 75%

    • Lifetime risk of ovarian cancer

      • BRCA1 gene mutation 25% to 40%

      • BRCA2 gene mutation 10% to 20%

    • Developing a second breast cancer 20% to 40%

    Cancer risks for men with HBOC

    • Lifetime risk of breast cancer

      • BRCA1 gene mutation 1% to 2%

      • BRCA2 gene mutation 6%

      • BRCA1 gene mutation some increased risk

      • BRCA2 gene mutation 20%

    • Men with a BRCA2 gene mutation have a significantly increased risk of developing more aggressive prostate cancer before age 65 and therefore screening should begin at age 40.

    Genetic Testing For Breast Cancer At Roswell Park

    Hereditary Cancers

    Our board-certified genetic counselors can help determine whether you should undergo genetic screening, arrange for testing, and explain what the results mean for you and your family. Our Genetics team provides:

    • Genetic counseling to help you understand the biology and genetics of cancer
    • Construction of your genetic pedigree to look for patterns that may show an increased risk for cancer
    • Orders for genetic testing
    • Explanation of your test results. We will discuss your options for reducing your risk, surveillance and screening going forward

    To request an appointment for genetic consultation, call 1-800-ROSWELL .

    Request an Appointment

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    Talking About Family Health History With Your Health Care Provider

    Your family history of breast cancer and other health conditions is important to discuss with your health care provider. This information helps them understand your risk of breast cancer.

    Susan G. Komen®s My Family Health History Tool

    My Family Health History tool is a web-based tool that makes it easy for you to record and organize your family health history. It can help you gather information thats useful as you talk with your doctor or genetic counselor.

    How Can A Person Who Has Inherited A Harmful Brca1 Or Brca2 Gene Variant Reduce Their Risk Of Cancer

    Several options are available for reducing cancer risk in individuals who have inherited a harmful BRCA1 or BRCA2 variant. These include enhanced screening, risk-reducing surgery , and chemoprevention.

    Enhanced screening. Some women who test positive for harmful BRCA1 and BRCA2 variants may choose to start breast cancer screening at younger ages, have more frequent screening than is recommended for women with an average risk of breast cancer, or have screening with magnetic resonance imaging in addition to mammography.

    No effective ovarian cancer screening methods are known. Some groups recommend transvaginal ultrasound, blood tests for the CA-125 antigen , and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 variants. However, none of these methods appear to detect ovarian tumors at an early enough stage to improve long-term survival .

    The benefits of screening men who carry harmful variants in BRCA1 or BRCA2 for breast and other cancers are not known. Some expert groups recommend that such men undergo regular annual clinical breast exams starting at age 35 . The National Comprehensive Cancer Network guidelines recommend that men with harmful germline variants in BRCA1 or BRCA2 consider having a discussion with their doctor about prostate-specific antigen testing for prostate cancer screening starting at age 40 .

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    Risks For Breast Cancer

    A risk factor is something that increases the risk of developing cancer. It could be a behaviour, substance or condition. Most cancers are the result of many risk factors. But sometimes breast cancer develops in women who dont have any of the risk factors described below.

    Most breast cancers occur in women. The main reason women develop breast cancer is because their breast cells are exposed to the female hormones estrogen and progesterone. These hormones, especially estrogen, are linked with breast cancer and encourage the growth of some breast cancers.

    Breast cancer is more common in high-income, developed countries such as Canada, the United States and some European countries. The risk of developing breast cancer increases with age. Breast cancer mostly occurs in women between 50 and 69 years of age.

    Hereditary Breast And Ovarian Cancer

    Hereditary Cancer Syndrome

    About 5% to 10% of breast and 10% to 15% of ovarian cancers are hereditary. Hereditary cancer means cancer runs in your family, and could be caused by a change in certain genes that you inherited from your mother or father.

    Genes act as instructions and contain information to build and maintain cells in the body. Humans inherit one set of genes from their mother and one set of genes from their father.

    Genes are made up of DNA. DNA tells the body what traits will be passed on from parents to children, such as blood type, hair color, eye color, and risks of getting certain diseases.

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    Other Cancer Risks For People With Hboc

    Anyone with mutations in the BRCA2 gene may be at an increased risk of other types of cancer, including melanoma and pancreatic, stomach, esophageal, and bile duct cancers.Mutations in other genes may be associated with an increased risk of developing breast and other cancers, including the Li-Fraumeni syndrome , Cowden syndrome, and others. The pattern of cancers in the family is often a clue to the specific gene that may explain the hereditary cancer for that family. Multigene panels are available for people with a strong personal and family history of cancer. Multigene panel tests include BRCA1 and BRCA2 and many other genes that increase the risk of breast, ovarian, and other cancers. If your BRCA1 and BRCA2 test was negative, then you may or may not have mutations in other genes. A newer type of testing, called next generation sequencing, massively parallel sequencing, or deep sequencing, has made testing for multiple genes at the same time faster and less expensive. If a genetic mutation is found, this could explain the cancers in a specific family and provide information about who is at risk and the appropriate types of monitoring and prevention/risk reduction methods.

    What Do The Test Results Mean

    The results of HER2 testing will guide you and your cancer care team in making the best treatment decisions.

    It is not clear if one test is more accurate than the other, but FISH is more expensive and takes longer to get the results. Often the IHC test is done first.

    • If the IHC result is 0 or 1+, the cancer is considered HER2-negative. These cancers do not respond to treatment with drugs that target HER2.
    • If the IHC result is 3+, the cancer is HER2-positive. These cancers are usually treated with drugs that target HER2.
    • If the IHC result is 2+, the HER2 status of the tumor is not clear and is called âequivocal.â This means that the HER2 status needs to be tested with FISH to clarify the result.

    Triple-negative breast tumors dont have too much HER2 and also dont have estrogen or progesterone receptors. They are HER2-, ER-, and PR-negative. Hormone therapy and drugs that target HER2 are not helpful in treating these cancers. See Triple-negative Breast Cancer to learn more.

    Triple-positive breast tumorsare HER2-, ER-, and PR-positive. These cancers are treated with hormone drugs as well as drugs that target HER2.

    Our team is made up of doctors and oncology certified nurses with deep knowledge of cancer care as well as journalists, editors, and translators with extensive experience in medical writing.

    Last Revised: September 20, 2019

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