Atm Gene Mutation Pancreatic Cancer Screening


Atm Mutations In Patients With Hereditary Pancreatic Cancer

Dr. Churpek Discusses the ATM, CHEK2, and PTEN Genes in Breast Cancer

Note: Supplementary data for this article are available at Cancer Discovery Online .

A.P. Klein, K.W. Kinzler, and R.H. Hruban contributed equally to this article.

Corresponding Authors:

  • Proof December 29 2011
  • Nicholas J. Roberts, Yuchen Jiao, Jun Yu, Levy Kopelovich, Gloria M. Petersen, Melissa L. Bondy, Steven Gallinger, Ann G. Schwartz, Sapna Syngal, Michele L. Cote, Jennifer Axilbund, Richard Schulick, Syed Z. Ali, James R. Eshleman, Victor E. Velculescu, Michael Goggins, Bert Vogelstein, Nickolas Papadopoulos, Ralph H. Hruban, Kenneth W. Kinzler, Alison P. Klein ATM Mutations in Patients with Hereditary Pancreatic Cancer. Cancer Discov 1 January 2012 2 : 41â46.

    What Do You Do If You Test Positive For Atm

    If you test positive for an ATM gene mutation, your doctor will probably recommend that you get screened for cancer at an earlier age and more often than someone without the mutation.

    For instance, guidelines suggest women with ATM abnormalities should undergo screening for breast cancer beginning at age 40 and may want to consider a risk-reducing mastectomy .

    Talk to your healthcare provider about all your screening and prevention options.

    Aga Guidance: When To Screen For Pancreas Cancer

    AGA has released a new Clinical Practice Update providing best practice advice for clinicians screening and diagnosing pancreatic cancer in high-risk individuals.

    In the AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review, published in Gastroenterologys July issue, the authors provide the following best practice advice statements to address key issues in clinical management of these patients:


  • Pancreas cancer screening should be considered in patients determined to be at high risk, including first-degree relatives of patients with pancreas cancer with at least two affected genetically related relatives.
  • Pancreas cancer screening should be considered in patients with genetic syndromes associated with an increased risk of pancreas cancer, including all patients with PeutzJeghers syndrome, hereditary pancreatitis, patients with CDKN2A gene mutation, and patients with one or more first-degree relatives with pancreas cancer with Lynch syndrome, and mutations in BRCA1, BRCA2, PALB2, and ATM genes.
  • Genetic testing and counseling should be considered for familial pancreas cancer relatives who are eligible for surveillance. A positive germline mutation is associated with an increased risk of neoplastic progression and may also lead to screening for other relevant associated cancers.
  • Clinicians should not screen average-risk individuals for pancreas cancer.
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    Risk Management For People With Inherited Atm

    The National Comprehensive Cancer Network provides risk management guidelines for people with ATM mutations. We recommend that you speak with a genetics expert, who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type.

    People with an ATM mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

    Preparation Of Genomic Dna Libraries And Whole

    Tag: ATM

    A total of 5 to 10 μg of genomic DNA per sample were sequenced with the Illumina GAIIx Genome Analyzer via use of the Illumina Whole Genome Fast-Track Sequencing Service to yield 200 base pairs from the final library fragments. Sequencing reads were analyzed and aligned to human genome hg18 with the Eland algorithm in CASAVA 1.7 software . The Database of Single Nucleotide Polymorphisms was used in the analysis of whole-genome sequencing data .

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    If You Carry An Atm Mutation What Cancers Are You At Risk For

    People who inherit two abnormal copies of ATM, one from each of their parents, develop ataxia-telangiectasia a rare disease that causes neurological problems and a less effective immune system. A-T also increases your risk for certain cancers, such as:

    • Parotid gland cancer

    If you have A-T, your overall risk of getting some type of cancer is as high as 40 percent.

    People with only one ATM mutation may also have an increased risk of developing cancers, such as:

    Why Is It Important To Know If You Are At Risk For Atm

    Knowing you have an ATM mutation can provide you with important information about your cancer risk and identify family members who may be at risk, too.

    Studies show women who carry a mutation in the ATM gene have a 20 to 60 percent increased risk for breast cancer.

    A-T is a recessive genetic disorder, which means you need to inherit the same abnormal gene for the same trait from each carrier parent. If you and your partner both carry the mutation, you have a 25 percent chance of your child having A-T with each pregnancy.

    The risk of having a child who becomes a carrier like his or her parents is 50 percent with each pregnancy.

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    How Is Fpc Diagnosed

    FPC is a term used to describe families with a clustering of pancreatic cancer diagnoses. At this time, there is no specific test for FPC. Families are considered to have FPC if there are:

    • 2 or more members of a family who are first-degree relatives, such as parents, children, or siblings, who have been diagnosed with pancreatic cancer, or

    • 3 or more close relatives from the same side of the family who have been diagnosed with pancreatic cancer.

    If you have symptoms of pancreatic cancer, talk with your doctor. They will perform a physical exam and ask you about your medical history. Your doctor will also recommend specific tests to help find pancreatic cancer. Learn more about the symptoms and signs of pancreatic cancer.

    What Is Familial Pancreatic Cancer

    Genetic mutations in DNA-repair genes appear to favor longer survival in pancreatic cancer patients

    Familial pancreatic cancer is a term to describe families with a high rate of pancreatic cancer. The pancreas is a pear-shaped gland found in the abdomen between the stomach and spine. The gland makes enzymes that help the body digest food. It also makes hormones, such as insulin, that help control blood sugar. Ductal adenocarcinoma of the pancreas is the most common type of pancreatic cancer. It starts when healthy cells lining the pancreatic ducts change and grow out of control, forming a tumor.

    Families are considered to have FPC if there are at least 2 members of the family with pancreatic cancer who are first-degree relatives, such as a parent, child, or siblings of one another, or if there are at least 3 members of the family who have pancreatic cancer. Healthy individuals who come from a family with FPC are likely to have an increased risk of developing pancreatic cancer in their lifetime.

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    What Are The Estimated Cancer Risks Associated With A

    People with A-T also have about a 40% risk of developing cancer. The most common types of cancer seen in people with A-T are leukemia and lymphoma. These 2 types of cancers can appear in childhood and account for 85% of all cancers in people with A-T. As people with A-T live longer, there appears to be an increased risk of other cancer types, including breast cancer, ovarian cancer, stomach cancer, melanoma, and sarcoma.

    Disclosure Of Potential Conflicts Of Interest

    Under a licensing agreement between Myriad Genetics, Inc., and the Johns Hopkins University, K.W. Kinzler, V.E. Velculescu, B. Vogelstein, A.P. Klein, J.R. Eshleman, R.H. Hruban, and M. Goggins are entitled to a share of royalty received by the University on sales of products related to PALB2. The terms of this arrangement are being managed by the Johns Hopkins University in accordance with its conflict-of-interest policies. Under agreements between the Johns Hopkins University, Inostics, PGDx, and QIAGEN, N. Papadopolous, B. Vogelstein, K.W. Kinzler, and V.E. Velculescu are entitled to a share of the royalties received by the University on sales of products related to genes and technologies described in this manuscript. N. Papadopolous, B. Vogelstein, K.W. Kinzler, and V.E. Velculescu are co-founders of Inostics and Personal Genome Diagnostics and are members of their Scientific Advisory Boards. They own stock in Inostics and PGDx, which is subject to certain restrictions under Johns Hopkins University policy. The terms of these arrangements are managed by the Johns Hopkins University in accordance with its conflict-of-interest policies.

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    For Those That Have Certain High

    Screening is when people, who do not have symptoms, but have a higher chance of developing cancer, are monitored and tested periodically. The goal is to detect cancer early before symptoms appear, to improve chances of survival.

    Currently, it is only recommended that those with a high-risk of developing pancreatic cancer get screened. Therefore it is best to consult your physician to determine whether a referral to a specialist or genetic counselor is appropriate and if screening is right for you.

    According to the 2019 International Cancer of the Pancreas Surveillance Consortium, below are the recommendations of who should be screened for pancreatic cancer and at what age it should begin.1

    Current Approaches To Pancreatic Cancer Screening

    cancer risk relating to ATM gene
    • James J. FarrellCorrespondenceAddress correspondence to James J. Farrell, M.D., Department of Digestive Diseases, Yale School of Medicine, LMP 1080, 15 York St., New Haven, CT 06510-3221.AffiliationsYale Center for Pancreatic Diseases, Yale School of Medicine, New Haven, ConnecticutYale Center for Pancreatic Diseases, Department of Digestive Diseases, Yale School of Public Health, New Haven, Connecticut

    Cancer Res.



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    How Is Fpc Inherited

    Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. Researchers think that FPC typically follows an autosomal dominant inheritance pattern, even though the specific genes that cause FPC are mostly unknown. In autosomal dominant inheritance, a mutation happens in only 1 copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene. Or, that parent may pass along 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 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.

    Can You Be Tested For Atm

    Yes, genetic testing can help you find out if you have an ATM mutation.

    Usually, your doctor will ask you to provide a blood sample to be analyzed in the lab.

    Your healthcare provider might recommend testing if you have a family history of A-T or an ATM mutation, if you have symptoms of A-T, if you develop certain ATM-related cancers, or if you have other risk factors.

    If you decide to undergo genetic testing, you might want to speak with a genetic counselor, who can help you understand your family history, your results, and your cancer risks.

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    What Does An Atm Mutation Mean For My Blood Relatives

    If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. This means theres an equal chance they will or wont have the mutation. Your distant family members may also be at risk for having the same mutation.

    Males and females have an equal chance of passing down a mutation in their family. You only need to inherit a mutation from one parent to have an increased risk for cancer.

    Your genetic counselor will review your family history and talk with you about whether they recommend genetic testing for your blood relatives.

    Who Is Considered High

    Breast Cancer Survivor Urges Testing For Lesser-Known Genetic Mutation
    • All patients with Peutz-Jeghers syndrome
    • All carriers of a germline CDKN2A mutation
    • Carriers of a germline BRCA2, BRCA1, PALB2, ATM, MLH1, MSH2, or MSH6 gene mutation with at least one first-degree blood relative affected by pancreatic cancer
    • Individuals who have at least one first-degree relative with pancreatic cancer who in turn also has a first-degree relative with pancreatic cancer

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    Pathologic And Genetic Features

    Informed written consent was obtained from the patient for publication of this case report.

    A vigorous 44-year-old woman presented to her gynecologist with left-sided pelvic pain. Transvaginal ultrasound revealed a left ovarian mass, and she underwent a left salpingo-oophorectomy and right salpingectomy. The left ovary contained a 12-cm multiloculated cyst consistent with a mucinous borderline tumor, intestinal type, with focal areas of invasive mucinous adenocarcinoma in the cyst wall. The bilateral fallopian tubes contained detached clusters of mucinous adenocarcinoma, identical to that found in the ovary immunohistochemistry positive for B72.3, BerEP4, WT-1, CK7, CK20, and p16 and negative for p53, ER, PAX8, calretinin, and D240. Because the invasive adenocarcinoma was most consistent with a gastrointestinal origin, computed tomography of the chest, abdomen, and pelvis was performed which revealed numerous hepatic metastases, the largest 1.8 cm, and a 3.5 cm mass in the pancreatic body/tail junction. Endoscopic ultrasound with fine-needle aspiration /biopsy of the pancreatic mass and liver showed adenocarcinoma, consistent with stage IV PDAC to the liver and fallopian tubes .1). The carbohydrate antigen 199 = 216 U/mL.

    Laser Capture Microdissection And Dna Extraction Of Pancreatic Tumor Samples

    To identify somatic mutations and copy number changes in patients with germline ATM mutations, primary pancreatic cancer cells were meticulously microdissected from frozen sections with the PALM micro-laser system as previously described . Genomic DNA was then extracted with the QIAamp DNA Micro Kit .

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    Information For Patients With A Pathogenic Mutation Or Variant Likely Pathogenic

    4 Things To Know


    ATM mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the ATM gene.
    2 Cancer risks You have an increased chance to develop female breast cancer, pancreatic cancer, and possibly other types of cancer
    3 What you can do There are risk management options to detect cancer early or lower the risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages cancer risks.
    4 Family Family members may also be at risk they can be tested for the ATM mutation that was identified in you.

    ATM Mutations in the Family

    There is a 50/50 random chance to pass on an ATM mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.

    Gene Linked To Breast Cancer Also Raises Risk For Other Cancers Study Shows

    ICARE Newsletter Winter 2020Updates to National Comprehensive Cancer ...

    Dr. Michael Hall, chair of the Department of Clinical Genetics at Fox Chase and a researcher on the study.

    PHILADELPHIA Theres more and more evidence that genes associated with one type of cancer may increase risk for other cancers as well. Now a study by Fox Chase Cancer Center scientists quantifies new risks for pancreatic, prostate, gastric, and other cancer in a gene previously linked to breast cancer.

    The research also shows that the location of a genetic mutation plays a role in cancer risk and that people whose mutations occur in certain hot spots on the gene are at higher risk than others.

    We undertook this study wanting to more broadly explore what kind of cancers might be a risk in people who carry mutations in this commonly mutated gene, said Michael J. Hall, MD, MS, chair of the Department of Clinical Genetics at Fox Chase.

    The study, Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated Gene are Associated With High and Moderate Risks for Multiple Cancers, was published in Cancer Prevention Research, a journal of the American Association for Cancer Research.

    The study looked at variants, or mutations, in the ataxia telangiectasia mutated gene, a gene that has long been identified for its association with a moderate increased risk for breast cancer. It included data from more than 627,000 patients who had previously undergone genetic testing. Of the group, 4,607 patients were found to have an ATM mutation.

    For more information, call

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    What Can I Do About My Cancer Risk If I Have An Atm Mutation

    If you have a mutation, your genetic counselor will review your results and your personal and family history of cancer and give you cancer screening recommendations.

    They may recommend you start having cancer screenings at a younger age, have them more often than most people, or get specialized screenings to help find cancer as early as possible.

    Some examples of these cancer screenings include having breast magnetic resonance imaging scans and mammograms .

    Your genetic counselor will also talk with you about whether there are any other screening or prevention options that may be right for you.

    What Are The Screening Options For Fpc

    It is unknown if screening for pancreatic cancer is effective, and there is no routine screening for pancreatic cancer that is currently recommended for the general population. The medical community continues to research who to screen, which tests to use, and how often to use them.

    Given that individuals from FPC families, or individuals with germline genetic mutations in BRCA1, BRCA2, PALB2, CDKN2A, ATM, MLH1, MSH2, MSH6, PMS2, STK11, and EPCAM, are at increased risk for pancreatic cancer, there is much interest in researching pancreatic cancer screening for these high-risk individuals. Its important to talk with your doctor about the screening options below, as each person is different.

    • Magnetic resonance imaging An MRI uses magnetic fields to produce detailed images of the pancreas.
    • Endoscopic ultrasound A thin, lighted tube is passed through the patient’s mouth and stomach. The tube goes down into the small intestine to take a picture of the pancreas.

    Screening options are likely to change over time as new technologies are developed and more is learned about FPC. Its important to talk with your doctor about screening tests that are right for you. Learn more about what to expect when having common tests, procedures, and scans.

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