Thursday, September 19, 2019

Gyn Cancer Awareness in Saudi Arabia - International Gyne Cancer Day

Dr. Sarah Alrubaish (@sarahrubaish), a #gyncsm community member, sent us a note that we are happy to share with the rest of our community in honor of World Gynecologic Oncology Day on Friday, September 20th.

September is Gynecologic Cancer Awareness Month in Saudi Arabia.

"We are a group of GynOnc in Saudi Arabia. We launched the first awareness day of GYNONC in Saudi Arabia.

...we had 9 lectures

...The attendance was almost 250 healthcare providers. Saudi Arabia we are trying to help our female patients

Thank you Dr. Rubaish for all you are doing to help women with gynecologic cancers in Saudi Arabia and for holding this event. 

#gyncsm Co-founder

Wednesday, September 11, 2019

Sept. 11, 2019 Chat - The Breast and Ovarian Cancer Connection

As the #gyncsm community celebrated its' Sixth Anniversary we discussed The Breast and Ovarian Cancer Connection.  We were pleased to have Lisa Schlager from FORCE (@FacingOurRisk) and Joy Larsen Haidle from the National Society Genetic Counselor's (@GeneticCouns)  as well as genetics counselors, survivors, physicians, organizations and advocates join us for this very important discussion.

A complete transcript may be found here and the analytics here.

Here are a few responses to the questions we asked.

T1A: What is hereditary breast and ovarian cancer (HBOC)? Which are the most commonly affected genes in HBOC?

  • A1 HBOC means that there is an inherited risk factor that increases the chance of developing certain cancers over a lifetime such as breast & ovarian cancer. There are several breast/ovarian cancer genes; the most well known are BRCA1 & BRCA2.
  • T1a Cancers that occur because of an inherited genetic mutation are hereditary cancers or HBOC. Cancers that are not due to a hereditary gene change are called sporadic cancer. #gyncsm
  • A1 The chance of developing cancer over a lifetime varies depending on the gene & by gender. Remember inherited cancer predisposition may be inherited from men just as likely as w/ women. Don’t forget the guys in the family! Men have an increased cancer risk too. #gyncsm 
  • T1a Red flags of HBOC include ovarian, early onset breast, male breast, pancreatic or prostate cancer. Also, multiple family members w/cancer and/or Ashkenazi Jewish ancestry. #gyncsm
  • A1a BRCA1/2, PALB2, ATM, and CHEK2 are commonly affected genes in HBOC.Other genes related 2 HBOC include BARD1, BRIP1, RAD51C, RAD51D, EPCAM, CDH1, CHEK2, NBN, MLH1, MSH2, MSH6, PMS2, NF1, PMS2, PTEN, STK11, TP53 #gyncsm

T1B: What information do genetic counselors need to determine risk and the need for women to be tested? #gyncsm

  • A1B Talk with relatives to learn about the health problems that run in the family. For cancer, ask what type & age of onset. Ask if female relatives have had ovaries and/or uterus removed plus the age. Ask about colon polyps too. #gyncsm 
  • A1b Personal & family history of all cancers (2-3 generations) including type & age at diagnosis from the mother’s & father’s side of the family help determine risk & need for genetic testing. #gyncsm
  • A1B Genetic testing is common now. Ask if relatives had genetic testing done & if they would share a copy of the results. Important to share information to help protect health! #gyncsm
  • A1b People w/ Eastern European Jewish ancestry are 10 times more likely to carry a BRCA mutation than the average population. 1:40 vs. 1:400 people.

T2A: What % of women diagnosed with breast cancer have these mutations? What % with ovarian cancer have these mutations?

  • A2a An estimated 10% of #BC and 15-20% of #OVCA are due to an inherited genetic mutation. These numbers are higher in certain populations
  • A2A Up to 10% of women w/ #BC have a strong inherited risk factor. Another 20% of women w/ #BC may have a moderate risk cancer gene. For #ovca, up to 25% of women have an underlying inherited risk. Important to see a GC for a risk assessment & consider testing. #gyncsm 

T2B: Has the number of prophylactic surgeries (surgeries before cancer develops) increased in the past 10 years? Have celebrity stories about their surgeries helped or hindered from your perspective?

  • A2B Celebrity stories created awareness & conversation about options for risk reduction. Words used to describe mastectomy have changed to be more accepting & supportive than past years.
  • Surgical decisions personal & may be influenced by cancer experience in family. Have seen more women ask about bilateral mastectomy in recent to explore all options.
  • T2A: certain types of breast & ovarian cancer have higher % chance of having a hereditary cause such as triple-negative breast cancer (especially if diagnosed before 60yo) & high-grade serous ovarian cancer. A genetic counselor can help assess your risk
  • A2b Genetic testing has increased & national guidelines support risk-reducing surgery for those w/certain mutations so it follows that the numbers of prophylactic surgeries have increased.
  • A2b Celebrity stories have both helped & hindered genetic testing depending on the celebrity & the nature of the story. Angelina Jolie was probably the most positive & influential.

T3A: What options do women with a BRCA mutation (Previvors) have to reduce their risk of the diseases? How will the new USPSTF testing recommendations impact women?

  • A3: There are 3 main options to manage or reduce risk: increased screening, chemoprevention & risk-reducing surgery. #gyncsm  
  • A3: The new USPSTF guidelines are nearly identical to those published in 2013. Only addition is consideration of ancestry in evaluating risk & need for testing.
  • A3: The new USPSTF recs fall short of meeting the needs of Americans who may be at increased risk of cancer due to hereditary factors. Check out our statement on the new guidelines.
  • A3 New recs help remind that past hx of #brca important as testing may not been available @ time of diagnosis & criteria broader. Young age (50 or under), bilateral #brca, metastatic brca, triple negative brca, #ovca, #FTca & primary peritoneal all test candidates. #gyncsm
  • A3: USPSTF guidelines ignore men, ignore mutations other than BRCA, & ignore people w/ cancers other than breast or ovarian. They must do better.
  • It's helpful to remember USPSTF has specific parameters and frameworks that they work within--they focus on evaluating high quality evidence for specific populations. Often in hereditary cancer, evidence is poor, out of date, or has gaps -- we have tons more work to do!

T3B: What are the benefits of testing for women already diagnosed with breast or ovarian cancer?

  • Testing post diagnosis #bc or #ovca helpful to determine chance second cancer over lifetime, where, and if should consider risk reduction or extra surveillance. Helps relatives prevent cancer too.
  • Targeted therapies, such as PARP drugs are paving the way for HBOC’s. Progression free survival is making a difference for these women.
  • Testing post diagnosis #bc or #ovca helpful to determine chance second cancer over lifetime, where, and if should consider risk reduction or extra surveillance. Helps relatives prevent cancer too.
  • A3b: Testing may help identify targeted treatments. It also helps inform surgical decisions, risk of other cancers, and potential risk to family members.
  • T3B: Targeted therapy consideration & clinical trial eligibility are increasingly factors that encourage women w/ #breast or #ovarian cancer to seek genetic counseling & genetic testing -- mutation status can guide which treatment or maintenance options may be recommended

T4 What advice can you offer to women with the mutations in how to to share this information with their families?

  • A4 GCs often provide letter to share w/ family explaining inherited risk in the family & how to learn more. Important to share information w/ relatives. Respect different choices w/ how to use results & differing opinions on whether want to know mutation status.
  • A4 If you receive a relative letter, remember the courage it took to send it & the intent to help you learn more if you wish to do so. Talk to a GC to answer your questions. It does not obligate you to test, but instead helps you make an informed choice.
  • Prevention for extended family members by genetic testing is a priceless gift from those previously affected by HBOC. Having options & making life style changes are just a few more extended gifts.
  • Great resources exist to help relatives share results and access "cascade" genetic testing: check out @KintalkUCSF (a research study offering testing) + many genetic testing laboratories now offering ways to get tested directly
  • FORCE even has a sample letter for sharing info about the mutation with family members and children. We encourage anyone considering testing to seek out a genetic counselor!

T5: If you had genetic testing, what reaction did you have when you learned you had or did not have a BRCA mutation?

  • A5 Many experience fear or sadness, but also a sense of empowerment.
  • I was disappointed I did not have the mutation.Part of me I wanted to explain why I got #ovca . I also thought women with a the mutation has longer survival and more treatment
  • When my family member tested positive, it was an answer to something we knew was going on in the family. It was a relief that is is moderate risk vs high risk. It being moderate and more rare also makes healthcare decision making that much more murky though
  • T5: complex reactions — relieved that my OvCa wasn’t my “fault”; surprised that as an Ashkenazi Jew with a mom who died of breast cancer genetic testing had never been offered to me earlier; I was completely #BRCA-unaware. So I was gobsmacked as they say across the Pond.
  • T5: Pretty much expected to test +, so wasn't shocked. At that point, we were used to getting bad news. Or sorta numb to it. 

Many assume that insurance won't cover genetic testing. Or, they fear insurance repercussions. FORCE has info on legal rights and insurance coverage. We also have sample insurance appeal letters for those who encounter problems with coverage.

We will not be chatting in October but be sure to catch our next #gyncsm chat on Wed Nov 13th when we’ll discuss Stress and Cancer. 

* Announcement *  - It is time for a survey of our #gyncsm community. We hope you will complete the short survey at: so we can understand our community and support you with the topics that are most beneficial. The survey will be open until September 30, 2019. 

We look forward to seeing you in November. 

#gyncsm Co-moderator




@GeneticCouns to locate a genetic counselor near you or by telephone.

CDC Does Breast or Ovarian cancer run in your family ?

Facebook: #BRCA Advanced 101 & 102 #JournalClub

Friday, September 6, 2019

Breast and Ovarian Cancer Connections Sept 11,2019 Chat

This month, which is Gynecologic Cancer Awareness Month, we will be chatting about The Breast and Ovarian Cancer Connection. We are so happy that representatives from FORCE (@FacingOurRisk) and The National Society of Genetic Counselors (@GeneticCouns) will be joining us for the very important discussion.

Cancer can be caused by many things. But when a cancer develops because of an inherited mutation, that is called a hereditary cancer. The most common causes of Hereditary Breast and Ovarian Cancer (HBOC) are mutations in the BRCA1 and/or BRCA2 genes. But other genes such as PALB2, CHEK2, ATM, BRIP1 and RAD51C may also increase one's risk for breast and ovarian cancer.

Topic questions include:
T1A :What is hereditary breast and ovarian cancer(HBOC)?Which are the most commonly affected genes in HBOC? 
 T1B: What information do genetic counselors need to determine risk and the need for women to be tested? 

T2A: What % of women diagnosed with #BC have these mutations? What % with #ovca have these mutations?
T2B: Has the number of prophylactic surgeries increased in the past 10 years? Have celebrity stories about their surgeries  helped or hindered? 

T3: What options do women with a BRCA mutation (Previvors) have to reduce their risk of the diseases? How will the new USPSTF recommendations impact women? 

T4: What is the best way to communicate to women with a mutation regarding their increased risk of breast and ovarian cancers? Patients: who shared this info with you? 

T5: If you had genetic testing what reaction did you have when you learned you had or did not have a BRCA mutation? 

Read more about these genetic connections on the FORCE website at:

Learn more about genetic testing and the role of the genetic counselor on the NSGC site at:

If you are a previvor, survivor, caregiver or you work with gyn cancer or breast cancer patients, we look forward to having you join us on Wednesday, September 11th at 9pmET!

See you then,

#gyncsm co-founder and co-moderator

Wednesday, August 14, 2019

Finding Balance: “Cancer Life” vs. “Real Life” a #CancerSM Chat 8/14/19

The #gyncsm community was happy to moderate the #cancersm joint cancer hashtag chat titled Finding Balance: “Cancer Life” vs. “Real Life” on August 14,2019 at 9pm ET. The #cancersm hashtag is used by a number of cancer hashtag communities, including #bcsm, #lcsm, #btsm, #mmsm and #ayacsm.

We had 36 participants join us to discuss how cancer patients and survivors find balance in their lives. You may find the complete transcript here and analytics here.

Below are a few highlights from the night's chat.

T1: When you think about finding a balance in your life after a cancer-related or tumor-related diagnosis, what comes to mind?

  • i think of being able to do what I liked to do with my “old normal “—travel, go out in the evening to concerts, etc. Right now my consciousness is dominated by cancer related thoughts. #cancersm
  • Balance is really hard to find when dxd as cancer sorta takes over your life, yet it's impt to try to find some. #cancersm
  • I always considered myself a previvor due to family history, but after the genetic mutation diagnosis I felt much more urgency to give my own health attention vs. career and young kids #CancerSM
  • It’s not so much about finding balance but more... rebalancing your scales. Cancer’s impacts are here to stay so it’s about trying to find ways to do your normal life with it always lingering on the sidelines. #cancersm
  • When scan time comes up every six months, I find it hard to balance the anxiety with other priorities.
  • Finding balance means something different to each of us. #cancersm
  • I had no idea, in 2003, how DIFFICULT it would be to find balance. I still haven’t found it yet! #CancerSM

T2: How do you balance your treatment/healthcare schedule with work and/or taking care of children or elderly parents? 

  • I try not to do anything cancer related before 10 am or after 7pm and on the weekends Sometimes that is not possible, but that’s my goal
  • LOL.   with a smile? Schedule multiple appointments in the same day or after/before work hours so you don’t have to use all of your vacation time. Try not to have a breakdown on the NYC subway, but if you do, it’s okay. #cancersm
  • setting boundaries in your own life is a real skill! I’m still learning. #cancersm
  • Since my 3rd recurrence I’ve been disabled and spend my extra time/energy volunteering. Focusing on cancer related work means they understand when I’m sick. #cancersm
  • when it comes to work you may need to avail yourself of legal benefits like reasonable accommodations, FMLA/state leave, etc. sometimes it can feel like asking for a favor, but those who are eligible should remember it’s a right! @TriageCancer has resources to help! #CancerSM
  • @NavSurvivorship @TriageCancer @CancerAndCareer is another great one for that type of info #cancersm

T3: After diagnosis, did you change how you ate or how much you exercised? Did you start a new activity or stop doing an activity?
  • There are growing data to support exercise to prevent cancer recurrence - and you get the bonus of stress relief!! #gyncsm #cancersm
  • yes!! And expectations can be different but not lowered.
  • @gyncsm I remained exercising because I knew it was important. It helped keep my energy up and I felt strong even though I was going through something that made me feel weak mentally. #cancersm
  • I was an avid tennis player and gave it up as I am too tired. Not liking my new normal #CancerSM 
  • Also some evidence that exercise helps mitigate treatment-related symptoms (fatigue, poor balance, etc). #gyncsm #cancersm
  • You gotta cut yourself some slack. Exercise is always important. As is healthy eating. Sometimes neither is doable. That's ok. #cancersm
T4: How much of your "cancer life" do you share with those in your life that haven't been impacted by cancer or a tumor?
  •  It’s part of me I can’t hide it. It’s made into who I am today #cancersm
  • I was scared at first to share anything. But I slowly started to share on social media, and I got so much support. I enjoy sharing my #cancerjourney story and hearing others! #cancersm
  • I talk about the brain tumors A LOT. I think it freaks ppl out, but I gotta talk abt them. Also talk about breast cancer risk too. There’s more than BRCA & I’m gonna say it! LOL #btsm #bcsm #pten #CancerSM
  • Surprisingly perhaps, not that much. Not sure if many read my blog even. #cancersm
  • hard to say. Most people I know have personal experience of cancer or a family member with cancer...or they are previvors! #cancersm
  • Very little. Except in writing (twitter, blogs) but usually strangers are reading those. Absolutely NOTHING about my experiences with #lateeffects. It freaks people out (cancer from cancer treatment?) and I’m still emotional talking about it #cancersm
  • I tell my hubby whatever I am thinking or feeling. With my Mom and Grandmother I am more reserved. They understand but also don't understand. They can take things out of context which just creates more issues that I don't want to have to deal with. #cancersm
  • Disclosure is SUCH a personal decision and there is no one right answer. BUT, there can be long term ramifications and people should be empowered to know they have choices! #cancersm
  • I used to kinda keep cancer-land on Twitter and other on Facebook but they both blur now. In person, I sometimes chat about. I do go online mostly to converse with those who "get it". #cancersm
  • Being an advocate I openly share with anyone who is interested. I try not to clog up my personal FB page with all Myeloma stuff. I’ve created a separate Myeloma page.#cancersm

T5: How soon after your diagnosis did you start volunteering and/or sharing your story? How do you balance family needs, personal needs, work needs and a desire to advocate for yourself and others?
  • I went to a @livestrong survivor summit a year after my dx and my volunteering and advocacy grew from that experience. I learned I could make a difference and knowledge was powerful #cancersm
  • I had to stop working because of cumulative effects of chemo, brain surgery (benign meningioma) and PTSD. Before that I was a data analyst and managed research projects. Research Advocacy is how I can benefit myself and others #cancersm
  • Exactly 2 years! I went from not wanting to talk about it at all, to realizing I needed to. I’m still trying to figure out the balance part. But hey, aren’t we all? #cancersm
  • During my dx, I performed some stand-up about it as a way to battle my shame around a colorectal dx. Then, quiet when I felt lost in the hurt. After attending a retreat with @yacancercanada almost 2 years after my dx, it really activated me as a patient voice. #cancersm
  • Advocate burnout is real - for your own care and in your more general patient advocacy. @JBBC is doing some writing on this. Important topic. #cancersm
  • I was the face of #childhoodcancer - always accepting invites to speak. After #lateeffects from tx, I didn't speak about it for 7 years. I felt like I failed survivorship. Now you can find me angry tweeting about cancer and NOT talking to my family/friends about it #cancersm

We like to end our chats with TIL standing for Today I Learned... 
TIL (relearned) - that I’m not alone! #CancerSM
TIL: how people accept cancer as part of their experience but don’t let it define them!! #cancersm
TIL that finding a balance, or a new normal, is a process that takes times and many different forms + it's an important consideration for anyone whose life is touched by cancer: from previvors to those no longer in active treatment/survivorship #cancersm #endcancer
TIL:Remission is living peaceful life , wish you all a peaceful life that you strongly deserve, bless you #CancerSM
Not so much a TIL, but more “today I am reminded” that we all struggle and are trying to navigate the aftermath of cancer. I am so thankful for this #cancersm chat for the connection and encouragement! Let’s keep working together!!

Mark your calendars and join us for our next #gyncsm chat on Wednesday, September 11th 9pm ET on "Breast and Ovarian Cancer Connections".   
During September,Gyn Cancer Awareness month  follow #IWishIKnew to hear from real Ovarian Cancer survivors about what they wish they had known before they were diagnosed-- and join the campaign! 
And remember to tweet things of interest to the gyn cancer community by using the #gyncsm hashtag. 

See you next month! 

#gyncsm Co-moderator

Saturday, August 10, 2019

Joint #cancersm chat Finding Balance: “Cancer Life” vs. “Real Life”

This month during the #gyncsm time slot (2nd Wed of the month at 9pm ET) our community will be moderating the joint cancer hashtag #cancersm chat titled Finding Balance: “Cancer Life” vs. “Real Life”. The #cancersm hashtag is used by a number of cancer hashtag communities, including #bcsm, #lcsm, #btsm, #mmsm and #ayacsm, for topics that are important to cancer patients, survivors, caregivers and health care providers and may be of interest to all cancer-related diagnoses. 

Guiding our discussion will be the following Topic Questions (T#:):
T1: When you think about finding a balance in your life after a cancer-related or tumor-related diagnosis, what comes to mind?
T2: How do you balance your treatment/healthcare schedule with work and/or taking care of children or elderly parents?
T3: After diagnosis, did you change how you ate or how much you exercised? Did you start a new activity or stop doing an activity?
T4: How much of your "cancer life" do you share with those in your life that haven't been impacted by cancer or a tumor?
T5: How soon after your diagnosis did you start volunteering and/or sharing your story? How do you balance family needs, personal needs, work needs and a desire to advocate for yourself and others?
Bonus Question (time permitting): What activities do you participate in during your cancer’s awareness month?

These are just some of the balancing acts cancer survivors experience as they navigate diagnosis, treatment, recurrence and survivorship. We hope you join #gyncsm and other cancer #hashtag communities on Wednesday, August 14, 2019 at 9pm ET (8pm CT, 6pm PT) for our discussion. 

If you are new to tweet chats check out this Primer by #lcsm ( )
And remember to include #cancersm in ALL your tweets so the other chat participants can see them.

See you on Wednesday ,

Dee and Christina

Friday, July 12, 2019

Highlights of the #CANCERSM - Basics of Biomarker Testing Chat

We joined with the #lcsm, #bcsm,  and #btsm Twitter Communities and Dr.Tim Allen (@TimAllenMDJD) for this important discussion on Biomarkers. The chat focused on molecular biomarkers for cancer.

You may find the transcript here .

Below are a few highlights from last night's chat. Resources may be found at the end of the post.

T1: What is a biomarker and how is it identified?

  • T1 A biomarker is a biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease.
  • T1 A biomarker may be used to see how well the body responds to a treatment for a disease or condition. Also called molecular marker and signature molecule.
  • T1 Tumor markers, which are a type of biomarker, have traditionally been proteins or other substances that are made by both normal and cancer cells but at higher amounts by cancer cells.
  • T1 Tumor markers provide information about a cancer, such as how aggressive it is, whether it can be treated with a targeted therapy, or whether it is responding to treatment:
  • T1 A biomarker can be predictive of treatment response or prognostic for disease course independent of treatment
  • basic info on Wikipedia:
  • T1 Cancer researchers are working to develop new biomarkers that can be used to identify cancer in its early stages, to predict the effectiveness of treatment, and to predict the chance of cancer recurrence.
  • T1: In the brain tumor community, biomarkers are how we patients introduce ourselves to each other. No longer do we talk about the types or grades (i.e. stage) of our tumors, we talk about our biomarkers. For reals.

T2: What is biomarker testing used for?

  • T2 There are two main types of tumor markers that have different uses in cancer care: circulating tumor markers and tumor tissue markers. 
  • T2 Molecular biomarker tests are generally of three types of biomarkers: diagnostic, therapeutic, prognostic
  • T2 Circulating tumor markers, which can be found in the blood, urine, stool, or other bodily fluids of some patients with cancer, are used, for example, to estimate prognosis and to assess the response to treatment.
  • T2: Molecular biomarker testing involves laboratory tests that evaluate and identify the presence, on the surface of a cancer cell for e.g. a protein, or the identification of mutations or other changes in the cancer cell genes
  • T2 Tumor tissue markers, which are found in actual tumors, are used to diagnose, stage, and/or classify cancer, to estimate prognosis, and to select an appropriate treatment (e.g., treatment with a targeted therapy)
  • T2: In cancer, biomarker testing is analysis of DNA, RNA, or proteins that provide info about the diagnosis, prognosis, or are predictive for response to treatment
  • T2 An example of a diagnostic biomarker is prostate-specific antigen (PSA) used for screening of prostate cancer. An example of a therapeutic biomarker is EGFR gene testing in patients with lung cancer.
  • While the traditional breast carcinoma prognostic markers ER, PR, Her 2 neu predicts whether a patient will need hormonal therapy or chemotherapy or Herceptin, more recently in April 2019, immunotherapy has been approved by FDA in triple negative breast ca patients
  • Many non-small cell #lungcancer people also identify with biomarkers--EGFR, ALK, ROS1, BRAF, NTRK, KRAS, RET ....
  • T2: Diagnostic biomarkers help in the diagnosis of the cancer itself; therapeutic biomarkers help in determining whether or not a patient might respond to a molecular therapy; and prognostic biomarkers help determine the patient’s chances for long-term survival.
  • T2: Here's an overview of what is being studied for #ovariancancer Diagnostic and Prognostic Biomarkers in ovarian cancer and the potential roles of cancer stem cells – An updated review

T3: What treatment options can be identified through biomarker testing?

  • T3 A number of tumor markers are currently being used for a wide range of cancer types. Here’s a list of tumor markers in common use:
  • T3 In breast cancer, testing tumors for estrogen and progesterone receptors and the HER2 protein can help doctors help determine whether treatment with hormone therapy or some targeted therapies is appropriate.
  • T3 In non-small cell lung cancer, an analysis of mutations in the EGFR gene can help doctors determine a patient’s treatment and estimate prognosis.
  • T3: identifying #NTRK fusion in #glioma (est 1% of gliomas) opens up avenues for 2 therapies #btsm
  • T3 in lung cancer oncogenic alterations in EGFR ALK ROS1 RET et cetera determine treatment choicces
  • T3 In many types of cancer, seeing whether the tumor makes the PD-L1 protein can determine whether treatment with a type of #immunotherapy drug called an immune checkpoint inhibitor is appropriate.
  • T3: and... finding #H3K27m mutations opens the door to try drugs like #ONC201 (as seen at #ASCO19
  • T3: SO MANY OPTIONS can be identified through biomarkers. Hormone therapy, immunotherapy, targeted kinase inhibitors, antibodies like herceptin... They can also point to clinical trials
  • Analysis of mutations in EGFR+ NSCLC (and other oncogene-driven cancers) can also help determine how to treat resistance to targeted therapies.
  • In myeloma the expression of BCMA is used as a biomarker for CAR-T cell therapy
  • T3: If the molecular biomarker testing shows that the patient's cancer contains the therapeutic target, then that patient might benefit from treatment with the corresponding drug. This is personalized medicine!
  • T3 These drugs, like all drugs, have side effects, so beyond the needless cost, it is important to not treat patients with these molecular therapies if the biomarker testing shows that the drug would not benefit the patient

T4: What biomarker tests should be run for which types of cancers? What is a liquid biopsy and when is useful?

  • T4 There are guidelines for what biomarker testing must be performed on different cancer types.
  • T4: "Liquid biopsy" refers to molecular biomarker testing performed not on a patient's cancer tissue, but on cancer cells or cancer cell DNA or RNA that is floating in the blood stream.
  • T4 For lung cancers, the minimum testing that must be performed is to look at the EGFR gene for mutations and ALK1 and ROS genes for rearrangements. Many pathologists examine other more recently recognized mutations.
  • T4 A #liquidbiopsy is a test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood.
  • T4 For colon cancers, RAS gene testing to guide anti-EGFR therapy. BRAF mutational testing should also be performed for prognostic information.
  • T4 For Breast cancers, the pathologist performs testing for estrogen receptor, progesterone receptor, and HER2 by immunohistochemistry
  • T4 A liquid biopsy may also be used to help plan treatment or to find out how well treatment is working or if cancer has come back. Taking multiple samples of blood over time may also reveal the molecular changes taking place in a tumor.
  • T4 From NCI’s Cancer Currents blog last year: Liquid biopsy may predict the risk of breast cancer returning years later:
  • T4: Liquid biopsy is used in cases where a biopsy of a patient's cancer cannot be performed because the patient is too ill to tolerate the diagnostic procedure, or where the cancer site is difficult to access with a biopsy e.g., a lesion deep inside the body
  • T4 And here’s an overview from 2017 of the evolving science around liquid biopsies and the important research questions:
  • T4: I love the quote about liquid biopsies-- It's like looking for a needle in a haystack. If you find a needle, it's a needle. But if you don't find the needle, it doesn't mean one's not there. A negative result always needs to be followed up by testing tissue
  • Most liquid biopsy tests are not yet covered by insurance. However, most test manufacturers can provide some financial assistance.

T5: Can and should patients pursue biomarker testing for treatment options if their doctor does not offer it?

  • Yes! Push for best care possible. It's my oncologist's job but it's my life
  • T5 NCI does not have guidelines for the use of tumor markers. However, some national and international organizations have guidelines for the use of tumor markers for some types of cancer:
  • T5: Molecular testing and molecular therapy has become the standard of care for many cancers. Most doctors are performing the recommended molecular testing on particular types of cancer.
  • T5 absolutely! doctor should always point out all possible options even if not available at his/her own institution
  • As @JFreemanDaily bought up, the NCCN guidelines are a great resource and an excellent place for patients to find out what the current recommendations are and ask questions of their doc's if there is a variance
  • T5 The basic question to ask your doctor is "Given my diagnosis, is molecular biomarker testing is right for me?" You can read about guidelines which are specifically designed for patients at 
  • T5: Second opinions are almost always a good idea - especially in cancer. Seek doc's with high case volume of your specific type of cancer. You are you own best advocate and the science is changing fast
  • T5: It's always a good idea to ask your doctor about molecular testing; but given the confusion in this rapidly changing area, it may be difficult to know what to ask your doctor. Feel free to call your pathologist and discuss!
  • Get your pathology report and usually there's a phone number. If not, your hospital or clinic should be able to provide

We are so glad that #gyncsm could be an part of this important discussion. 

#gyncsm co-founder

Kyle Strimbu and Jorge A. Tavel, M.D. What are Biomarkers? (2011)

NIEHS: Biomarkers


FDA: What Are Biomarkers and Why Are They Important? Transcript

lay friendly overview #cancersm @CancerDotNet

This is a great slide. #MMSM #Biomarkers

Salivary Biomarkers: Toward Future Clinical and Diagnostic Utilities 

Salivary biomarkers and proteomics: future diagnostic and clinical utilities

VOC breath biomarkers in lung cancer (2016) Blinded Validation of Breath Biomarkers of Lung Cancer, a Potential Ancillary to Chest CT Screening (2015)

MIT Tech Review: Liquid Biopsy Fast DNA-sequencing machines are leading to simple blood tests for cancer. (2015)

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