These Siblings Share Everything Except the BRCA2 Gene Mutation

 

Just Ask BRCA

Video taken from the channel: MySupport360 Hereditary Cancer


 

Genetic Testing & Ovarian Cancer: It’s Personal

Video taken from the channel: OMNIConnect


 

Dispelling myths of BRCA gene mutations

Video taken from the channel: astrazeneca


 

Physician Chat on BRCA1 and BRCA2 Gene Mutation and Breast Cancer

Video taken from the channel: Wake Forest Baptist Health


 

A Breast Cancer Survivor’s Story | Being Jewish and Breast Cancer Risk

Video taken from the channel: Johns Hopkins Medicine


 

The Fight To Take Back Our Genes

Video taken from the channel: acluvideos


 

Living with the BRCA2 Gene Mutation

Video taken from the channel: Plantish


These Sisters Share Everything—Except the BRCA2 Gene Mutation Sisters Jenny Wikoff, 39, and Julie Buchanan, 37, have done everything together since their childhood in New Jersey. But three years ago, their paths diverged when Jenny tested positive for the BRCA2 gene mutation. Two of us: sisters with a BRCA gene mutation Sisters Rachelle (39) and Corinne (35) Gebert knew their father’s mother had died from breast cancer but didn’t know they were at an increased risk of developing the disease until their father tested positive to the BRCA2 gene mutation.

“So for a woman who has a BRCA1 gene mutation, we usually talk about having the ovaries and the fallopian tubes removed between 35 and 40. And then for a woman who has a BRCA2 gene mutation, we usually talk about having them removed between 45 and 50.”. BRCA1 and BRCA2 gene mutations are linked to the development of breast cancer, ovarian cancer and other types of cancer. Genetic testing and counseling services can determine whether a person carries these mutations and, if they do, how the information could help inform cancer prevention or treatment decisions. The family was at a loss.

Two sisters with breast cancer in their 30s is unfortunate, but three sisters had to be more than mere bad luck. At that point, a doctor urged the family to get genetic testing. They discovered all five Kimball sisters share a mutation of the BRCA gene passed down through their father’s side. About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene.

If either your mother or your father has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation. Some groups are at a higher risk for a BRCA gene mutation than others, including women with Ashkenazi Jewish heritage. WHO: Your parents, siblings, and children are the family members who are most likely to have the same BRCA1 or BRCA2 mutation that you do. Other blood relatives, such as aunts, uncles, nieces, nephews, and cousins, are also more likely to have the mutation.

BRCA1 and BRCA2 are genes that code for tumor suppressor proteins. BRCA gene mutations may cause the body to build or fold these proteins incorrectly. This.

In addition to BRCA1 and BRCA2 gene mutations, some of these include mutations in ATM, PALB2, PTEN, CDH1, CHEK2, TP53, STK11, PMS2, and more. Let’s look at how important these non-BRCA1/BRCA2 mutations are in familial breast cancer, and some of the characteristics of those more commonly found. Three days after starting her new job at Healthline back in 2015, Sheryl Rose found out that her sister had breast cancer.

List of related literature:

BRCA1 and BRCA2 mutations can be inherited from maternal or paternal gene lines.

“Understanding Pathophysiology 3e Australia New Zealand” by Judy Craft, Christopher Gordon, Sue E. Huether, Kathryn L. McCance, Valentina L. Brashers
from Understanding Pathophysiology 3e Australia New Zealand
by Judy Craft, Christopher Gordon, et. al.
Elsevier Health Sciences Division, 2018

Mutations in BRCA1, BRCA2, and less commonly the genes responsible for HNPCC/Lynch syndrome, are responsible in a proportion of these families, but a susceptibility gene locus for sitespecific ovarian cancer has not been identified.

“Emery's Elements of Medical Genetics E-Book” by Peter D Turnpenny, Sian Ellard
from Emery’s Elements of Medical Genetics E-Book
by Peter D Turnpenny, Sian Ellard
Elsevier Health Sciences, 2011

HLA-matched siblings share the same two extended haplotypes and therefore are identical for all genes residing within the MHC.

“Thomas' Hematopoietic Cell Transplantation” by Karl G. Blume, Stephen J. Forman, Frederick R. Appelbaum
from Thomas’ Hematopoietic Cell Transplantation
by Karl G. Blume, Stephen J. Forman, Frederick R. Appelbaum
Wiley, 2008

Both daughters are asymptomatic heterozygous carriers of the mutant gene.

“Rapid Review Pathology Revised Reprint” by Edward F. Goljan
from Rapid Review Pathology Revised Reprint
by Edward F. Goljan
Elsevier Health Sciences, 2011

As for the RB genes, BRCA2 affected mutation persons and then inherit experience one copy of a a somatic 1 BRCA and products 1 APC or loss of the remaining normal allele in one or more cells (following the two-hit RB1 and model APC, for tumor suppressor genes).

“Medical Genetics E-Book” by Lynn B. Jorde, John C. Carey, Michael J. Bamshad
from Medical Genetics E-Book
by Lynn B. Jorde, John C. Carey, Michael J. Bamshad
Elsevier Health Sciences, 2009

Two caretaker genes are BRCA1 and BRCA2.

“Oxford Textbook of Cancer Biology” by Francesco Pezzella, Mahvash Tavassoli, David Kerr
from Oxford Textbook of Cancer Biology
by Francesco Pezzella, Mahvash Tavassoli, David Kerr
Oxford University Press, 2019

These include the downstream genes of the FA/BRCA pathway, FANCD]: BRCA2, FANCN: PALBZ, FANCJ: BRIP] and FANCO: RAD5]C. BRCA2 is considered a high-penetrance breast cancer susceptibility gene with heterozygous mutations increasing the risk more than tenfold.

“Encyclopedia of Cancer” by Manfred Schwab
from Encyclopedia of Cancer
by Manfred Schwab
Springer Berlin Heidelberg, 2011

In addition, endometrial carcinoma frequently occurs in patients with hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome II), suggesting that inactivation of a common gene may participate in the development of both endometrial and colonic carcinomas.

“Blaustein's Pathology of the Female Genital Tract” by Robert J. Kurman
from Blaustein’s Pathology of the Female Genital Tract
by Robert J. Kurman
Springer New York, 2013

Recombination occurs between homologs rather than sisters.

“Cell Biology E-Book” by Thomas D. Pollard, William C. Earnshaw, Jennifer Lippincott-Schwartz
from Cell Biology E-Book
by Thomas D. Pollard, William C. Earnshaw, Jennifer Lippincott-Schwartz
Elsevier Health Sciences, 2007

The BRCA1 and BRCA2 gene products complex with Rad51 and other proteins involved in repair of double-stranded DNA breaks (DSBs) by homologous recombination (175,176).

“Berek and Hacker's Gynecologic Oncology” by Jonathan S. Berek, Neville F. Hacker
from Berek and Hacker’s Gynecologic Oncology
by Jonathan S. Berek, Neville F. Hacker
Wolters Kluwer/Lippincott Williams & Wilkins Health, 2010

Oktay Kutluk

Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.

Mail: [email protected]
Telephone: +1 (877) 492-3666

Biography: https://medicine.yale.edu/profile/kutluk_oktay/
Bibliography: oktay_bibliography

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12 comments

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  • Well said Kittee

    Life; one of man’s inalienable rights is directly threatened by these sorts of patents that seek to make $ on illnesses & procedures that they didn’t create, and have ABSOLUTELY NO right to claim.

    Patents are essentially glorified DIBS. These tests weren’t created by them, or exclusively used by them. They were just the 1st to call dibs. NOW they can legally inflate the price shoddy testing that is not accurate, AND prevent others from doing a better job. GO USA!

  • on reps who try to get doctors to prescribe their drugs over their competitors, and I don’t think medication is an area where persuasion on any basis other than effectiveness, in conjunction with consideration as to side effects, and lastly, cost to the patient should be a part of the decision making process doctors use to determine which ones to prescribe to their patients. Also, the FDA is in bed with PHARMA, & their decisions reflect this, which means less protection for the consumer.

  • What’s wrong with finding out what mutates these gene’s?  Is it possible that the genetic material in vaccines is part of what makes a gene mutate?  Is it possible that there are specific radiation levels that make genes mutate….Lets figure out what makes the genes mutate.

  • Hi Natalie, You made me smile,love your can do attitude. I have the same gene,just finished my radiotherapy after chemo and lumpectomy. Thanks for sharing the details in your tests etc. I was wondering what will happen going forward. Pray tou never have to go through it. Much love!!

  • Healthcare and capitalism are at direct odds with one another.

    One seeks to save lives and control cost, and the other seeks to maximize profits. The end goal of these two things are so incongruous that anyone who says that capitalism will naturally fix the problems with healthcare (advancements in science, price gouging by hospitals/pharm. COs) by creating competition is seriously an idiot. Like seriously. Capitalism does not care about lives, only annual profits.

  • Thank you for this informative video! I am BRCA1 positive, my mother passed away from ovarian cancer 3 years ago at the age of 59. A lot of the things you get checked, we do not get checked here in the Netherlands, so I’m a bit surprised! But it does sound very interesting and I’m curious why we have different guidelines here than in the US.

    I have always been told that screening for ovarian cancer is ineffective (the ultrasound and CA125). I haven’t heard about vitamin D! Another advice that’s different from the Netherlands is the one about taking birth control. They told me that taking birth control with hormones heightens your chance on breast cancer but it does diminish your chance on ovarian cancer a bit. But taken together, they don’t recommend using birth control with hormones over 25. Which ones are you using exactly?

    The only tests I get done every year is an MRI (and an additional mammography from the age of 30) of my breasts. The guideline here is to remove your ovaries (but not your uterus) by the age of 35-40 for BRCA1+ and between 40-45 for BRCA2+. They don’t have strict guidelines for removing your breasts, because of what you said: they can treat it much better. But they do recommend it.

    There is an international facebook group for BRCA1/2 carriers where they share information and experiences: “BRCA1 or BRCA2 Genetic Ovarian & Breast Cancer Gene”.

    Thanks again! ❤

  • Yes, sadly, all the evidence I have seen indicates that last thing the evil drug companies not want to do is discover cures, but instead just want to find ways for customers to be reliant on taking medications, for life. I have even read and heard credible information that they will buy possible cures, & shelve them, so that cure cannot make their daily medications obsolete. Yep, they really are that evil. Makes my blood boil. Wondering when the people r ever gonna get a clue and say, No more!”

  • I think it’s time we turn our focus from cancer “awareness” (seriously, we are all aware of it) to situations like this. I understand why patents exist, but this is a matter of ethical corporate behavior.

  • This is an incredibly important issue, yet this video has 14,000 views or so… yet Beyonce’s pepsi advert already has 4 million odd views… and there in lies the problem. This is why society doesn’t clamor for change.. they don’t know or don’t care… and the powers that be are quite happy to keep it that way…

  • I recently found out I have the BRCA 2 gene this past year. I’m the first in my family to get tested. My mother had breast cancer 5 years ago she’s a survivor. However, her younger sister die from it at the age of 40 (2 years ago). No one else in my family has been tested and I don’t personally know anyone else who has it. Thanks for sharing your story!

  • It’s still amazing to be that simple human progress towards curing disease and preventing suffering is not only indirectly but now overly being deliberately held back by corporate greed the fact that they’re throwing wads and wads of cash in the face of our law makers.

  • There is a reason why they have far more lobbyists than any other industry, I could go on & on about their evil ways. Like, why do they have an army of sales people who ply doctors w/ expensive lunches, iPads, iPhones, vacations 2 exotic & very desirable locales, etc., etc., etc. Cause aren’t medications something that a dr should prescribe solely based on which 1 is best (most effective, and safe, and affordable.) 4 their patient, as opposed 2 which company’s rep has buttered them up the best?