Genes Associated with Breast, Ovarian Cancers Act Differently in every Lady

 

The impact of germline genetics on breast cancer risk

Video taken from the channel: European Society for Medical Oncology


 

Webinar on Hereditary Breast Cancer: Genes, Associated Syndromes and Testing Options

Video taken from the channel: Pathway OME


 

Hereditary Breast and Ovarian Cancers: Am I at Risk?

Video taken from the channel: American Cancer Society


 

New genetic test could help gauge breast, ovarian cancer risk for women

Video taken from the channel: CBS This Morning


 

Understanding Genetics in Gynecologic Cancers

Video taken from the channel: Mechanisms in Medicine


 

Penn Women’s Cancer Conference Focus On Your Risk of Breast/Ovarian Cancer

Video taken from the channel: Penn Medicine


 

BRCA mutation

Video taken from the channel: Shomu’s Biology


Published in the April 7 issue of the Journal of the American Medical Association, the study focused on women who carried inherited mutations in the BRCA1 or BRCA2 genes. HealthDay Reporter. TUESDAY, April 7, 2015 (HealthDay News) Women who carry mutations in certain genes face a much higher risk of breast and ovarian cancers, but the impact varies depending on the type and location of the mutation, new research finds. Film star Angelina Jolie, who carries a BRCA1 mutation, weighed that risk last month when she announced that she’d had her ovaries and fallopian tubes.

TUESDAY, April 7, 2015 (HealthDay News) Women who carry mutations in certain genes face a much higher risk of breast and ovarian cancers, but the impact varies depending on the type and location of the mutation, new research finds. Genes Linked to Breast, Ovarian Cancers Act Differently in. It’s well known that mutations in those genes substantially raise a woman’s lifetime risk of breast and ovarian cancers. But the latest findings show that it’s more nuanced than that: The degree of the increase varies depending on the type of mutation and its location on the genes. Genes Linked to Breast, Ovarian Cancers Act Differently in Each Woman: Study TUESDAY, April 7, 2015 (HealthDay News) Women who carry mutations in certain genes face a much higher risk of breast and ovarian cancers, but the impact varies depending on the type and location of the mutation, new research finds.

Although ovarian cancer accounts for fewer deaths than breast cancer, ovarian cancer still represents 4% of all female cancers. For some of the cases of both types of cancer, there is also a clear genetic link. In 1994, two breast cancer susceptibility genes were identified: BRCA1 on chromosome 17 and BRCA2 on chromosome 13.

The latest observational study of genomic data in women indicates that the location and type of mutation in BRCA genes play crucial roles in the odds of women getting breast or ovarian cancer. It has long been known that women who carry the BRCA1 or BRCA2 gene mutations are at increased risk for developing these cancers, however the new study, published today in the Journal of. BRCA stands for BReast CAncer. A “mutation,” or harmful genetic change, in either BRCA1 or BRCA2 gives a woman an increased lifetime risk of developing breast and ovarian cancers.

Men with these gene mutations also have an increased risk of breast cancer and prostate cancer. The BRCA1 and BRCA2 genes The breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are the genes most commonly affected in hereditary breast and ovarian cancer. Normally, the BRCA1 and BRCA2 genes protect you from getting certain cancers. There are options for women with BRCA1/2 gene mutations to lower their risk of breast cancer.

Ovarian cancer risk in women with a BRCA1/2 mutation. BRCA1/2 mutations increase a woman’s risk of ovarian cancer. The lifetime risk of ovarian cancer (up to age 70) is: Less than 2 percent for women in the general population.

List of related literature:

Breast and ovarian cancers are prevalent among women, and hereditary breast and ovarian cancers (HBOCs) have been associated with germline mutations in genes such as BRCA1 and BARD1.

“AACR 2018 Proceedings: Abstracts 1-3027” by American Association for Cancer Research
from AACR 2018 Proceedings: Abstracts 1-3027
by American Association for Cancer Research
CTI Meeting Technology, 2018

Although these appear to be responsible for most hereditary ovarian cancers, it is likely that there are other, as yet undiscovered, genes that also predispose to ovarian or breast cancer or both (75).

“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

Detectable mutations in the BRCA1 and BRCA2 genes account for 90% of ovarian cancers in the Hereditary Breast and Ovarian Cancer syndrome, and up to 85% of all familial ovarian cancers.

“Diagnostic Pathology of Ovarian Tumors” by Robert A. Soslow, Carmen Tornos
from Diagnostic Pathology of Ovarian Tumors
by Robert A. Soslow, Carmen Tornos
Springer New York, 2011

In addition to breast cancer, women with BRCA1 mutations have a substantially higher risk of ovarian carcinoma and men have a slightly higher risk of prostate cancer; germline mutations in BRCA2 increase the risk of breast cancer in both men and women, as well as other carcinomas, melanoma, and lymphomas.

“Robbins Essential Pathology E-Book” by Vinay Kumar, Abul K. Abbas, Jon.C. Aster, Andrea T Deyrup
from Robbins Essential Pathology E-Book
by Vinay Kumar, Abul K. Abbas, et. al.
Elsevier Health Sciences, 2020

About 5% of ovarian cancers occur among women who are members of families with inherited predisposition to cancer, including those with BRCA1 and BRCA2 mutations.

“Primary Care Medicine: Office Evaluation and Management of The Adult Patient: Sixth Edition” by Allan H Goroll, Albert G Mulley, Jr.
from Primary Care Medicine: Office Evaluation and Management of The Adult Patient: Sixth Edition
by Allan H Goroll, Albert G Mulley, Jr.
Wolters Kluwer Health, 2011

Mutations in these two types of genes have been linked to hereditary breast and ovarian cancer; it has been estimated that about 5% to 10% of women who have breast cancer have the hereditary form of the disease.

“Epidemiology 101” by Robert H. Friis
from Epidemiology 101
by Robert H. Friis
Jones & Bartlett Learning, 2010

Some hereditary breast and ovarian carcinomas can be traced to an inherited mutation of a tumor suppressor gene designated BRCA1 (breast carcinoma 1), which has been localized to chromosome 17.

“An Introduction to Human Disease: Pathology and Pathophysiology Correlations” by Leonard Crowley
from An Introduction to Human Disease: Pathology and Pathophysiology Correlations
by Leonard Crowley
Jones & Bartlett Learning, 2009

Mutations in both genes predispose to earlier onset and increase risk of female breast cancer, but the risk profile and risk of cancers at other sites differs between the two genes [30].

“Principles of Gender-specific Medicine” by Marianne J. Legato, John P. Bilezikian
from Principles of Gender-specific Medicine
by Marianne J. Legato, John P. Bilezikian
Elsevier Academic Press, 2004

Women with hereditary breast-ovarian cancer susceptibility have mutation in tumour suppressor BRCA genes—BRCA-1 (located on chromosome 17q) and BRCA-2 (located on chromosome 13q).

“Textbook of Pathology” by Harsh Mohan
from Textbook of Pathology
by Harsh Mohan
Jaypee Brothers,Medical Publishers Pvt. Limited, 2018

Inherited mutations in either gene greatly increase the risk for a variety of tumors, especially breast cancer in both women and men, and ovarian or prostate cancers.

“Understanding Pathophysiology E-Book” by Sue E. Huether, Kathryn L. McCance
from Understanding Pathophysiology E-Book
by Sue E. Huether, Kathryn L. McCance
Elsevier Health Sciences, 2019

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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10 comments

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  • Dear Shomus I took.your number from internet and messaged through whatsup. I thought some other people use your number and demands for money on little assistance. They demand money in advance

  • Perfectly explained… My sister in law is having breast cancer at the age of 35 but there is no family history…. I told my wife to get brca test…. Where should she get it done… In Mumbai.

  • Dear Mr. Sumen Bhattacharyya,
    it is a very good educative video. Please, do a tutorial in the context of PARP and BRCA activity in DNA repair; PARP inhibitor selectivity cancer and normal cells.
    Thank you very much.

  • I rarely leave comments on videos, but this one helped me out tremendously! I gave a presentation on the causes of breast cancer today and the BCRA mutations were still a bit fuzzy in my mind for whatever reason. I watched your video an hour before just to brush up and it helped more than I could have imagined it would. The presentation was flawless! thank you! I will be watching more of your videos!

  • Thank you very much. I have BRCA1 Mutation, my Mom had BRCA1 Mutation and my Grandpa had probably BRCA1 Mutation.
    What should I do now to prevent me from getting cancer? I am only 28 years old now.

  • My diagnose was matasisi of bones caused by prostrate cancer PSA 282, operated for removal of tests and now PSA is 1.7
    docs say I am fine, but now I have limp node enlargement ultrasound report (prominent bilateral ingunuial lymphnodes with preserved fatty hilium.
    i have found you much wiser than my docs please advise

  • Wow what a video, this was explained so well. I found the mutations in BRCA the hardest topic to get my head around and this video really helped me, thanks!

  • My family has just been diagnosed as having the BRCA2 mutation, I am a nurse so had some understanding but this will be very helpful in explaining it to them. Thank you!

  • Thank you so much for this wonderful presentation. I have the BRCA1 mutation myself (as do other members of my family). This is a fantastic presentation of some of the detail about how this gene works at cellular level and what can happen when it is faulty. I had ovarian cancer (actually, primary peritoneal cancer, which is very similar) in 2014, was successfully treated and am living to tell the tale! Tracy, Bathurst, Australia

  • On a episode of house a little boy had ovarian cancer how is this possible when I thought only woman like me and sister and aunt have overies