For more information about the OvaNext test, visit https://www.ambrygen.com/clini....cian/genetic-testing

Female cancers often appear quietly, masking themselves with non-specific symptoms, making them hard to detect without proper testing. The right test at the right time can provide critical information so that you can offer the personalized treatment and management options they need.

Test Description
OvaNext analyzes 25 genes (listed above). 24 genes (excluding EPCAM) are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). The inversion of coding exons 1-7 of the MSH2 gene and the BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) are detected by NGS and confirmed by PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 25 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene.

Brittany L. Bychkovsky, MD, MSc, discusses hereditary breast cancer genetics at the annual Breast Cancer Personalized Risk Assessment, Education and Prevention (B-PREP) Forum.

To learn more about the Breast Oncology Program at Dana-Farber/Brigham and Women's Cancer Center, visit: https://www.dana-farber.org/br....east-oncology-progra

To learn more about Cancer Genetics and Prevention at Dana-Farber/Brigham and Women's Cancer Center, visit: https://www.dana-farber.org/ca....ncer-genetics-and-pr

For more information about the B-PREP Program, visit: https://www.brighamandwomens.o....rg/surgery/breast-su

Professor Judy Garber from the Dana Farber Cancer Institute in Boston, USA shares her insights on the very latest developments on the genetic risk factors for breast cancer.

00:00 Hereditary Breast Cancer Risk: Latest Developments & Learnings - NBCF
03:11 Breast Cancer Risk Factors
07:17 Categories of Mammographic Density
13:47 Who Is At High Risk Of Breast Cancer?
14:58 Family History and Breast Cancer
24:04 Types of Gene Mutations
33:23 Family History and Ovarian Cancer
37:42 Estimated Cumulative Risks of Breast and Ovarian Cancers in Mutation Carriers
49:07 Common Gene Abnormalities After DNA damage
50:30 Current Research and Developments

Learn more about our research here: https://nbcf.org.au/research/

Every day 55 Australians are diagnosed with breast cancer and sadly, 9 Australians will lose their life.

The National Breast Cancer Foundation is the leading community-funded organisation in Australia raising money for research into the prevention and cure of breast cancer.

Our aspirational goal is to achieve zero deaths from breast cancer.

Make a donation and help fund game-changing research here: https://nbcf.org.au/donate/

Subscribe to our YouTube channel here: https://www.youtube.com/c/Nbcf....OrgAus?sub_confirmat

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This patient education video is for individuals who have a family member with a BRCA1 or BRCA2 gene mutation. It educates viewers about how family history can impact a person's chances of developing cancer.

Learn more about hereditary cancer syndromes: https://www.mdanderson.org/pre....vention-screening/fa

Request an appointment at MD Anderson by calling 1-877-632-6789 or online at: https://my.mdanderson.org/Requ....estAppointment?cmpid

Sue Friedman, Executive Director, FORCE (Facing Our Risk of Cancer Empowered), discusses the ABOUT Network, which is the first-ever patient-powered research registry created and governed by and for people affected by hereditary breast and ovarian cancers. In this clip, Friedman also stresses the importance of informed decision-making.

View more at http://curetoday.com/

CURE: Combining science and humanity to make cancer understandable.