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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

My 2🪙 in closing: Rigorous, large-scale WGS + analyses beyond coding SNVs/indels will be critical for 1. Fully understanding cancer susceptibility (esp. early-onset), and 2. Guiding evidence-based screening strategies for #earlydetection 15/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

And that's a wrap! These studies are the outriders of a wave of germline projects coming down the pipe Exciting time to be in the field. HUGE thanks to collaborators, funders, and patients who made this possible. Want to learn more? Check out our lab: labs.dana-farber.org/collins-geno... 14/15

labs.dana-farber.org

Home | Collins Genomics Lab at Dana-Farber Cancer Institute

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

Neither of these SVs signals were seen in the older never-smoker cohort Yet both are similar to what we reported last year in pediatric cancers: www.science.org/doi/10.1126/... Could this imply a uniquely impt. role for rare germline SVs in early-onset, rearranged cancers?? 🤔 13/15

science.org

Rare germline structural variants increase risk for pediatric solid tumors

Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using ge...

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

2. Another appearance from rare germline SVs! Two main signals: i. SVs disrupting lung-expressed, mutationally constrained genes ii. Very large germline deletions in pts w/fusion+ tumors 12/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

Lots of findings in this one, too. I'll highlight two key discoveries: 1. Paired germline + somatic analyses reveals rare variants predispose to *specific molecular subtypes* of young LUAD Germline IREB2 -> fusion-driven lung Germline SMAD4 -> non-fusion-driven 🤔 11/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

Jackie + Pasi recruited & WGS'ed 251 early-onset lung cancer patients Our team led computational analysis of these patients jointly with: + 196 lung patients with no smoking history (comparison pop.) + 1,883 cancer-free controls 10/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

3. Gene discovery in cancer is not finished, even for highly studied cancers! Noah found a rare 5' UTR variant in BRAT1 (BRCA/ATM-related gene) that confers 10x odds of breast cancer CRISPR modeling by Wenbin Mei + JT Neal @broadinstitute.org confirmed UTR splice effect 8/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

In fact, large % of familial cancers had PRS effects as strong as rare pathogenic variants Ex: 20% of familial breast cases had PRS as strong as path. CHEK2 variant 😮 🩺 insight: we clearly need to be thinking beyond rare variants even for patients with strong FHx 7/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

2. Despite enriching for presumably Mendelian inheritance, common polygenic risk #PRS was elevated in most cancer types and tracked with specific family histories 🤯 Turns out even familial cancers can (should?) be viewed as complex traits! 6/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

Lots of cool findings! Here are three of my favorites: 1. Rare SVs enriched in known cancer genes, like 6kb single-exon duplication in BRCA1 in familial breast cancer or 20kb deletion of MSH2 in familial colon cancer👀 5/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

We asked: why do these families have such strong burden of cancer? Using whole-genome sequencing 🧬, Noah systematically tested several possibilities Takeaway: we were able to explain ~11% of all cases by genetic factors *beyond* recognized pathogenic germline variants 4/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

But first, a sentimental note: These two are unusually special to me. They spanned the end of my postdoc w/@vanallenlab.bsky.social into the first year of my new lab @danafarber.bsky.social with big 💪🧠 from some of our first lab members, Noah Fields + Carter Nakagawa 2/15

labs.dana-farber.org

People | Collins Genomics Lab at Dana-Farber Cancer Institute

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Collins Genomics Lab @collinsgenomics.bsky.social · 10/07/2026

📣Delighted to share two new studies from our team using germline genome sequencing 🧬 to understand #cancer #predisposition! Interested? 🧵👇 for details 1/15

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Collins Genomics Lab @collinsgenomics.bsky.social · 06/03/2026

If you have a strong computational background and experience in functional genomics or cancer biology, we’d love to hear from you. Apply here: careers.dana-farber.org/job/637/post...

careers.dana-farber.org

Fellowships Job: Postdoctoral Research Fellow - Computational Biologist at Dana-Farber Cancer Institute in 450 Brookline Ave, BOSTON, MA

Postdoctoral Research Fellow - Computational Biologist job

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Collins Genomics Lab @collinsgenomics.bsky.social · 06/03/2026

We're looking for someone to lead the integration of tens of thousands of germline genomes with tumor/normal transcriptomes and clinical data tackle a big question in cancer genetics: how does each patient's unique inherited genome influence tumor initiation and early evolution?

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Collins Genomics Lab @collinsgenomics.bsky.social · 06/03/2026

📣 We’re hiring a computational genomics postdoc! 📣 Our lab at @danafarber.bsky.social is looking for a postdoctoral fellow — details in 🧵👇

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Collins Genomics Lab @collinsgenomics.bsky.social · 16/09/2025

One in pediatric cancers (joint with Riaz Gillani's lab @DFCI / @bostonchildrens.bsky.social): careers.dana-farber.org/job/12186/po... Come work with us at the intersection of cutting-edge human genomics, cancer predisposition, and tumorigenesis!

careers.dana-farber.org

Research Laboratory Job: Postdoctoral Computational Biologist in Cancer Genetics at Dana-Farber Cancer Institute in 450 Brookline Ave, Boston, MA

Postdoctoral Computational Biologist in Cancer Genetics job

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